This repository includes publications from 2019 on rare conditions which include authors from Manchester. Last update July 2025.
| Category | Letters/corrections/proceedings, queries | Clinical trials | Disease gene discoveries | Phenotype expansion | Mechanistic studies | Translational studies | Genetic counselling / PPIE | PMID | Title | Authors | Citation | First Author | Journal/Book | Publication Year | Create Date | PMCID | NIHMS ID | DOI |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Translational studies | Y | 29679380 | A nonmyeloablative chimeric mouse model accurately defines microglia and macrophage contribution in glioma | Yu K, Youshani AS, Wilkinson FL, O'Leary C, Cook P, Laaniste L, Liao A, Mosses D, Waugh C, Shorrock H, Pathmanaban O, Macdonald A, Kamaly-Asl I, Roncaroli F, Bigger BW. | Neuropathol Appl Neurobiol. 2019 Feb;45(2):119-140. doi: 10.1111/nan.12489. Epub 2018 May 17. | Yu K | Neuropathol Appl Neurobiol | 2019 | 22/04/2018 | PMC7379954 | 10.1111/nan.12489 | |||||||
| Translational studies | Y | 29855605 | The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency | De Leonibus C, Murray P, Garner T, Hanson D, Clayton P, Stevens A. | Pharmacogenomics J. 2019 Apr;19(2):200-210. doi: 10.1038/s41397-018-0026-4. Epub 2018 Jun 1. | De Leonibus C | Pharmacogenomics J | 2019 | 02/06/2018 | 10.1038/s41397-018-0026-4 | ||||||||
| Letters/corrections | Y | 29858171 | Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling | Frémond ML, Melki I, Kracker S, Bondet V, Duffy D, Rice GI, Crow YJ, Bader-Meunier B. | Ann Rheum Dis. 2019 Aug;78(8):e86. doi: 10.1136/annrheumdis-2018-213745. Epub 2018 Jun 1. | Frémond ML | Ann Rheum Dis | 2019 | 03/06/2018 | 10.1136/annrheumdis-2018-213745 | ||||||||
| Translational studies | Y | 30019452 | Translational regulation in response to stress in Saccharomyces cerevisiae | Crawford RA, Pavitt GD. | Yeast. 2019 Jan;36(1):5-21. doi: 10.1002/yea.3349. Epub 2018 Sep 3. | Crawford RA | Yeast | 2019 | 19/07/2018 | PMC6492140 | 10.1002/yea.3349 | |||||||
| Disease gene discoveries | Y | 30097991 | Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties | Anderson R, Rust S, Ashworth J, Clayton-Smith J, Taylor RL, Clayton PT, Morris AAM. | JIMD Rep. 2019;44:79-84. doi: 10.1007/8904_2018_127. Epub 2018 Aug 11. | Anderson R | JIMD Rep | 2019 | 12/08/2018 | PMC6323057 | 10.1007/8904_2018_127 | |||||||
| Phenotype expansion | Y | 30112657 | Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers | Ng N, Kaur A, Shenoy M. | Pediatr Nephrol. 2019 Mar;34(3):425-427. doi: 10.1007/s00467-018-4037-9. Epub 2018 Aug 15. | Ng N | Pediatr Nephrol | 2019 | 17/08/2018 | 10.1007/s00467-018-4037-9 | ||||||||
| Clinical trials | Y | 30136572 | Delivering Hematopoietic Stem Cell Gene Therapy Treatments for Neurological Lysosomal Diseases | Holley RJ, Wood SR, Bigger BW. | ACS Chem Neurosci. 2019 Jan 16;10(1):18-20. doi: 10.1021/acschemneuro.8b00408. Epub 2018 Aug 23. | Holley RJ | ACS Chem Neurosci | 2019 | 24/08/2018 | 10.1021/acschemneuro.8b00408 | ||||||||
| Phenotype expansion | Y | 30170123 | Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease | Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. | J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. | Dorjbal B | J Allergy Clin Immunol | 2019 | 01/09/2018 | PMC6395549 | NIHMS1505504 | 10.1016/j.jaci.2018.08.013 | ||||||
| Phenotype expansion | Y | 30217753 | Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome | Pei Y, Beaman GM, Mansfield D, Clayton-Smith J, Stewart M, Newman WG. | Eur J Med Genet. 2019 Jun;62(6):103536. doi: 10.1016/j.ejmg.2018.09.003. Epub 2018 Sep 11. | Pei Y | Eur J Med Genet | 2019 | 16/09/2018 | 10.1016/j.ejmg.2018.09.003 | ||||||||
| Phenotype expansion | Y | 30220557 | Atypical late presentation of BPAN in a male: A case report | Boca M, Herwadkar A, Garrard K, Beauchamp N, Breen C, Silverdale M, Kobylecki C. | Parkinsonism Relat Disord. 2019 Mar;60:184-185. doi: 10.1016/j.parkreldis.2018.09.010. Epub 2018 Sep 8. | Boca M | Parkinsonism Relat Disord | 2019 | 18/09/2018 | 10.1016/j.parkreldis.2018.09.010 | ||||||||
| Disease gene discoveries | Y | Y | 30239721 | GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay | Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM. | Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330. | Rumping L | Hum Mol Genet | 2019 | 22/09/2018 | 10.1093/hmg/ddy330 | |||||||
| Disease gene discoveries | Y | 30245510 | A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay | Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. | Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. | Mucha BE | Genet Med | 2019 | 25/09/2018 | 10.1038/s41436-018-0290-3 | ||||||||
| Clinical trials | Y | 30282666 | Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency | Briand C, Frémond ML, Bessis D, Carbasse A, Rice GI, Bondet V, Duffy D, Chatenoud L, Blanche S, Crow YJ, Neven B. | Ann Rheum Dis. 2019 Mar;78(3):431-433. doi: 10.1136/annrheumdis-2018-214037. Epub 2018 Oct 3. | Briand C | Ann Rheum Dis | 2019 | 05/10/2018 | 10.1136/annrheumdis-2018-214037 | ||||||||
| Genetic counselling / PPIE | Y | 30291341 | The Global State of the Genetic Counseling Profession | Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, Davoine E, Edwards J, Elackatt NJ, Gardiner K, Guan Y, Huang LH, Malmgren CI, Kejriwal S, Kim HJ, Lambert D, Lantigua-Cruz PA, Lee JMH, Lodahl M, Lunde Å, Macaulay S, Macciocca I, Margarit S, Middleton A, Moldovan R, Ngeow J, Obregon-Tito AJ, Ormond KE, Paneque M, Powell K, Sanghavi K, Scotcher D, Scott J, Juhé CS, Shkedi-Rafid S, Wessels TM, Yoon SY, Wicklund C. | Eur J Hum Genet. 2019 Feb;27(2):183-197. doi: 10.1038/s41431-018-0252-x. Epub 2018 Oct 5. | Abacan M | Eur J Hum Genet | 2019 | 07/10/2018 | PMC6336871 | 10.1038/s41431-018-0252-x | |||||||
| Phenotype expansion | Y | 30291340 | Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability | Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. | Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. | Verheije R | Eur J Hum Genet | 2019 | 07/10/2018 | PMC6336847 | 10.1038/s41431-018-0281-5 | |||||||
| Phenotype expansion | Y | 30325044 | Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene | Evans DG, Wallace AJ, Hartley C, Freeman SR, Lloyd SK, Thomas O, Axon P, Hammerbeck-Ward CL, Pathmanaban O, Rutherford SA, Kellett M, Laitt R, King AT, Bischetsrieder J, Blakeley J, Smith MJ. | Laryngoscope. 2019 Apr;129(4):967-973. doi: 10.1002/lary.27554. Epub 2018 Oct 16. | Evans DG | Laryngoscope | 2019 | 17/10/2018 | PMC6563429 | 10.1002/lary.27554 | |||||||
| Mechanistic studies | Y | 30335168 | Classifying cells with Scasat, a single-cell ATAC-seq analysis tool | Baker SM, Rogerson C, Hayes A, Sharrocks AD, Rattray M. | Nucleic Acids Res. 2019 Jan 25;47(2):e10. doi: 10.1093/nar/gky950. | Baker SM | Nucleic Acids Res | 2019 | 19/10/2018 | PMC6344856 | 10.1093/nar/gky950 | |||||||
| Phenotype expansion | Y | 30349098 | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome | van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, et al. | Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. | van der Sluijs PJ | Genet Med | 2019 | 24/10/2018 | PMC6752273 | 10.1038/s41436-018-0330-z | |||||||
| Phenotype expansion | Y | 30390314 | Mast cell disorders: From infancy to maturity | Wilcock A, Bahri R, Bulfone-Paus S, Arkwright PD. | Allergy. 2019 Jan;74(1):53-63. doi: 10.1111/all.13657. Epub 2018 Nov 28. | Wilcock A | Allergy | 2019 | 04/11/2018 | 10.1111/all.13657 | ||||||||
| Translational studies | Y | 30459467 | A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population | Faundes V, Malone G, Newman WG, Banka S. | J Hum Genet. 2019 Feb;64(2):161-170. doi: 10.1038/s10038-018-0536-6. Epub 2018 Nov 20. | Faundes V | J Hum Genet | 2019 | 22/11/2018 | 10.1038/s10038-018-0536-6 | ||||||||
| Translational studies | Y | 30496830 | Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale | Grant PE, Pampaka M, Payne K, Clarke A, McAllister M. | Eur J Med Genet. 2019 May;62(5):324-334. doi: 10.1016/j.ejmg.2018.11.015. Epub 2018 Nov 26. | Grant PE | Eur J Med Genet | 2019 | 30/11/2018 | 10.1016/j.ejmg.2018.11.015 | ||||||||
| Translational studies | Y | 30514738 | Kabuki syndrome: international consensus diagnostic criteria | Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. | J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. | Adam MP | J Med Genet | 2019 | 06/12/2018 | 10.1136/jmedgenet-2018-105625 | ||||||||
| Translational studies | Y | 30557702 | Measuring the economic value of genetic counselling | Payne K, Eden M. | Eur J Med Genet. 2019 May;62(5):385-389. doi: 10.1016/j.ejmg.2018.12.007. Epub 2018 Dec 14. | Payne K | Eur J Med Genet | 2019 | 18/12/2018 | 10.1016/j.ejmg.2018.12.007 | ||||||||
| Phenotype expansion | Y | 30574673 | DDX58 and Classic Singleton-Merten Syndrome | Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA. | J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20. | Ferreira CR | J Clin Immunol | 2019 | 22/12/2018 | PMC6394545 | 10.1007/s10875-018-0572-1 | |||||||
| Mechanistic studies | Y | 30587507 | Pathogenicity and selective constraint on variation near splice sites | Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study. | Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26. | Lord J | Genome Res | 2019 | 28/12/2018 | PMC6360807 | 10.1101/gr.238444.118 | |||||||
| Phenotype expansion | Y | 30624022 | A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy | Fraser H, Goldman A, Wright R; Deciphering Developmental Disorders Study; Banka S. | Am J Med Genet A. 2019 Mar;179(3):507-511. doi: 10.1002/ajmg.a.40661. Epub 2019 Jan 9. | Fraser H | Am J Med Genet A | 2019 | 10/01/2019 | 10.1002/ajmg.a.40661 | ||||||||
| Translational studies | Y | 30622329 | Towards establishing consistency in triage in a tertiary specialty | McVeigh TP, Donnelly D, Al Shehhi M, Jones EA, Murray A, Wedderburn S, Porteous M, Lynch SA. | Eur J Hum Genet. 2019 Apr;27(4):547-555. doi: 10.1038/s41431-018-0322-0. Epub 2019 Jan 8. | McVeigh TP | Eur J Hum Genet | 2019 | 10/01/2019 | PMC6460635 | 10.1038/s41431-018-0322-0 | |||||||
| Phenotype expansion | Y | 30628148 | 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex | Beaman GM, Woolf AS, Cervellione RM, Keene D, Mushtaq I, Urquhart JE, Stuart HM, Newman WG. | Am J Med Genet A. 2019 Mar;179(3):404-409. doi: 10.1002/ajmg.a.61032. Epub 2019 Jan 9. | Beaman GM | Am J Med Genet A | 2019 | 11/01/2019 | 10.1002/ajmg.a.61032 | ||||||||
| Translational studies | Y | 30631111 | Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? | Evans DG, Woodward ER, Lalloo F, Møller P, Sampson J, Burn J, Moeslein G, Capella G. | Genet Med. 2019 Aug;21(8):1878-1879. doi: 10.1038/s41436-018-0401-1. Epub 2018 Dec 14. | Evans DG | Genet Med | 2019 | 12/01/2019 | 10.1038/s41436-018-0401-1 | ||||||||
| Mechanistic studies | Y | 30631079 | GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation | Witkos TM, Chan WL, Joensuu M, Rhiel M, Pallister E, Thomas-Oates J, Mould AP, Mironov AA, Biot C, Guerardel Y, Morelle W, Ungar D, Wieland FT, Jokitalo E, Tassabehji M, Kornak U, Lowe M. | Nat Commun. 2019 Jan 10;10(1):127. doi: 10.1038/s41467-018-08044-6. | Witkos TM | Nat Commun | 2019 | 12/01/2019 | PMC6328613 | 10.1038/s41467-018-08044-6 | |||||||
| Disease gene discoveries | Y | 30643220 | Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay | Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. | Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x. | Mucha BE | Genet Med | 2019 | 16/01/2019 | 10.1038/s41436-018-0413-x | ||||||||
| Translational studies | Y | 30658664 | Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure | Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. | Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. | Kuiper GA | Orphanet J Rare Dis | 2019 | 20/01/2019 | PMC6339313 | 10.1186/s13023-019-0997-5 | |||||||
| Phenotype expansion | Y | Y | 30664714 | Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures | Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study; Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A. | Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21. | Zweier M | Eur J Hum Genet | 2019 | 22/01/2019 | PMC6461771 | 10.1038/s41431-018-0331-z | ||||||
| Phenotype expansion | Y | 30666632 | Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype | Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J, Clayton-Smith J, Willoughby J, Elmslie FF, Sansbury FH, Cooper N; Deciphering Developmental Disorders (DDD) Study; Balasubramanian M. | Clin Genet. 2019 Apr;95(4):496-506. doi: 10.1111/cge.13507. | Radley JA | Clin Genet | 2019 | 23/01/2019 | 10.1111/cge.13507 | ||||||||
| Letters/corrections | Y | 30677142 | Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement | Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. | Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. | Zollino M | Clin Genet | 2019 | 25/01/2019 | 10.1111/cge.13506 | ||||||||
| Genetic counselling / PPIE | Y | 30680631 | The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies | McVeigh E, Jones H, Black G, Hall G. | J Community Genet. 2019 Jul;10(3):425-434. doi: 10.1007/s12687-019-00406-x. Epub 2019 Jan 24. | McVeigh E | J Community Genet | 2019 | 26/01/2019 | PMC6591333 | 10.1007/s12687-019-00406-x | |||||||
| Phenotype expansion | Y | 30683880 | Shared heritability and functional enrichment across six solid cancers | Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, et al. | Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4. | Jiang X | Nat Commun | 2019 | 27/01/2019 | PMC6347624 | 10.1038/s41467-018-08054-4 | |||||||
| Genetic counselling / PPIE | Y | 30683926 | Delivering effective genetic services for patients and families affected by cleft lip and/or palate | Stock NM, MacLeod R, Clayton-Smith J. | Eur J Hum Genet. 2019 Jul;27(7):1018-1025. doi: 10.1038/s41431-018-0333-x. Epub 2019 Jan 25. | Stock NM | Eur J Hum Genet | 2019 | 27/01/2019 | PMC6777632 | 10.1038/s41431-018-0333-x | |||||||
| Letters/corrections | Y | 30696996 | Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome | van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, et al. | Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. | van der Sluijs PJ | Genet Med | 2019 | 31/01/2019 | PMC6752317 | 10.1038/s41436-018-0368-y | |||||||
| Mechanistic studies | Y | 30718364 | Ena orchestrates remodelling within the actin cytoskeleton to drive robust Drosophila macrophage chemotaxis | Davidson AJ, Millard TH, Evans IR, Wood W. | J Cell Sci. 2019 Feb 18;132(5):jcs224618. doi: 10.1242/jcs.224618. | Davidson AJ | J Cell Sci | 2019 | 06/02/2019 | PMC6432709 | 10.1242/jcs.224618 | |||||||
| Mechanistic studies | Y | 30722781 | Non-myeloablative busulfan chimeric mouse models are less pro-inflammatory than head-shielded irradiation for studying immune cell interactions in brain tumours | Youshani AS, Rowlston S, O'Leary C, Forte G, Parker H, Liao A, Telfer B, Williams K, Kamaly-Asl ID, Bigger BW. | J Neuroinflammation. 2019 Feb 5;16(1):25. doi: 10.1186/s12974-019-1410-y. | Youshani AS | J Neuroinflammation | 2019 | 07/02/2019 | PMC6362590 | 10.1186/s12974-019-1410-y | |||||||
| Mechanistic studies | Y | 30728324 | Hypomorphic mutations of TRIP11 cause odontochondrodysplasia | Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E. | JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701. | Wehrle A | JCI Insight | 2019 | 08/02/2019 | PMC6413787 | 10.1172/jci.insight.124701 | |||||||
| Disease gene discoveries | Y | 30734472 | De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability | Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL; DDD Study; Clayton-Smith J. | Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7. | Nicola P | Am J Med Genet A | 2019 | 09/02/2019 | 10.1002/ajmg.a.61061 | ||||||||
| Disease gene discoveries | Y | 30762603 | A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature | Riccardi F, Urquhart J, McCullagh G, Lawrence P, Douzgou S. | Clin Dysmorphol. 2019 Apr;28(2):66-70. doi: 10.1097/MCD.0000000000000259. | Riccardi F | Clin Dysmorphol | 2019 | 15/02/2019 | 10.1097/MCD.0000000000000259 | ||||||||
| Disease gene discoveries | Y | 30842225 | NAA10 polyadenylation signal variants cause syndromic microphthalmia | Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. | J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6. | Johnston JJ | J Med Genet | 2019 | 08/03/2019 | PMC7032957 | EMS85794 | 10.1136/jmedgenet-2018-105836 | ||||||
| Phenotype expansion | Y | 30858900 | Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report | Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M, Møller P. | Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8. eCollection 2019. | Seppälä TT | Hered Cancer Clin Pract | 2019 | 13/03/2019 | PMC6394091 | 10.1186/s13053-019-0106-8 | |||||||
| Phenotype expansion | Y | 30879340 | FUS-ALS presenting with myoclonic jerks in a 17-year-old man | Dodd KC, Power R, Ealing J, Hamdalla H. | Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):278-280. doi: 10.1080/21678421.2019.1582665. Epub 2019 Mar 18. | Dodd KC | Amyotroph Lateral Scler Frontotemporal Degener | 2019 | 19/03/2019 | 10.1080/21678421.2019.1582665 | ||||||||
| Translational studies | Y | 30885509 | Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder | Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. | Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8. | Roberts NA | Kidney Int | 2019 | 20/03/2019 | PMC6481288 | 10.1016/j.kint.2018.11.040 | |||||||
| Phenotype expansion | Y | 30892814 | Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP | Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. | Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20. | Banka S | Am J Med Genet A | 2019 | 21/03/2019 | 10.1002/ajmg.a.61131 | ||||||||
| Translational studies | Y | 30908877 | First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics | Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. | Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. | Rauen KA | Am J Med Genet A | 2019 | 26/03/2019 | PMC8279388 | NIHMS1017447 | 10.1002/ajmg.a.61125 | ||||||
| Disease gene discoveries | Y | 30905644 | Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen | Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium. | Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21. | Taylor RL | Ophthalmology | 2019 | 26/03/2019 | PMC6856713 | 10.1016/j.ophtha.2019.03.013 | |||||||
| Translational studies | Y | 30911575 | Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis | Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. | Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. | Hayhurst H | Ann Clin Transl Neurol | 2019 | 27/03/2019 | PMC6414492 | 10.1002/acn3.725 | |||||||
| Mechanistic studies | Y | 30936263 | Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS | Gratia M, Rodero MP, Conrad C, Bou Samra E, Maurin M, Rice GI, Duffy D, Revy P, Petit F, Dale RC, Crow YJ, Amor-Gueret M, Manel N. | J Exp Med. 2019 May 6;216(5):1199-1213. doi: 10.1084/jem.20181329. Epub 2019 Apr 1. | Gratia M | J Exp Med | 2019 | 03/04/2019 | PMC6504208 | 10.1084/jem.20181329 | |||||||
| Letters/corrections | Y | 30951883 | Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies | Al Farsi T, Hughes SM, Wynn RF, Cheesman E, Rieux-Laucat F, Latour S, Picard C, Hambleton S, Arkwright PD. | J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2456-2458.e4. doi: 10.1016/j.jaip.2019.03.034. Epub 2019 Apr 3. | Al Farsi T | J Allergy Clin Immunol Pract | 2019 | 06/04/2019 | 10.1016/j.jaip.2019.03.034 | ||||||||
| Clinical trials | Y | Y | 30976609 | Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I | Ghosh A, Liao A, O'Leary C, Mercer J, Tylee K, Goenka A, Holley R, Jones SA, Bigger BW. | Mol Ther Methods Clin Dev. 2019 Mar 2;13:321-333. doi: 10.1016/j.omtm.2019.02.007. eCollection 2019 Jun 14. | Ghosh A | Mol Ther Methods Clin Dev | 2019 | 13/04/2019 | PMC6441787 | 10.1016/j.omtm.2019.02.007 | ||||||
| Disease gene discoveries | Y | 30982612 | Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia | Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. | Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. | Gorman KM | Am J Hum Genet | 2019 | 16/04/2019 | PMC6507039 | 10.1016/j.ajhg.2019.03.005 | |||||||
| Phenotype expansion | Y | 31001818 | The clinical presentation caused by truncating CHD8 variants | Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study; Banka S. | Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14. | Douzgou S | Clin Genet | 2019 | 20/04/2019 | 10.1111/cge.13554 | ||||||||
| Letters/corrections | Y | Y | 31016814 | Concern regarding classification of germline TP53 variants as likely pathogenic | Evans DG, Turnbull C, Woodward ER. | Hum Mutat. 2019 Jun;40(6):828-831. doi: 10.1002/humu.23750. Epub 2019 Apr 24. | Evans DG | Hum Mutat | 2019 | 25/04/2019 | 10.1002/humu.23750 | |||||||
| Translational studies | Y | 31021819 | Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients | Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS. | JCI Insight. 2019 Apr 25;5(11):e127527. doi: 10.1172/jci.insight.127527. | Pillay BA | JCI Insight | 2019 | 26/04/2019 | PMC6629099 | 10.1172/jci.insight.127527 | |||||||
| Mechanistic studies | Y | 31020862 | An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA | Gray AL, O'Leary C, Liao A, Agúndez L, Youshani AS, Gleitz HF, Parker H, Taylor JT, Danos O, Hocquemiller M, Palomar N, Linden RM, Henckaerts E, Holley RJ, Bigger BW. | Hum Gene Ther. 2019 Sep;30(9):1052-1066. doi: 10.1089/hum.2018.189. Epub 2019 Jun 4. | Gray AL | Hum Gene Ther | 2019 | 26/04/2019 | 10.1089/hum.2018.189 | ||||||||
| Phenotype expansion | Y | 31032239 | Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies | Woolf AS, Lopes FM, Ranjzad P, Roberts NA. | Front Pediatr. 2019 Apr 11;7:136. doi: 10.3389/fped.2019.00136. eCollection 2019. | Woolf AS | Front Pediatr | 2019 | 30/04/2019 | PMC6470263 | 10.3389/fped.2019.00136 | |||||||
| Disease gene discoveries | Y | 31045593 | Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity | Hyder Z, Fairclough A, Douzgou S. | Clin Dysmorphol. 2019 Jul;28(3):131-136. doi: 10.1097/MCD.0000000000000281. | Hyder Z | Clin Dysmorphol | 2019 | 03/05/2019 | 10.1097/MCD.0000000000000281 | ||||||||
| Disease gene discoveries | Y | 31051115 | Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction | Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. | Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. | Kolvenbach CM | Am J Hum Genet | 2019 | 04/05/2019 | PMC6506863 | 10.1016/j.ajhg.2019.03.023 | |||||||
| Disease gene discoveries | Y | 31048900 | Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice | Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. | PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May. | Garnai SJ | PLoS Genet | 2019 | 04/05/2019 | PMC6527243 | 10.1371/journal.pgen.1008130 | |||||||
| Phenotype expansion | Y | 31048080 | Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms | Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J. | Eur J Med Genet. 2020 Feb;63(2):103658. doi: 10.1016/j.ejmg.2019.04.015. Epub 2019 Apr 30. | Redwood A | Eur J Med Genet | 2020 | 04/05/2019 | 10.1016/j.ejmg.2019.04.015 | ||||||||
| Mechanistic studies | Y | 31062389 | Confirmation that somatic mutations of beta-2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial | Barrow P, Richman SD, Wallace AJ, Handley K, Hutchins GGA, Kerr D, Magill L, Evans DG, Gray R, Quirke P, Hill J. | Histopathology. 2019 Aug;75(2):236-246. doi: 10.1111/his.13895. Epub 2019 Jul 5. | Barrow P | Histopathology | 2019 | 08/05/2019 | PMC6772160 | 10.1111/his.13895 | |||||||
| Disease gene discoveries | Y | 31073077 | Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ | Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S. | Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9. | Swan DJ | Haematologica | 2019 | 11/05/2019 | PMC6886442 | 10.3324/haematol.2018.208397 | |||||||
| Phenotype expansion | Y | 31081514 | The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations | Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. | Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. | Rodríguez Cruz PM | Brain | 2019 | 14/05/2019 | PMC6752227 | 10.1093/brain/awz107 | |||||||
| Disease gene discoveries | Y | 31079897 | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy | O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. | Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. | O'Donnell-Luria AH | Am J Hum Genet | 2019 | 14/05/2019 | PMC6556837 | 10.1016/j.ajhg.2019.03.021 | |||||||
| Mechanistic studies | Y | 31086188 | The structural basis of translational control by eIF2 phosphorylation | Adomavicius T, Guaita M, Zhou Y, Jennings MD, Latif Z, Roseman AM, Pavitt GD. | Nat Commun. 2019 May 13;10(1):2136. doi: 10.1038/s41467-019-10167-3. | Adomavicius T | Nat Commun | 2019 | 16/05/2019 | PMC6513899 | 10.1038/s41467-019-10167-3 | |||||||
| Mechanistic studies | Y | 31118240 | PTEN reduces endosomal PtdIns(4,5)P(2) in a phosphatase-independent manner via a PLC pathway | Mondin VE, Ben El Kadhi K, Cauvin C, Jackson-Crawford A, Bélanger E, Decelle B, Salomon R, Lowe M, Echard A, Carréno S. | J Cell Biol. 2019 Jul 1;218(7):2198-2214. doi: 10.1083/jcb.201805155. Epub 2019 May 22. | Mondin VE | J Cell Biol | 2019 | 24/05/2019 | PMC6605811 | 10.1083/jcb.201805155 | |||||||
| Translational studies | Y | 31160711 | Establishment of porcine and human expanded potential stem cells | Gao X, Nowak-Imialek M, Chen X, Chen D, Herrmann D, Ruan D, Chen ACH, Eckersley-Maslin MA, Ahmad S, Lee YL, Kobayashi T, Ryan D, Zhong J, Zhu J, Wu J, Lan G, Petkov S, Yang J, Antunes L, Campos LS, Fu B, Wang S, Yong Y, Wang X, Xue SG, Ge L, Liu Z, Huang Y, Nie T, Li P, Wu D, Pei D, Zhang Y, Lu L, Yang F, Kimber SJ, Reik W, Zou X, Shang Z, Lai L, Surani A, Tam PPL, Ahmed A, Yeung WSB, Teichmann SA, Niemann H, Liu P. | Nat Cell Biol. 2019 Jun;21(6):687-699. doi: 10.1038/s41556-019-0333-2. Epub 2019 Jun 3. | Gao X | Nat Cell Biol | 2019 | 05/06/2019 | PMC7035105 | EMS85726 | 10.1038/s41556-019-0333-2 | ||||||
| Mechanistic studies | Y | 31164752 | PEDIA: prioritization of exome data by image analysis | Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. | Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5. | Hsieh TC | Genet Med | 2019 | 06/06/2019 | PMC6892739 | 10.1038/s41436-019-0566-2 | |||||||
| Phenotype expansion | Y | 31177572 | Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency | Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. | J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. | Knerr I | J Inherit Metab Dis | 2019 | 10/06/2019 | 10.1002/jimd.12135 | ||||||||
| Disease gene discoveries | Y | 31189106 | ZIC3 Controls the Transition from Naive to Primed Pluripotency | Yang SH, Andrabi M, Biss R, Murtuza Baker S, Iqbal M, Sharrocks AD. | Cell Rep. 2019 Jun 11;27(11):3215-3227.e6. doi: 10.1016/j.celrep.2019.05.026. | Yang SH | Cell Rep | 2019 | 13/06/2019 | PMC6581693 | 10.1016/j.celrep.2019.05.026 | |||||||
| Phenotype expansion | Y | 31187502 | Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study | Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. | Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. | Ng YS | Ann Neurol | 2019 | 13/06/2019 | PMC6771528 | 10.1002/ana.25525 | |||||||
| Phenotype expansion | Y | 31213659 | Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers | Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, et al. | Br J Cancer. 2019 Jul;121(2):180-192. doi: 10.1038/s41416-019-0492-8. Epub 2019 Jun 19. | Qian F | Br J Cancer | 2019 | 20/06/2019 | PMC6738050 | 10.1038/s41416-019-0492-8 | |||||||
| Phenotype expansion | Y | 31222966 | Costello syndrome: Clinical phenotype, genotype, and management guidelines | Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. | Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. | Gripp KW | Am J Med Genet A | 2019 | 22/06/2019 | PMC8238015 | NIHMS1046071 | 10.1002/ajmg.a.61270 | ||||||
| Letters/corrections | Y | Y | 31222934 | Psychiatric genetic counseling: A mapping exercise | Moldovan R, McGhee KA, Coviello D, Hamang A, Inglis A, Ingvoldstad Malmgren C, Johansson-Soller M, Laurino M, Meiser B, Murphy L, Paneque M, Papsuev O, Pawlak J, Rovira Moreno E, Serra-Juhe C, Shkedi-Rafid S, Laing N, Voelckel MA, Watson M, Austin JC. | Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):523-532. doi: 10.1002/ajmg.b.32735. Epub 2019 Jun 20. | Moldovan R | Am J Med Genet B Neuropsychiatr Genet | 2019 | 22/06/2019 | 10.1002/ajmg.b.32735 | |||||||
| Translational studies | Y | 31227838 | The role of Trp53 in the mouse embryonic response to DNA damage | Wilson Y, Morris ID, Kimber SJ, Brison DR. | Mol Hum Reprod. 2019 Jul 1;25(7):397-407. doi: 10.1093/molehr/gaz029. | Wilson Y | Mol Hum Reprod | 2019 | 23/06/2019 | 10.1093/molehr/gaz029 | ||||||||
| Translational studies | Y | 31233021 | Using Zebrafish Larvae to Study the Pathological Consequences of Hemorrhagic Stroke | Crilly S, Njegic A, Parry-Jones AR, Allan SM, Kasher PR. | J Vis Exp. 2019 Jun 5;(148). doi: 10.3791/59716. | Crilly S | J Vis Exp | 2019 | 25/06/2019 | 10.3791/59716 | ||||||||
| Phenotype expansion | Y | 31240424 | Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant | Eelloo JA, Smith MJ, Bowers NL, Ealing J, Hulse P, Wylie JP, Shenjere P, Clarke NW, Soh C, Whitehouse RW, Jones M, Duff C, Freemont A, Gareth Evans D. | Fam Cancer. 2019 Oct;18(4):445-449. doi: 10.1007/s10689-019-00138-4. | Eelloo JA | Fam Cancer | 2019 | 27/06/2019 | 10.1007/s10689-019-00138-4 | ||||||||
| Mechanistic studies | Y | 31243447 | The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis | Ooi BNS, Loh H, Ho PJ, Milne RL, Giles G, Gao C, Kraft P, John EM, Swerdlow A, Brenner H, Wu AH, Haiman C, Evans DG, Zheng W, Fasching PA, Castelao JE, Kwong A, Shen X, Czene K, Hall P, Dunning A, Easton D, Hartman M, Li J. | Int J Epidemiol. 2019 Jun 1;48(3):781-794. doi: 10.1093/ije/dyz124. | Ooi BNS | Int J Epidemiol | 2019 | 28/06/2019 | PMC6659372 | 10.1093/ije/dyz124 | |||||||
| Phenotype expansion | Y | 31274573 | Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis | Kulkarni N, Lloyd IC, Ashworth J, Biswas S, Black GCM, Clayton-Smith J; NIHR BioResource Consortium. | Clin Dysmorphol. 2019 Oct;28(4):184-189. doi: 10.1097/MCD.0000000000000287. | Kulkarni N | Clin Dysmorphol | 2019 | 06/07/2019 | 10.1097/MCD.0000000000000287 | ||||||||
| Mechanistic studies | Y | 31273341 | Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing | Evans DG, Hartley CL, Smith PT, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi SK, Obholzer R; English Specialist NF research group; Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ. | Genet Med. 2020 Jan;22(1):53-59. doi: 10.1038/s41436-019-0598-7. Epub 2019 Jul 5. | Evans DG | Genet Med | 2020 | 06/07/2019 | 10.1038/s41436-019-0598-7 | ||||||||
| Letters/corrections | Y | 31282428 | Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners | Quarrell OW, Delatycki MB, Clarke AJ, Lahiri N, Craufurd D, Miedzybrodzka Z, MacLeod R, Renwick P, Tomlinson C. | J Huntingtons Dis. 2019;8(3):357-359. doi: 10.3233/JHD-190360. | Quarrell OW | J Huntingtons Dis | 2019 | 09/07/2019 | 10.3233/JHD-190360 | ||||||||
| Phenotype expansion | Y | 31301676 | Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1 | Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P. | J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. | Gopal-Kothandapani JS | J Pediatr Endocrinol Metab | 2019 | 14/07/2019 | 10.1515/jpem-2018-0538 | ||||||||
| Disease gene discoveries | Y | 31300657 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. | Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. | Salpietro V | Nat Commun | 2019 | 14/07/2019 | PMC6626132 | 10.1038/s41467-019-10910-w | |||||||
| Mechanistic studies | Y | 31304552 | Disease modeling of core pre-mRNA splicing factor haploinsufficiency | Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT. | Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169. | Wood KA | Hum Mol Genet | 2019 | 16/07/2019 | PMC6935387 | 10.1093/hmg/ddz169 | |||||||
| Phenotype expansion | Y | 31367981 | RNASEH2B Related Adult-Onset Interferonopathy | Briggs TA, Paul A, Rice G, Herrick AL. | J Clin Immunol. 2019 Aug;39(6):620-622. doi: 10.1007/s10875-019-00673-w. Epub 2019 Jul 31. | Briggs TA | J Clin Immunol | 2019 | 02/08/2019 | 10.1007/s10875-019-00673-w | ||||||||
| Translational studies | Y | 31373474 | Central venous catheter-associated thrombosis in children with congenital hyperinsulinism | Yau D, Salomon-Estebanez M, Chinoy A, Grainger J, Craigie RJ, Padidela R, Skae M, Dunne MJ, Murray PG, Banerjee I. | Endocrinol Diabetes Metab Case Rep. 2019 Jul 9;2019(1):19-0032. doi: 10.1530/EDM-19-0032. | Yau D | Endocrinol Diabetes Metab Case Rep | 2019 | 03/08/2019 | PMC8115433 | 10.1530/EDM-19-0032 | |||||||
| Clinical trials | Y | 31375536 | The importance of neoplastic cell content assessment and enrichment by macrodissection in cancer pharmacogenetic testing | Burghel GJ, Quinn AM, Smith P, Harris J, Banks C, Wallace A. | J Clin Pathol. 2019 Oct;72(10):721-722. doi: 10.1136/jclinpath-2019-206094. Epub 2019 Aug 2. | Burghel GJ | J Clin Pathol | 2019 | 04/08/2019 | 10.1136/jclinpath-2019-206094 | ||||||||
| Clinical trials | Y | 31390500 | Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome | Witztum JL, Gaudet D, Freedman SD, Alexander VJ, Digenio A, Williams KR, Yang Q, Hughes SG, Geary RS, Arca M, Stroes ESG, Bergeron J, Soran H, Civeira F, Hemphill L, Tsimikas S, Blom DJ, O'Dea L, Bruckert E. | N Engl J Med. 2019 Aug 8;381(6):531-542. doi: 10.1056/NEJMoa1715944. | Witztum JL | N Engl J Med | 2019 | 08/08/2019 | 10.1056/NEJMoa1715944 | ||||||||
| Phenotype expansion | Y | 31388190 | The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis | Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. | Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. | Weiss K | Genet Med | 2020 | 08/08/2019 | PMC8900827 | NIHMS1780806 | 10.1038/s41436-019-0612-0 | ||||||
| Translational studies | Y | 31400222 | Overactivity or blockade of transforming growth factor-β each generate a specific ureter malformation | Lopes FM, Roberts NA, Zeef LA, Gardiner NJ, Woolf AS. | J Pathol. 2019 Dec;249(4):472-484. doi: 10.1002/path.5335. Epub 2019 Oct 1. | Lopes FM | J Pathol | 2019 | 11/08/2019 | PMC6900140 | 10.1002/path.5335 | |||||||
| Disease gene discoveries | Y | 31400068 | HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals | Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. | Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. | Burkardt DD | Am J Med Genet A | 2019 | 11/08/2019 | 10.1002/ajmg.a.61321 | ||||||||
| Mechanistic studies | Y | 31399199 | Growing a new human kidney | Woolf AS. | Kidney Int. 2019 Oct;96(4):871-882. doi: 10.1016/j.kint.2019.04.040. Epub 2019 May 25. | Woolf AS | Kidney Int | 2019 | 11/08/2019 | PMC6856720 | 10.1016/j.kint.2019.04.040 | |||||||
| Translational studies | Y | 31417602 | Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative | Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. | Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. | Nellåker C | Front Genet | 2019 | 17/08/2019 | PMC6681681 | 10.3389/fgene.2019.00611 | |||||||
| Phenotype expansion | Y | 31425178 | Neurofibromatosis type 2 and related disorders | Halliday D, Parry A, Evans DG. | Curr Opin Oncol. 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. | Halliday D | Curr Opin Oncol | 2019 | 20/08/2019 | 10.1097/CCO.0000000000000579 | ||||||||
| Phenotype expansion | Y | 31435670 | Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease | Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. | Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202. | Oláhová M | Hum Mol Genet | 2019 | 23/08/2019 | PMC6935384 | 10.1093/hmg/ddz202 | |||||||
| Phenotype expansion | Y | 31441039 | A homozygous missense variant in CHRM3 associated with familial urinary bladder disease | Beaman GM, Galatà G, Teik KW, Urquhart JE, Aishah A, O'Sullivan J, Bhaskar SS, Wood KA, Thomas HB, O'Keefe RT, Woolf AS, Stuart HM, Newman WG. | Clin Genet. 2019 Dec;96(6):515-520. doi: 10.1111/cge.13631. Epub 2019 Sep 11. | Beaman GM | Clin Genet | 2019 | 24/08/2019 | PMC6899476 | 10.1111/cge.13631 | |||||||
| Phenotype expansion | Y | 31444676 | Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy? | Evans DG, Howell SJ, Howell A. | Fam Cancer. 2019 Oct;18(4):377-379. doi: 10.1007/s10689-019-00142-8. | Evans DG | Fam Cancer | 2019 | 25/08/2019 | PMC6784814 | 10.1007/s10689-019-00142-8 | |||||||
| Mechanistic studies | Y | 31446895 | Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation | Gurumurthy CB, O'Brien AR, Quadros RM, Adams J Jr, Alcaide P, Ayabe S, Ballard J, Batra SK, Beauchamp MC, Becker KA, Bernas G, Brough D, Carrillo-Salinas F, Chan W, Chen H, Dawson R, DeMambro V, D'Hont J, Dibb KM, Eudy JD, Gan L, Gao J, Gonzales A, Guntur AR, Guo H, Harms DW, Harrington A, Hentges KE, Humphreys N, Imai S, Ishii H, Iwama M, Jonasch E, Karolak M, Keavney B, Khin NC, Konno M, Kotani Y, Kunihiro Y, Lakshmanan I, Larochelle C, Lawrence CB, Li L, Lindner V, Liu XD, Lopez-Castejon G, Loudon A, Lowe J, Jerome-Majewska LA, Matsusaka T, Miura H, Miyasaka Y, Morpurgo B, Motyl K, Nabeshima YI, Nakade K, Nakashiba T, Nakashima K, Obata Y, Ogiwara S, Ouellet M, Oxburgh L, Piltz S, Pinz I, Ponnusamy MP, Ray D, Redder RJ, Rosen CJ, Ross N, Ruhe MT, Ryzhova L, Salvador AM, Alam SS, Sedlacek R, Sharma K, Smith C, Staes K, Starrs L, Sugiyama F, Takahashi S, Tanaka T, Trafford AW, Uno Y, Vanhoutte L, Vanrockeghem F, Willis BJ, Wright CS, Yamauchi Y, Yi X, Yoshimi K, Zhang X, Zhang Y, Ohtsuka M, Das S, Garry DJ, Hochepied T, Thomas P, Parker-Thornburg J, Adamson AD, Yoshiki A, et al. | Genome Biol. 2019 Aug 26;20(1):171. doi: 10.1186/s13059-019-1776-2. | Gurumurthy CB | Genome Biol | 2019 | 27/08/2019 | PMC6709553 | 10.1186/s13059-019-1776-2 | |||||||
| Translational studies | Y | 31455904 | A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations | Low S, Mohamed R, Davidson A, Papadopoulos M, Grassi P, Webster AR, Black GC, Foster PJ, Garway-Heath DF, Bloom PA. | Eye (Lond). 2020 Mar;34(3):577-583. doi: 10.1038/s41433-019-0553-5. Epub 2019 Aug 27. | Low S | Eye (Lond) | 2020 | 29/08/2019 | PMC7042240 | 10.1038/s41433-019-0553-5 | |||||||
| Phenotype expansion | Y | 31467304 | Two truncating variants in FANCC and breast cancer risk | Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand LL, Li J, Lindström S, Linet M, Lo WY, Long J, Lophatananon A, Lubiński J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, et al. | Sci Rep. 2019 Aug 29;9(1):12524. doi: 10.1038/s41598-019-48804-y. | Dörk T | Sci Rep | 2019 | 31/08/2019 | PMC6715680 | 10.1038/s41598-019-48804-y | |||||||
| Phenotype expansion | Y | 31479583 | The phenotype of Sotos syndrome in adulthood: A review of 44 individuals | Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. | Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. | Foster A | Am J Med Genet C Semin Med Genet | 2019 | 04/09/2019 | 10.1002/ajmg.c.31738 | ||||||||
| Phenotype expansion | Y | 31481360 | Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes | Jackson A, Ward H, Bromley RL, Deshpande C, Vasudevan P, Scurr I, Dean J, Shannon N, Berg J, Holder S, Baralle D, Clayton-Smith J; DDD Study. | Arch Dis Child. 2020 Apr;105(4):384-389. doi: 10.1136/archdischild-2018-316547. Epub 2019 Sep 3. | Jackson A | Arch Dis Child | 2020 | 05/09/2019 | 10.1136/archdischild-2018-316547 | ||||||||
| Translational studies | Y | 31504802 | EANO guideline on the diagnosis and treatment of vestibular schwannoma | Goldbrunner R, Weller M, Regis J, Lund-Johansen M, Stavrinou P, Reuss D, Evans DG, Lefranc F, Sallabanda K, Falini A, Axon P, Sterkers O, Fariselli L, Wick W, Tonn JC. | Neuro Oncol. 2020 Jan 11;22(1):31-45. doi: 10.1093/neuonc/noz153. | Goldbrunner R | Neuro Oncol | 2020 | 11/09/2019 | PMC6954440 | 10.1093/neuonc/noz153 | |||||||
| Phenotype expansion | Y | 31502250 | A deep intronic SMARCB1 variant associated with schwannomatosis | Smith MJ, Bowers NL, Banks C, Coates-Brown R, Morris KA, Ewans L, Wilson M, Pinner J, Bhaskar SS, Cammarata-Scalisi F, Wallace AJ, Evans DGR. | Clin Genet. 2020 Feb;97(2):376-377. doi: 10.1111/cge.13637. Epub 2019 Sep 9. | Smith MJ | Clin Genet | 2020 | 11/09/2019 | 10.1111/cge.13637 | ||||||||
| Phenotype expansion | Y | 31513549 | Loss-of-function variants in myocardin cause congenital megabladder in humans and mice | Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE. | J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545. | Houweling AC | J Clin Invest | 2019 | 13/09/2019 | PMC6877301 | 10.1172/JCI128545 | |||||||
| Phenotype expansion | Y | 31517149 | HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood | Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D. | Kidney Int Rep. 2019 May 29;4(9):1304-1311. doi: 10.1016/j.ekir.2019.05.019. eCollection 2019 Sep. | Adalat S | Kidney Int Rep | 2019 | 14/09/2019 | PMC6732753 | 10.1016/j.ekir.2019.05.019 | |||||||
| Translational studies | Y | 31537806 | Chromosome instability syndromes | Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. | Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. | Taylor AMR | Nat Rev Dis Primers | 2019 | 21/09/2019 | PMC10617425 | NIHMS1816506 | 10.1038/s41572-019-0113-0 | ||||||
| Mechanistic studies | Y | 31577849 | Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism | Houghton JA, Banerjee I, Shaikh G, Jabbar S, Laver TW, Cheesman E, Chinnoy A, Yau D, Salomon-Estebanez M, Dunne MJ, Flanagan SE. | J Pathol Clin Res. 2020 Jan;6(1):12-16. doi: 10.1002/cjp2.144. Epub 2019 Oct 29. | Houghton JA | J Pathol Clin Res | 2020 | 03/10/2019 | PMC6966704 | 10.1002/cjp2.144 | |||||||
| Phenotype expansion | Y | 31586495 | Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes | Watkins A, Bissell S, Moss J, Oliver C, Clayton-Smith J, Haye L, Heald M, Welham A. | J Neurodev Disord. 2019 Oct 5;11(1):24. doi: 10.1186/s11689-019-9282-0. | Watkins A | J Neurodev Disord | 2019 | 07/10/2019 | PMC6778364 | 10.1186/s11689-019-9282-0 | |||||||
| Clinical trials | Y | 31598719 | Differential DNA methylation correlates with response to methotrexate in rheumatoid arthritis | Nair N, Plant D, Verstappen SM, Isaacs JD, Morgan AW, Hyrich KL, Barton A, Wilson AG; MATURA investigators. | Rheumatology (Oxford). 2020 Jun 1;59(6):1364-1371. doi: 10.1093/rheumatology/kez411. | Nair N | Rheumatology (Oxford) | 2020 | 11/10/2019 | PMC7244777 | 10.1093/rheumatology/kez411 | |||||||
| Disease gene discoveries | Y | 31637422 | Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia | Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study; van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S. | Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. | Vaz FM | Brain | 2019 | 23/10/2019 | PMC6821184 | 10.1093/brain/awz291 | |||||||
| Phenotype expansion | Y | 31636762 | Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report | Dominguez-Valentin M, Seppälä TT, Sampson JR, Macrae F, Winship I, Evans DG, Scott RJ, Burn J, Möslein G, Bernstein I, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lindblom A, Plazzer JP, Tjandra D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Vidal JB, Rønlund K, Nielsen RT, Yilmaz M, Elvang LL, Katz L, Nielsen M, Ten Broeke SW, Nakken S, Hovig E, Sunde L, Kloor M, Knebel Doeberitz MV, Ahadova A, Lindor N, Steinke-Lange V, Holinski-Feder E, Mecklin JP, Møller P. | Hered Cancer Clin Pract. 2019 Oct 14;17:28. doi: 10.1186/s13053-019-0127-3. eCollection 2019. | Dominguez-Valentin M | Hered Cancer Clin Pract | 2019 | 23/10/2019 | PMC6792227 | 10.1186/s13053-019-0127-3 | |||||||
| Translational studies | Y | 31648626 | Cochlear implantation in the era of genomic medicine | Molina-Ramirez LP, Bruce IA, Black GCM. | Cochlear Implants Int. 2020 Mar;21(2):117-120. doi: 10.1080/14670100.2019.1678895. Epub 2019 Oct 24. | Molina-Ramirez LP | Cochlear Implants Int | 2020 | 26/10/2019 | 10.1080/14670100.2019.1678895 | ||||||||
| Mechanistic studies | Y | 31657576 | Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia | Pearson S, Guo B, Pierce A, Azadbakht N, Brazzatti JA, Patassini S, Mulero-Navarro S, Meyer S, Flotho C, Gelb BD, Whetton AD. | J Proteome Res. 2020 Jan 3;19(1):194-203. doi: 10.1021/acs.jproteome.9b00495. Epub 2019 Nov 12. | Pearson S | J Proteome Res | 2020 | 29/10/2019 | PMC6942217 | NIHMS1061043 | 10.1021/acs.jproteome.9b00495 | ||||||
| Translational studies | Y | 31660995 | Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants | Tucker LB, Lamot L, Niemietz I, Chung BK, Cabral DA, Houghton K, Petty RE, Morishita KA, Rice GI, Turvey SE, Gibson WT, Brown KL. | Pediatr Rheumatol Online J. 2019 Oct 28;17(1):70. doi: 10.1186/s12969-019-0374-x. | Tucker LB | Pediatr Rheumatol Online J | 2019 | 30/10/2019 | PMC6819641 | 10.1186/s12969-019-0374-x | |||||||
| Clinical trials | Y | 31666386 | Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage | Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, Neven B, Amselem S, Crow Y, Nathan N. | Thorax. 2020 Jan;75(1):92-95. doi: 10.1136/thoraxjnl-2019-213892. Epub 2019 Oct 30. | Frémond ML | Thorax | 2020 | 01/11/2019 | 10.1136/thoraxjnl-2019-213892 | ||||||||
| Phenotype expansion | Y | 31710517 | Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis | Allen RJ, Guillen-Guio B, Oldham JM, Ma SF, Dressen A, Paynton ML, Kraven LM, Obeidat M, Li X, Ng M, Braybrooke R, Molina-Molina M, Hobbs BD, Putman RK, Sakornsakolpat P, Booth HL, Fahy WA, Hart SP, Hill MR, Hirani N, Hubbard RB, McAnulty RJ, Millar AB, Navaratnam V, Oballa E, Parfrey H, Saini G, Whyte MKB, Zhang Y, Kaminski N, Adegunsoye A, Strek ME, Neighbors M, Sheng XR, Gudmundsson G, Gudnason V, Hatabu H, Lederer DJ, Manichaikul A, Newell JD Jr, O'Connor GT, Ortega VE, Xu H, Fingerlin TE, Bossé Y, Hao K, Joubert P, Nickle DC, Sin DD, Timens W, Furniss D, Morris AP, Zondervan KT, Hall IP, Sayers I, Tobin MD, Maher TM, Cho MH, Hunninghake GM, Schwartz DA, Yaspan BL, Molyneaux PL, Flores C, Noth I, Jenkins RG, Wain LV. | Am J Respir Crit Care Med. 2020 Mar 1;201(5):564-574. doi: 10.1164/rccm.201905-1017OC. | Allen RJ | Am J Respir Crit Care Med | 2020 | 12/11/2019 | PMC7047454 | 10.1164/rccm.201905-1017OC | |||||||
| Disease gene discoveries | Y | 31714006 | Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients | Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K. | Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12. | Ostrowski PJ | Am J Med Genet C Semin Med Genet | 2019 | 13/11/2019 | 10.1002/ajmg.c.31750 | ||||||||
| Phenotype expansion | Y | 31721432 | The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients | Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. | Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. | Ostrowski PJ | Am J Med Genet C Semin Med Genet | 2019 | 14/11/2019 | 10.1002/ajmg.c.31749 | ||||||||
| Phenotype expansion | Y | 31719542 | Clinical and genetic variability in children with partial albinism | Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Kasperaviciute D, Thomas E, Lloyd IC, Douzgou S, Clayton-Smith J, Biswas S, Ashworth JL, Black GCM, Sergouniotis PI. | Sci Rep. 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8. | Campbell P | Sci Rep | 2019 | 14/11/2019 | PMC6851142 | 10.1038/s41598-019-51768-8 | |||||||
| Translational studies | Y | 31719169 | Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY) | Bancroft EK, Saya S, Brown E, Thomas S, Taylor N, Rothwell J, Pope J, Chamberlain A, Page E, Benafif S, Hanson H, Dias A, Mikropoulos C, Izatt L, Side L, Walker L, Donaldson A, Cook JA, Barwell J, Wiles V, Limb L, Eccles DM, Leach MO, Shanley S, Gilbert FJ, Gallagher D, Rajashanker B, Whitehouse RW, Koh DM, Sohaib SA, Evans DG, Eeles RA, Walker LG. | J Med Genet. 2020 Apr;57(4):226-236. doi: 10.1136/jmedgenet-2019-106407. Epub 2019 Nov 12. | Bancroft EK | J Med Genet | 2020 | 14/11/2019 | PMC7146942 | 10.1136/jmedgenet-2019-106407 | |||||||
| Mechanistic studies | Y | 31755959 | Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling | Melki I, Devilliers H, Gitiaux C, Bondet V, Duffy D, Charuel JL, Miyara M, Bokov P, Kheniche A, Kwon T, Authier FJ, Allenbach Y, Belot A, Bodemer C, Bourrat E, Dumaine C, Fabien N, Faye A, Frémond ML, Hadchouel A, Kitabayashi N, Lepelley A, Martin-Niclos MJ, Mudumba S, Musset L, Quartier P, Rice GI, Seabra L, Uettwiller F, Uggenti C, Viel S, Rodero MP, Crow YJ, Bader-Meunier B. | Rheumatology (Oxford). 2020 Aug 1;59(8):1927-1937. doi: 10.1093/rheumatology/kez525. | Melki I | Rheumatology (Oxford) | 2020 | 23/11/2019 | 10.1093/rheumatology/kez525 | ||||||||
| Translational studies | Y | 31767964 | The integration of genomics into clinical ophthalmic services in the UK | Black GC, MacEwen C, Lotery AJ. | Eye (Lond). 2020 Jun;34(6):993-996. doi: 10.1038/s41433-019-0704-8. Epub 2019 Nov 25. | Black GC | Eye (Lond) | 2020 | 27/11/2019 | PMC7253480 | 10.1038/s41433-019-0704-8 | |||||||
| Mechanistic studies | Y | 31767563 | Detection of Circulating and Disseminated Neuroblastoma Cells Using the ImageStream Flow Cytometer for Use as Predictive and Pharmacodynamic Biomarkers | Merugu S, Chen L, Gavens E, Gabra H, Brougham M, Makin G, Ng A, Murphy D, Gabriel AS, Robinson ML, Wright JH, Burchill SA, Humphreys A, Bown N, Jamieson D, Tweddle DA. | Clin Cancer Res. 2020 Jan 1;26(1):122-134. doi: 10.1158/1078-0432.CCR-19-0656. Epub 2019 Nov 25. | Merugu S | Clin Cancer Res | 2020 | 27/11/2019 | 10.1158/1078-0432.CCR-19-0656 | ||||||||
| Phenotype expansion | Y | 31772029 | Cardiac valve involvement in ADAR-related type I interferonopathy | Crow Y, Keshavan N, Barbet JP, Bercu G, Bondet V, Boussard C, Dedieu N, Duffy D, Hully M, Giardini A, Gitiaux C, Rice GI, Seabra L, Bader-Meunier B, Rahman S. | J Med Genet. 2020 Jul;57(7):475-478. doi: 10.1136/jmedgenet-2019-106457. Epub 2019 Nov 26. | Crow Y | J Med Genet | 2020 | 28/11/2019 | 10.1136/jmedgenet-2019-106457 | ||||||||
| Phenotype expansion | Y | 31777768 | Differentiating Familial Chylomicronemia Syndrome From Multifactorial Severe Hypertriglyceridemia by Clinical Profiles | O'Dea LSL, MacDougall J, Alexander VJ, Digenio A, Hubbard B, Arca M, Moriarty PM, Kastelein JJP, Bruckert E, Soran H, Witztum JL, Hegele RA, Gaudet D. | J Endocr Soc. 2019 Oct 11;3(12):2397-2410. doi: 10.1210/js.2019-00214. eCollection 2019 Dec 1. | O'Dea LSL | J Endocr Soc | 2019 | 29/11/2019 | PMC6864364 | 10.1210/js.2019-00214 | |||||||
| Phenotype expansion | Y | 31779033 | Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy | Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. | Neuropediatrics. 2020 Jun;51(3):178-184. doi: 10.1055/s-0039-3400979. Epub 2019 Nov 28. | Van Eyck L | Neuropediatrics | 2020 | 29/11/2019 | 10.1055/s-0039-3400979 | ||||||||
| Mechanistic studies | Y | 31794431 | Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability | Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ. | J Clin Invest. 2020 Mar 2;130(3):1431-1445. doi: 10.1172/JCI131145. | Li L | J Clin Invest | 2020 | 04/12/2019 | PMC7269600 | 10.1172/JCI131145 | |||||||
| Mechanistic studies | Y | 31808745 | Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease | Jafree DJ, Moulding D, Kolatsi-Joannou M, Perretta Tejedor N, Price KL, Milmoe NJ, Walsh CL, Correra RM, Winyard PJ, Harris PC, Ruhrberg C, Walker-Samuel S, Riley PR, Woolf AS, Scambler PJ, Long DA. | Elife. 2019 Dec 6;8:e48183. doi: 10.7554/eLife.48183. | Jafree DJ | Elife | 2019 | 07/12/2019 | PMC6948954 | 10.7554/eLife.48183 | |||||||
| Mechanistic studies | Y | 31811534 | A role for OCRL in glomerular function and disease | Preston R, Naylor RW, Stewart G, Bierzynska A, Saleem MA, Lowe M, Lennon R. | Pediatr Nephrol. 2020 Apr;35(4):641-648. doi: 10.1007/s00467-019-04317-4. Epub 2019 Dec 6. | Preston R | Pediatr Nephrol | 2020 | 08/12/2019 | PMC7056711 | 10.1007/s00467-019-04317-4 | |||||||
| Phenotype expansion | Y | 31827252 | A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families | Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG. | J Hum Genet. 2020 Mar;65(3):305-311. doi: 10.1038/s10038-019-0706-1. Epub 2019 Dec 12. | Demain LAM | J Hum Genet | 2020 | 13/12/2019 | PMC7500128 | NIHMS1627551 | 10.1038/s10038-019-0706-1 | ||||||
| Phenotype expansion | Y | 31831373 | Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals | Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, Oliveira P, Vialard L, Wallis Y, Maher ER, Woodward ER. | Eur Urol Oncol. 2020 Dec;3(6):764-772. doi: 10.1016/j.euo.2019.11.002. Epub 2019 Dec 9. | Forde C | Eur Urol Oncol | 2020 | 14/12/2019 | 10.1016/j.euo.2019.11.002 | ||||||||
| Mechanistic studies | Y | 31836668 | Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 | Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. | Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. | Duncan CJA | Sci Immunol | 2019 | 15/12/2019 | PMC7115903 | EMS86640 | 10.1126/sciimmunol.aav7501 | ||||||
| Mechanistic studies | Y | 31836858 | Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease | Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. | Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. | Jiman OA | Eur J Hum Genet | 2020 | 15/12/2019 | PMC7171123 | 10.1038/s41431-019-0548-5 | |||||||
| Phenotype expansion | Y | 31838126 | GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G(α/11) Mosaicism and the Associated Clinical Diagnoses | Polubothu S, Al-Olabi L, Carmen Del Boente M, Chacko A, Eleftheriou G, Glover M, Jiménez-Gallo D, Jones EA, Lomas D, Fölster-Holst R, Syed S, Tasani M, Thomas A, Tisdall M, Torrelo A, Aylett S, Kinsler VA. | J Invest Dermatol. 2020 May;140(5):1110-1113. doi: 10.1016/j.jid.2019.10.019. Epub 2019 Dec 12. | Polubothu S | J Invest Dermatol | 2020 | 16/12/2019 | PMC7187890 | 10.1016/j.jid.2019.10.019 | |||||||
| Translational studies | Y | 31841383 | Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families | Yang X, Leslie G, Doroszuk A, Schneider S, Allen J, Decker B, Dunning AM, Redman J, Scarth J, Plaskocinska I, Luccarini C, Shah M, Pooley K, Dorling L, Lee A, Adank MA, Adlard J, Aittomäki K, Andrulis IL, Ang P, Barwell J, Bernstein JL, Bobolis K, Borg Å, Blomqvist C, Claes KBM, Concannon P, Cuggia A, Culver JO, Damiola F, de Pauw A, Diez O, Dolinsky JS, Domchek SM, Engel C, Evans DG, Fostira F, Garber J, Golmard L, Goode EL, Gruber SB, Hahnen E, Hake C, Heikkinen T, Hurley JE, Janavicius R, Kleibl Z, Kleiblova P, Konstantopoulou I, Kvist A, Laduca H, Lee ASG, Lesueur F, Maher ER, Mannermaa A, Manoukian S, McFarland R, McKinnon W, Meindl A, Metcalfe K, Mohd Taib NA, Moilanen J, Nathanson KL, Neuhausen S, Ng PS, Nguyen-Dumont T, Nielsen SM, Obermair F, Offit K, Olopade OI, Ottini L, Penkert J, Pylkäs K, Radice P, Ramus SJ, Rudaitis V, Side L, Silva-Smith R, Silvestri V, Skytte AB, Slavin T, Soukupova J, Tondini C, Trainer AH, Unzeitig G, Usha L, van Overeem Hansen T, Whitworth J, Wood M, Yip CH, Yoon SY, Yussuf A, Zogopoulos G, Goldgar D, Hopper JL, Chenevix-Trench G, Pharoah P, George SHL, Balmaña J, Houdayer C, et al. | J Clin Oncol. 2020 Mar 1;38(7):674-685. doi: 10.1200/JCO.19.01907. Epub 2019 Dec 16. | Yang X | J Clin Oncol | 2020 | 17/12/2019 | PMC7049229 | 10.1200/JCO.19.01907 | |||||||
| Phenotype expansion | Y | 31844176 | Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis | Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K. | Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3. | Weiss K | Genet Med | 2020 | 18/12/2019 | 10.1038/s41436-019-0727-3 | ||||||||
| Genetic counselling / PPIE | Y | 31848469 | Clinical utility of genetic testing in 201 preschool children with inherited eye disorders | Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. | Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18. | Lenassi E | Genet Med | 2020 | 19/12/2019 | PMC7118019 | 10.1038/s41436-019-0722-8 | |||||||
| Mechanistic studies | Y | 31855120 | Hampering brain tumor proliferation and migration using peptide nanofiber:siPLK1/MMP2 complexes | Mazza M, Ahmad H, Hadjidemetriou M, Agliardi G, Pathmanaban ON, King AT, Bigger BW, Vranic S, Kostarelos K. | Nanomedicine (Lond). 2019 Dec;14(24):3127-3142. doi: 10.2217/nnm-2019-0298. | Mazza M | Nanomedicine (Lond) | 2019 | 20/12/2019 | 10.2217/nnm-2019-0298 | ||||||||
| Phenotype expansion | Y | 31898846 | Genetic and phenotypic spectrum associated with IFIH1 gain-of-function | Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. | Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. | Rice GI | Hum Mutat | 2020 | 04/01/2020 | PMC7457149 | NIHMS1618607 | 10.1002/humu.23975 | ||||||
| Mechanistic studies | Y | 31928709 | Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency | Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. | Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. | Beck DB | Am J Hum Genet | 2020 | 14/01/2020 | PMC7010978 | 10.1016/j.ajhg.2019.12.007 | |||||||
| Phenotype expansion | Y | 31949313 | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome | Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. | Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17. | Cuvertino S | Genet Med | 2020 | 18/01/2020 | PMC7200597 | 10.1038/s41436-019-0743-3 | |||||||
| Disease gene discoveries | Y | 31980905 | A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis | Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L. | Hum Genet. 2020 Apr;139(4):461-472. doi: 10.1007/s00439-019-02102-9. Epub 2020 Jan 24. | Arnaud P | Hum Genet | 2020 | 26/01/2020 | 10.1007/s00439-019-02102-9 | ||||||||
| Translational studies | Y | 32027664 | Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 | Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, Ellard S, Shah P, Banerjee I, Flanagan SE. | PLoS One. 2020 Feb 6;15(2):e0228417. doi: 10.1371/journal.pone.0228417. eCollection 2020. | Yau D | PLoS One | 2020 | 07/02/2020 | PMC7004321 | 10.1371/journal.pone.0228417 | |||||||
| Mechanistic studies | Y | 32034258 | Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors | Karda R, Rahim AA, Wong AMS, Suff N, Diaz JA, Perocheau DP, Tijani M, Ng J, Baruteau J, Martin NP, Hughes M, Delhove JMKM, Counsell JR, Cooper JD, Henckaerts E, Mckay TR, Buckley SMK, Waddington SN. | Sci Rep. 2020 Feb 7;10(1):2121. doi: 10.1038/s41598-020-59075-3. | Karda R | Sci Rep | 2020 | 09/02/2020 | PMC7005886 | 10.1038/s41598-020-59075-3 | |||||||
| Translational studies | Y | 32050448 | Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders | Green DJ, Sallah SR, Ellingford JM, Lovell SC, Sergouniotis PI. | Genes (Basel). 2020 Feb 9;11(2):179. doi: 10.3390/genes11020179. | Green DJ | Genes (Basel) | 2020 | 14/02/2020 | PMC7074066 | 10.3390/genes11020179 | |||||||
| Translational studies | Y | 32057196 | Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA | Parker H, Ellison SM, Holley RJ, O'Leary C, Liao A, Asadi J, Glover E, Ghosh A, Jones S, Wilkinson FL, Brough D, Pinteaux E, Boutin H, Bigger BW. | EMBO Mol Med. 2020 Mar 6;12(3):e11185. doi: 10.15252/emmm.201911185. Epub 2020 Feb 14. | Parker H | EMBO Mol Med | 2020 | 15/02/2020 | PMC7059006 | 10.15252/emmm.201911185 | |||||||
| Phenotype expansion | Y | 32064904 | Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families | Faily S, Perveen R, Chandler K, Clayton-Smith J. | Cleft Palate Craniofac J. 2020 May;57(5):606-615. doi: 10.1177/1055665620902880. Epub 2020 Feb 17. | Faily S | Cleft Palate Craniofac J | 2020 | 18/02/2020 | 10.1177/1055665620902880 | ||||||||
| Genetic counselling / PPIE | Y | 32077165 | Evaluating a genetic counseling narrative group session for people who have tested positive for the Huntington's disease expansion: An interpretative phenomenological analysis | Spiers J, Smith JA, Ferrer-Duch M, Moldovan R, Roche J, MacLeod R. | J Genet Couns. 2020 Dec;29(6):1015-1025. doi: 10.1002/jgc4.1229. Epub 2020 Feb 19. | Spiers J | J Genet Couns | 2020 | 21/02/2020 | 10.1002/jgc4.1229 | ||||||||
| Clinical trials | Y | 32094925 | Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR | Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE. | Nat Med. 2020 Mar;26(3):354-359. doi: 10.1038/s41591-020-0763-1. Epub 2020 Feb 24. | Cehajic-Kapetanovic J | Nat Med | 2020 | 26/02/2020 | PMC7104347 | EMS85431 | 10.1038/s41591-020-0763-1 | ||||||
| Disease gene discoveries | Y | 32100099 | Biallelic mutations in NRROS cause an early onset lethal microgliopathy | Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A, Eaton J, Hobbs V, Mansour S, Nolan M, Rice GI, Rodero MP, Seabra L, Uggenti C, Livingston JH, Bridges LR, Jeffrey IJM, Crow YJ. | Acta Neuropathol. 2020 May;139(5):947-951. doi: 10.1007/s00401-020-02137-7. Epub 2020 Feb 25. | Smith C | Acta Neuropathol | 2020 | 27/02/2020 | PMC7181551 | 10.1007/s00401-020-02137-7 | |||||||
| Phenotype expansion | Y | 32109419 | Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders | Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. | Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. | Barbosa S | Am J Hum Genet | 2020 | 29/02/2020 | PMC7058823 | 10.1016/j.ajhg.2020.01.018 | |||||||
| Phenotype expansion | Y | 32116545 | Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor | Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. | Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. | Kumar R | Front Mol Neurosci | 2020 | 03/03/2020 | PMC7026477 | 10.3389/fnmol.2020.00012 | |||||||
| Mechanistic studies | Y | 32147508 | Basement membrane ligands initiate distinct signalling networks to direct cell shape | Randles MJ, Lausecker F, Humphries JD, Byron A, Clark SJ, Miner JH, Zent R, Humphries MJ, Lennon R. | Matrix Biol. 2020 Aug;90:61-78. doi: 10.1016/j.matbio.2020.02.005. Epub 2020 Mar 6. | Randles MJ | Matrix Biol | 2020 | 10/03/2020 | PMC7327512 | NIHMS1595147 | 10.1016/j.matbio.2020.02.005 | ||||||
| Translational studies | Y | 32152366 | Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships | Olubando D, Hopton C, Eden J, Caswell R, Lowri Thomas N, Roberts SA, Morris-Rosendahl D, Venetucci L, Newman WG. | J Hum Genet. 2020 Jun;65(6):531-539. doi: 10.1038/s10038-020-0738-6. Epub 2020 Mar 10. | Olubando D | J Hum Genet | 2020 | 11/03/2020 | 10.1038/s10038-020-0738-6 | ||||||||
| Translational studies | Y | 32156722 | Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition | Mai PL, Sand SR, Saha N, Oberti M, Dolafi T, DiGianni L, Root EJ, Kong X, Bremer RC, Santiago KM, Bojadzieva J, Barley D, Novokmet A, Ketchum KA, Nguyen N, Jacob S, Nichols KE, Kratz CP, Schiffman JD, Evans DG, Achatz MI, Strong LC, Garber JE, Ladwa SA, Malkin D, Weitzel JN. | Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):927-935. doi: 10.1158/1055-9965.EPI-19-1113. Epub 2020 Mar 10. | Mai PL | Cancer Epidemiol Biomarkers Prev | 2020 | 12/03/2020 | PMC7196512 | NIHMS1574768 | 10.1158/1055-9965.EPI-19-1113 | ||||||
| Translational studies | Y | 32161190 | Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation | Martin E, Minet N, Boschat AC, Sanquer S, Sobrino S, Lenoir C, de Villartay JP, Leite-de-Moraes M, Picard C, Soudais C, Bourne T, Hambleton S, Hughes SM, Wynn RF, Briggs TA; Genomics England Research Consortium; Patel S, Lawrence MG, Fischer A, Arkwright PD, Latour S. | JCI Insight. 2020 Mar 12;5(5):e133880. doi: 10.1172/jci.insight.133880. | Martin E | JCI Insight | 2020 | 13/03/2020 | PMC7141395 | 10.1172/jci.insight.133880 | |||||||
| Translational studies | Y | 32176120 | Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation | Molina-Ramírez LP, Lenassi E, Ellingford JM, Sergouniotis PI, Ramsden SC, Bruce IA, Black GCM. | Otol Neurotol. 2020 Apr;41(4):431-437. doi: 10.1097/MAO.0000000000002588. | Molina-Ramírez LP | Otol Neurotol | 2020 | 17/03/2020 | 10.1097/MAO.0000000000002588 | ||||||||
| Mechanistic studies | Y | 32179818 | The Transcription Factor-microRNA Regulatory Network during hESC-chondrogenesis | Griffiths R, Woods S, Cheng A, Wang P, Griffiths-Jones S, Ronshaugen M, Kimber SJ. | Sci Rep. 2020 Mar 16;10(1):4744. doi: 10.1038/s41598-020-61734-4. | Griffiths R | Sci Rep | 2020 | 18/03/2020 | PMC7075910 | 10.1038/s41598-020-61734-4 | |||||||
| Letters/corrections | Y | 32203228 | Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome | Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. | Genet Med. 2020 May;22(5):980. doi: 10.1038/s41436-020-0784-7. | Cuvertino S | Genet Med | 2020 | 24/03/2020 | PMC7200592 | 10.1038/s41436-020-0784-7 | |||||||
| Translational studies | Y | 32205319 | Genetic Disorders of the Glomerular Filtration Barrier | Li AS, Ingham JF, Lennon R. | Clin J Am Soc Nephrol. 2020 Dec 7;15(12):1818-1828. doi: 10.2215/CJN.11440919. Epub 2020 Mar 23. | Li AS | Clin J Am Soc Nephrol | 2020 | 25/03/2020 | PMC7769017 | 10.2215/CJN.11440919 | |||||||
| Translational studies | Y | 32227096 | Actinomycin D downregulates Sox2 and improves survival in preclinical models of recurrent glioblastoma | Taylor JT, Ellison S, Pandele A, Wood S, Nathan E, Forte G, Parker H, Zindy E, Elvin M, Dickson A, Williams KJ, Karabatsou K, McCabe M, McBain C, Bigger BW. | Neuro Oncol. 2020 Sep 29;22(9):1289-1301. doi: 10.1093/neuonc/noaa051. | Taylor JT | Neuro Oncol | 2020 | 01/04/2020 | PMC7523458 | 10.1093/neuonc/noaa051 | |||||||
| Translational studies | Y | 32243864 | DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes | Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. | Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. | Choufani S | Am J Hum Genet | 2020 | 04/04/2020 | PMC7212265 | 10.1016/j.ajhg.2020.03.008 | |||||||
| Translational studies | Y | 32274739 | Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy | Roberts NA, Woolf AS. | Adv Exp Med Biol. 2020;1221:807-819. doi: 10.1007/978-3-030-34521-1_35. | Roberts NA | Adv Exp Med Biol | 2020 | 11/04/2020 | 10.1007/978-3-030-34521-1_35 | ||||||||
| Translational studies | Y | 32313206 | Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar | Sallah SR, Sergouniotis PI, Barton S, Ramsden S, Taylor RL, Safadi A, Kabir M, Ellingford JM, Lench N, Lovell SC, Black GCM. | Eur J Hum Genet. 2020 Sep;28(9):1274-1282. doi: 10.1038/s41431-020-0623-y. Epub 2020 Apr 20. | Sallah SR | Eur J Hum Genet | 2020 | 22/04/2020 | PMC7608274 | 10.1038/s41431-020-0623-y | |||||||
| Disease gene discoveries | Y | 32325224 | Congenital hyperinsulinism due to mutations in HNF1A | Yau D, Colclough K, Natarajan A, Parikh R, Canham N, Didi M, Senniappan S, Banerjee I. | Eur J Med Genet. 2020 Jun;63(6):103928. doi: 10.1016/j.ejmg.2020.103928. Epub 2020 Apr 20. | Yau D | Eur J Med Genet | 2020 | 24/04/2020 | 10.1016/j.ejmg.2020.103928 | ||||||||
| Disease gene discoveries | Y | 32322566 | A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy | Maharaj A, Theodorou D, Banerjee II, Metherell LA, Prasad R, Wallace D. | Front Pediatr. 2020 Apr 8;8:151. doi: 10.3389/fped.2020.00151. eCollection 2020. | Maharaj A | Front Pediatr | 2020 | 24/04/2020 | PMC7156639 | 10.3389/fped.2020.00151 | |||||||
| Mechanistic studies | Y | 32333448 | EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type | Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attié-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT. | Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3. | Thomas HB | Hum Mutat | 2020 | 26/04/2020 | 10.1002/humu.24027 | ||||||||
| Phenotype expansion | Y | 32333401 | Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature | De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A. | Clin Genet. 2020 Nov;98(5):423-432. doi: 10.1111/cge.13761. Epub 2020 May 11. | De Luca C | Clin Genet | 2020 | 26/04/2020 | 10.1111/cge.13761 | ||||||||
| Translational studies | Y | 32334637 | Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders | Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S; ERN ITHACA. | Orphanet J Rare Dis. 2020 Apr 25;15(1):103. doi: 10.1186/s13023-020-1349-1. | Smith M | Orphanet J Rare Dis | 2020 | 27/04/2020 | PMC7183125 | 10.1186/s13023-020-1349-1 | |||||||
| Mechanistic studies | Y | 32359472 | Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts | Badrock AP, Uggenti C, Wacheul L, Crilly S, Jenkinson EM, Rice GI, Kasher PR, Lafontaine DLJ, Crow YJ, O'Keefe RT. | Am J Hum Genet. 2020 May 7;106(5):694-706. doi: 10.1016/j.ajhg.2020.04.003. Epub 2020 Apr 30. | Badrock AP | Am J Hum Genet | 2020 | 04/05/2020 | PMC7212298 | 10.1016/j.ajhg.2020.04.003 | |||||||
| Phenotype expansion | Y | 32376980 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, et al. | Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. | Castilla-Vallmanya L | Genet Med | 2020 | 08/05/2020 | PMC8093014 | NIHMS1691645 | 10.1038/s41436-020-0792-7 | ||||||
| Mechanistic studies | Y | 32383811 | Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R | Goldgraben MA, Fewings E, Larionov A, Scarth J, Redman J, Telford N, Arkwright PD, Bonney D, Wilks D, Kulkarni S, Taylor AMR, Tischkowitz MD, Meyer S. | Pediatr Blood Cancer. 2020 Sep;67(9):e28354. doi: 10.1002/pbc.28354. Epub 2020 May 8. | Goldgraben MA | Pediatr Blood Cancer | 2020 | 09/05/2020 | 10.1002/pbc.28354 | ||||||||
| Clinical trials | Y | 32386680 | Clinical trial recommendations for potential Alport syndrome therapies | Weinstock BA, Feldman DL, Fornoni A, Gross O, Kashtan CE, Lagas S, Lennon R, Miner JH, Rheault MN, Simon JF; Workshop Participants. | Kidney Int. 2020 Jun;97(6):1109-1116. doi: 10.1016/j.kint.2020.02.029. Epub 2020 Apr 6. | Weinstock BA | Kidney Int | 2020 | 11/05/2020 | PMC7614298 | EMS170923 | 10.1016/j.kint.2020.02.029 | ||||||
| Phenotype expansion | Y | 32398773 | Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers | Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG, Genuardi M, Hes FJ, Hüneburg R, Järvinen H, Lalloo F, Moeslein G, Renkonen-Sinisalo L, Resta N, Spier I, Varvara D, Vasen H, Latchford AR, Heinimann K. | Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1. Epub 2020 May 13. | Blatter R | Genet Med | 2020 | 14/05/2020 | PMC7462743 | 10.1038/s41436-020-0826-1 | |||||||
| Phenotype expansion | Y | 32409512 | De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features | Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L. | J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. | Lehalle D | J Med Genet | 2020 | 16/05/2020 | 10.1136/jmedgenet-2019-106508 | ||||||||
| Mechanistic studies | Y | 32433026 | Membrane trafficking in health and disease | Yarwood R, Hellicar J, Woodman PG, Lowe M. | Dis Model Mech. 2020 Apr 30;13(4):dmm043448. doi: 10.1242/dmm.043448. | Yarwood R | Dis Model Mech | 2020 | 21/05/2020 | PMC7197876 | 10.1242/dmm.043448 | |||||||
| Mechanistic studies | Y | 32461616 | Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals | Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. | Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. | Whiffin N | Nat Commun | 2020 | 29/05/2020 | PMC7253449 | 10.1038/s41467-019-10717-9 | |||||||
| Phenotype expansion | Y | 32499606 | SMAD6 variants in craniosynostosis: genotype and phenotype evaluation | Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. | Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. | Calpena E | Genet Med | 2020 | 06/06/2020 | PMC7462747 | 10.1038/s41436-020-0817-2 | |||||||
| Clinical trials | Y | 32503896 | Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis | De Leo E, Elmonem MA, Berlingerio SP, Berquez M, Festa BP, Raso R, Bellomo F, Starborg T, Janssen MJ, Abbaszadeh Z, Cairoli S, Goffredo BM, Masereeuw R, Devuyst O, Lowe M, Levtchenko E, Luciani A, Emma F, Rega LR. | J Am Soc Nephrol. 2020 Jul;31(7):1522-1537. doi: 10.1681/ASN.2019090956. Epub 2020 Jun 5. | De Leo E | J Am Soc Nephrol | 2020 | 07/06/2020 | PMC7351012 | 10.1681/ASN.2019090956 | |||||||
| Phenotype expansion | Y | 32534991 | Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations | Madhu R, Beaman GM, Chandler KE, O'Sullivan J, Urquhart JE, Khan N, Martindale E, Briggs TA, Clayton-Smith J, Higgs J, Batra G, Kerr B, Woolf AS, Newman WG. | Eur J Med Genet. 2020 Sep;63(9):103974. doi: 10.1016/j.ejmg.2020.103974. Epub 2020 Jun 12. | Madhu R | Eur J Med Genet | 2020 | 15/06/2020 | PMC7445424 | 10.1016/j.ejmg.2020.103974 | |||||||
| Translational studies | Y | 32539836 | Mowat-Wilson syndrome: growth charts | Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. | Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. | Ivanovski I | Orphanet J Rare Dis | 2020 | 17/06/2020 | PMC7294656 | 10.1186/s13023-020-01418-4 | |||||||
| Phenotype expansion | Y | 32553831 | Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression | Robey RC, Wilcock A, Bonin H, Beaman G, Myers B, Grattan C, Briggs TA, Arkwright PD. | J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3549-3556. doi: 10.1016/j.jaip.2020.05.057. Epub 2020 Jun 15. | Robey RC | J Allergy Clin Immunol Pract | 2020 | 20/06/2020 | 10.1016/j.jaip.2020.05.057 | ||||||||
| Mechanistic studies | Y | 32609936 | Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice | Manak I, Gurney AM, McCloskey KD, Woolf AS, Roberts NA. | Neurourol Urodyn. 2020 Sep;39(7):1930-1938. doi: 10.1002/nau.24450. Epub 2020 Jul 1. | Manak I | Neurourol Urodyn | 2020 | 02/07/2020 | 10.1002/nau.24450 | ||||||||
| Clinical trials | Y | 32618729 | Non-HDL or LDL cholesterol in heterozygous familial hypercholesterolaemia: findings of the Simon Broome Register | Soran H, Cooper JA, Durrington PN, Capps N, McDowell IFW, Humphries SE, Neil A; Simon Broome Familial Hyperlipidaemia Register Group. | Curr Opin Lipidol. 2020 Aug;31(4):167-175. doi: 10.1097/MOL.0000000000000692. | Soran H | Curr Opin Lipidol | 2020 | 04/07/2020 | 10.1097/MOL.0000000000000692 | ||||||||
| Translational studies | Y | 32616389 | Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy | Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. | Mol Genet Metab. 2020 Sep-Oct;131(1-2):116-123. doi: 10.1016/j.ymgme.2020.06.008. Epub 2020 Jun 24. | Jones SA | Mol Genet Metab | 2020 | 04/07/2020 | 10.1016/j.ymgme.2020.06.008 | ||||||||
| Phenotype expansion | Y | 32636483 | Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation | Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. | Genet Med. 2020 Sep;22(9):1567. doi: 10.1038/s41436-020-0886-2. | Calpena E | Genet Med | 2020 | 09/07/2020 | PMC7462741 | 10.1038/s41436-020-0886-2 | |||||||
| Translational studies | Y | 32665254 | Genetic testing in the acute setting: a round table discussion | Newman WG. | J Med Ethics. 2020 Aug;46(8):533. doi: 10.1136/medethics-2020-106104. Epub 2020 Jul 14. | Newman WG | J Med Ethics | 2020 | 16/07/2020 | 10.1136/medethics-2020-106104 | ||||||||
| Phenotype expansion | Y | 32725128 | Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling | Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, Chhun S, Coulomb l'Hermine A, Depp M, Legendre M, Mackenzie KJ, Marey J, McDougall C, McKenzie KJ, Molina TJ, Neven B, Seabra L, Thumerelle C, Wislez M, Nathan N, Manel N, Crow YJ, Frémond ML. | J Exp Med. 2020 Nov 2;217(11):e20200600. doi: 10.1084/jem.20200600. | Lepelley A | J Exp Med | 2020 | 30/07/2020 | PMC7596811 | 10.1084/jem.20200600 | |||||||
| Mechanistic studies | Y | 32735620 | Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells | Wood KA, Rowlands CF, Thomas HB, Woods S, O'Flaherty J, Douzgou S, Kimber SJ, Newman WG, O'Keefe RT. | PLoS One. 2020 Jul 31;15(7):e0233582. doi: 10.1371/journal.pone.0233582. eCollection 2020. | Wood KA | PLoS One | 2020 | 01/08/2020 | PMC7394406 | 10.1371/journal.pone.0233582 | |||||||
| Mechanistic studies | Y | 32764605 | Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders | Gerrard DT, Berry AA, Jennings RE, Birket MJ, Zarrineh P, Garstang MG, Withey SL, Short P, Jiménez-Gancedo S, Firbas PN, Donaldson I, Sharrocks AD, Hanley KP, Hurles ME, Gomez-Skarmeta JL, Bobola N, Hanley NA. | Nat Commun. 2020 Aug 6;11(1):3920. doi: 10.1038/s41467-020-17305-2. | Gerrard DT | Nat Commun | 2020 | 09/08/2020 | PMC7413392 | 10.1038/s41467-020-17305-2 | |||||||
| Phenotype expansion | Y | 32769115 | Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration | Tavares TP, Mitchell DGV, Coleman KK, Coleman BL, Shoesmith CL, Butler CR, Santana I, Danek A, Gerhard A, de Mendonca A, Borroni B, Tartaglia MC, Graff C, Galimberti D, Tagliavini F, Moreno F, Frisoni G, Rowe JB, Levin J, Van Swieten JC, Otto M, Synofzik M, Sanchez-Valle R, Vandenberghe R, Laforce RJ, Ghidoni R, Sorbi S, Ducharme S, Masellis M, Rohrer J, Finger E; GENFI Initiative. | J Neurol Neurosurg Psychiatry. 2020 Sep;91(9):975-984. doi: 10.1136/jnnp-2020-322987. Epub 2020 Aug 7. | Tavares TP | J Neurol Neurosurg Psychiatry | 2020 | 10/08/2020 | PMC7611534 | EMS98257 | 10.1136/jnnp-2020-322987 | ||||||
| Letters/corrections | Y | 32792624 | Reply to Kratz et al | Frebourg T, Lagercrantz SB, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. | Eur J Hum Genet. 2020 Nov;28(11):1483-1485. doi: 10.1038/s41431-020-00710-y. Epub 2020 Aug 13. | Frebourg T | Eur J Hum Genet | 2020 | 15/08/2020 | PMC7576774 | 10.1038/s41431-020-00710-y | |||||||
| Phenotype expansion | Y | 32817297 | Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa | Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. | J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. | Olivier G | J Med Genet | 2021 | 21/08/2020 | 10.1136/jmedgenet-2020-107150 | ||||||||
| Phenotype expansion | Y | 32830346 | Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity | Smith PS, West H, Whitworth J, Castle B, Sansbury FH, Warren AY, Woodward ER, Tischkowitz M, Maher ER. | Genes Chromosomes Cancer. 2021 Jan;60(1):5-16. doi: 10.1002/gcc.22893. Epub 2020 Sep 19. | Smith PS | Genes Chromosomes Cancer | 2021 | 25/08/2020 | 10.1002/gcc.22893 | ||||||||
| Translational studies | Y | 32832699 | Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome | Banerjee I, Senniappan S, Laver TW, Caswell R, Zenker M, Mohnike K, Cheetham T, Wakeling MN, Ismail D, Lennerz B, Splitt M, Berberoğlu M, Empting S, Wabitsch M, Pötzsch S, Shah P, Siklar Z, Verge CF, Weedon MN, Ellard S, Hussain K, Flanagan SE. | Wellcome Open Res. 2020 Aug 4;4:149. doi: 10.12688/wellcomeopenres.15465.2. eCollection 2019. | Banerjee I | Wellcome Open Res | 2020 | 27/08/2020 | PMC7422856 | 10.12688/wellcomeopenres.15465.2 | |||||||
| Translational studies | Y | 32850778 | SLC20A1 Is Involved in Urinary Tract and Urorectal Development | Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. | Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020. | Rieke JM | Front Cell Dev Biol | 2020 | 28/08/2020 | PMC7426641 | 10.3389/fcell.2020.00567 | |||||||
| Phenotype expansion | Y | 32889543 | Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders | Vaz FM, McDermott JH, Engelen M, Banka S. | Brain. 2020 Sep 1;143(9):e77. doi: 10.1093/brain/awaa230. | Vaz FM | Brain | 2020 | 05/09/2020 | PMC9172623 | 10.1093/brain/awaa230 | |||||||
| Disease gene discoveries | Y | 32891193 | Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations | Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. | Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. | Connaughton DM | Am J Hum Genet | 2020 | 06/09/2020 | PMC7536580 | 10.1016/j.ajhg.2020.08.013 | |||||||
| Mechanistic studies | Y | 32917767 | Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN) | Hyder Z, Fairclough A, Groom M, Getty J, Alexander E, van Veen EM, Makin G, Sethuraman C, Tang V, Evans DG, Maher ER, Woodward ER. | J Med Genet. 2021 Sep;58(9):581-585. doi: 10.1136/jmedgenet-2020-107087. Epub 2020 Sep 11. | Hyder Z | J Med Genet | 2021 | 12/09/2020 | 10.1136/jmedgenet-2020-107087 | ||||||||
| Phenotype expansion | Y | 32941469 | The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study | Ryan NAJ, McMahon R, Tobi S, Snowsill T, Esquibel S, Wallace AJ, Bunstone S, Bowers N, Mosneag IE, Kitson SJ, O'Flynn H, Ramchander NC, Sivalingam VN, Frayling IM, Bolton J, McVey RJ, Evans DG, Crosbie EJ. | PLoS Med. 2020 Sep 17;17(9):e1003263. doi: 10.1371/journal.pmed.1003263. eCollection 2020 Sep. | Ryan NAJ | PLoS Med | 2020 | 17/09/2020 | PMC7497985 | 10.1371/journal.pmed.1003263 | |||||||
| Clinical trials | Y | 32944950 | Novel therapies for mucopolysaccharidosis type III | Seker Yilmaz B, Davison J, Jones SA, Baruteau J. | J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28. | Seker Yilmaz B | J Inherit Metab Dis | 2021 | 18/09/2020 | PMC8436764 | 10.1002/jimd.12316 | |||||||
| Translational studies | Y | 32949496 | Dual Purpose Vectors for Rare Neurological Diseases | Bigger BW. | Mol Ther. 2020 Oct 7;28(10):2104-2105. doi: 10.1016/j.ymthe.2020.09.017. Epub 2020 Sep 18. | Bigger BW | Mol Ther | 2020 | 19/09/2020 | PMC7545005 | 10.1016/j.ymthe.2020.09.017 | |||||||
| Mechanistic studies | Y | 32979164 | EVI1 oncoprotein expression and CtBP1-association oscillate through the cell cycle | Paredes R, Schneider M, Pearson S, Teng HY, Kelly JR, Pierce A, Somervaille TCP, Whetton AD, Meyer S. | Mol Biol Rep. 2020 Oct;47(10):8293-8300. doi: 10.1007/s11033-020-05829-1. Epub 2020 Sep 26. | Paredes R | Mol Biol Rep | 2020 | 26/09/2020 | PMC7588369 | 10.1007/s11033-020-05829-1 | |||||||
| Translational studies | Y | 33022222 | Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa | de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. | Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. | de Bruijn SE | Am J Hum Genet | 2020 | 06/10/2020 | PMC7675008 | 10.1016/j.ajhg.2020.09.002 | |||||||
| Phenotype expansion | Y | 33029936 | Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum | Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. | Am J Med Genet A. 2021 Jan;185(1):15-25. doi: 10.1002/ajmg.a.61907. Epub 2020 Oct 7. | Crow YJ | Am J Med Genet A | 2021 | 08/10/2020 | 10.1002/ajmg.a.61907 | ||||||||
| Mechanistic studies | Y | 33044555 | The NLRP3-inflammasome as a sensor of organelle dysfunction | Seoane PI, Lee B, Hoyle C, Yu S, Lopez-Castejon G, Lowe M, Brough D. | J Cell Biol. 2020 Dec 7;219(12):e202006194. doi: 10.1083/jcb.202006194. | Seoane PI | J Cell Biol | 2020 | 12/10/2020 | PMC7543090 | 10.1083/jcb.202006194 | |||||||
| Mechanistic studies | Y | 33084303 | Optogenetic Control of the BMP Signaling Pathway | Humphreys PA, Woods S, Smith CA, Bates N, Cain SA, Lucas R, Kimber SJ. | ACS Synth Biol. 2020 Nov 20;9(11):3067-3078. doi: 10.1021/acssynbio.0c00315. Epub 2020 Oct 21. | Humphreys PA | ACS Synth Biol | 2020 | 21/10/2020 | PMC7927147 | 10.1021/acssynbio.0c00315 | |||||||
| Disease gene discoveries | Y | 33102976 | Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome | Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. | Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. | Harkness JR | Kidney Int Rep | 2020 | 26/10/2020 | PMC7569699 | 10.1016/j.ekir.2020.07.001 | |||||||
| Phenotype expansion | Y | 33137351 | Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy | Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, Robson AG, Egan CA, Knight H, Calcagni A, Taylor RL, Lenassi E, Black GC, Moore AT, Michaelides M, Webster AR, Mahroo OA. | Ophthalmology. 2021 Jun;128(6):952-955. doi: 10.1016/j.ophtha.2020.10.032. Epub 2020 Nov 1. | Tanner A | Ophthalmology | 2021 | 02/11/2020 | PMC8162661 | 10.1016/j.ophtha.2020.10.032 | |||||||
| Phenotype expansion | Y | 33137882 | Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance | Ellingford JM, Hufnagel RB, Arno G. | Genes (Basel). 2020 Oct 29;11(11):1274. doi: 10.3390/genes11111274. | Ellingford JM | Genes (Basel) | 2020 | 03/11/2020 | PMC7692259 | 10.3390/genes11111274 | |||||||
| Mechanistic studies | Y | 33145969 | Bafilomycin A1 enhances NLRP3 inflammasome activation in human monocytes independent of lysosomal acidification | Yu S, Green J, Wellens R, Lopez-Castejon G, Brough D. | FEBS J. 2021 May;288(10):3186-3196. doi: 10.1111/febs.15619. Epub 2020 Nov 21. | Yu S | FEBS J | 2021 | 04/11/2020 | PMC8247003 | 10.1111/febs.15619 | |||||||
| Phenotype expansion | Y | 33149277 | New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics | Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. | Genet Med. 2021 Mar;23(3):543-554. doi: 10.1038/s41436-020-01011-x. Epub 2020 Nov 5. | Begemann A | Genet Med | 2021 | 05/11/2020 | PMC7935717 | 10.1038/s41436-020-01011-x | |||||||
| Translational studies | Y | 33185983 | The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study | Shoakazemi A, Hewitt A, Smith MJ, du Plessis D, Thomas O, Stivaros SM, Deniz K, Hammerbeck-Ward C, Rutherford SA, King AT, Evans DG. | Am J Med Genet A. 2021 Feb;185(2):561-565. doi: 10.1002/ajmg.a.61970. Epub 2020 Nov 13. | Shoakazemi A | Am J Med Genet A | 2021 | 13/11/2020 | 10.1002/ajmg.a.61970 | ||||||||
| Phenotype expansion | Y | 33200471 | Small molecules restore the function of mutant CLC5 associated with Dent disease | Liu J, Sadeh TT, Lippiat JD, Thakker RV, Black GC, Manson F. | J Cell Mol Med. 2021 Jan;25(2):1319-1322. doi: 10.1111/jcmm.16091. Epub 2020 Nov 16. | Liu J | J Cell Mol Med | 2021 | 17/11/2020 | PMC7812281 | 10.1111/jcmm.16091 | |||||||
| Mechanistic studies | Y | 33216713 | LRRC8A is essential for hypotonicity-, but not for DAMP-induced NLRP3 inflammasome activation | Green JP, Swanton T, Morris LV, El-Sharkawy LY, Cook J, Yu S, Beswick J, Adamson AD, Humphreys NE, Bryce R, Freeman S, Lawrence C, Brough D. | Elife. 2020 Nov 20;9:e59704. doi: 10.7554/eLife.59704. | Green JP | Elife | 2020 | 20/11/2020 | PMC7679132 | 10.7554/eLife.59704 | |||||||
| Translational studies | Y | 33219493 | Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome | Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, Baumhoer D, O'Sullivan J, Cheesman E, Schindler D, Meyer S. | Fam Cancer. 2022 Jan;21(1):85-90. doi: 10.1007/s10689-020-00221-1. Epub 2020 Nov 21. | Huson SM | Fam Cancer | 2022 | 21/11/2020 | PMC8799568 | 10.1007/s10689-020-00221-1 | |||||||
| Mechanistic studies | Y | 33230297 | cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing | Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. | Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. | Uggenti C | Nat Genet | 2020 | 24/11/2020 | 10.1038/s41588-020-00737-3 | ||||||||
| Phenotype expansion | Y | 33235754 | Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series | Worth C, Briggs TA, Padidela R, Balmer E, Skae M. | Clin Case Rep. 2020 Jul 23;8(11):2181-2185. doi: 10.1002/ccr3.3081. eCollection 2020 Nov. | Worth C | Clin Case Rep | 2020 | 25/11/2020 | PMC7669429 | 10.1002/ccr3.3081 | |||||||
| Mechanistic studies | Y | 33246156 | Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates | Abdel-Khalik J, Hearn T, Dickson AL, Crick PJ, Yutuc E, Austin-Muttitt K, Bigger BW, Morris AA, Shackleton CH, Clayton PT, Iida T, Sircar R, Rohatgi R, Marschall HU, Sjövall J, Björkhem I, Mullins JGL, Griffiths WJ, Wang Y. | J Steroid Biochem Mol Biol. 2021 Feb;206:105794. doi: 10.1016/j.jsbmb.2020.105794. Epub 2020 Nov 24. | Abdel-Khalik J | J Steroid Biochem Mol Biol | 2021 | 27/11/2020 | PMC7816163 | 10.1016/j.jsbmb.2020.105794 | |||||||
| Mechanistic studies | Y | 33252884 | JAK Inhibition in the Aicardi-Goutières Syndrome | Neven B, Al Adba B, Hully M, Desguerre I, Pressiat C, Boddaert N, Duffy D, Rice GI, Seabra L, Frémond ML, Blanche S, Crow YJ. | N Engl J Med. 2020 Nov 26;383(22):2190-2191. doi: 10.1056/NEJMc2031081. | Neven B | N Engl J Med | 2020 | 30/11/2020 | 10.1056/NEJMc2031081 | ||||||||
| Mechanistic studies | Y | 33252155 | New variants and in silico analyses in GRK1 associated Oguchi disease | Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium; De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. | Hum Mutat. 2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub 2020 Nov 30. | Poulter JA | Hum Mutat | 2021 | 30/11/2020 | PMC7898643 | 10.1002/humu.24140 | |||||||
| Phenotype expansion | Y | 33250374 | Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter | Rodríguez Cruz PM, Hughes I, Manzur A, Munot P, Ramdas S, Wright R, Breen C, Pitt M, Pagnamenta AT, Taylor JC, Palace J, Beeson D. | Neuromuscul Disord. 2021 Jan;31(1):21-28. doi: 10.1016/j.nmd.2020.10.006. Epub 2020 Oct 20. | Rodríguez Cruz PM | Neuromuscul Disord | 2021 | 30/11/2020 | 10.1016/j.nmd.2020.10.006 | ||||||||
| Mechanistic studies | Y | 33262459 | The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges | Fountain DM, Smith MJ, O'Leary C, Pathmanaban ON, Roncaroli F, Bobola N, King AT, Evans DG. | Oncogene. 2021 Feb;40(5):875-884. doi: 10.1038/s41388-020-01568-6. Epub 2020 Dec 1. | Fountain DM | Oncogene | 2021 | 02/12/2020 | PMC8440207 | 10.1038/s41388-020-01568-6 | |||||||
| Translational studies | Y | 33272618 | Developing a core outcome set for future infertility research: an international consensus development study | Duffy JMN, AlAhwany H, Bhattacharya S, Collura B, Curtis C, Evers JLH, Farquharson RG, Franik S, Giudice LC, Khalaf Y, Knijnenburg JML, Leeners B, Legro RS, Lensen S, Vazquez-Niebla JC, Mavrelos D, Mol BWJ, Niederberger C, Ng EHY, Otter AS, Puscasiu L, Rautakallio-Hokkanen S, Repping S, Sarris I, Simpson JL, Strandell A, Strawbridge C, Torrance HL, Vail A, van Wely M, Vercoe MA, Vuong NL, Wang AY, Wang R, Wilkinson J, Youssef MA, Farquhar CM; Core Outcome Measure for Infertility Trials (COMMIT) initiative. | Fertil Steril. 2021 Jan;115(1):191-200. doi: 10.1016/j.fertnstert.2020.11.012. Epub 2020 Nov 30. | Duffy JMN | Fertil Steril | 2021 | 04/12/2020 | 10.1016/j.fertnstert.2020.11.012 | ||||||||
| Phenotype expansion | Y | 33276707 | Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis | Spracklen TF, Kasher PR, Kraus S, Botha TL, Page DJ, Kamuli S, Booi Z, Chin A, Laing N, Keavney BD, Ntusi NAB, Shaboodien G. | Circ Genom Precis Med. 2021 Feb;14(1):e003138. doi: 10.1161/CIRCGEN.120.003138. Epub 2020 Dec 4. | Spracklen TF | Circ Genom Precis Med | 2021 | 05/12/2020 | 10.1161/CIRCGEN.120.003138 | ||||||||
| Mechanistic studies | Y | 33300245 | Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants | Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. | Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. | Fortuno C | Hum Mutat | 2021 | 10/12/2020 | PMC8374922 | NIHMS1727229 | 10.1002/humu.24152 | ||||||
| Mechanistic studies | Y | 33306987 | The miR-199a/214 Cluster Controls Nephrogenesis and Vascularization in a Human Embryonic Stem Cell Model | Bantounas I, Lopes FM, Rooney KM, Woolf AS, Kimber SJ. | Stem Cell Reports. 2021 Jan 12;16(1):134-148. doi: 10.1016/j.stemcr.2020.11.007. Epub 2020 Dec 10. | Bantounas I | Stem Cell Reports | 2021 | 11/12/2020 | PMC7897558 | 10.1016/j.stemcr.2020.11.007 | |||||||
| Phenotype expansion | Y | 33334373 | Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease | Donald A, Tan CY, Chakrapani A, Hughes DA, Sharma R, Cole D, Bardins S, Gorges M, Jones SA, Schneider E. | Orphanet J Rare Dis. 2020 Dec 17;15(1):349. doi: 10.1186/s13023-020-01637-9. | Donald A | Orphanet J Rare Dis | 2020 | 18/12/2020 | PMC7745364 | 10.1186/s13023-020-01637-9 | |||||||
| Letters/corrections | Y | Y | 33353976 | Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders | Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. | Genet Med. 2021 Oct;23(10):2023. doi: 10.1038/s41436-020-01068-8. | Lenassi E | Genet Med | 2021 | 23/12/2020 | PMC8586874 | 10.1038/s41436-020-01068-8 | ||||||
| Letters/corrections | Y | 33403474 | Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome | Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, Baumhoer D, O'Sullivan J, Cheesman E, Schindler D, Meyer S. | Fam Cancer. 2022 Jan;21(1):91. doi: 10.1007/s10689-020-00223-z. | Huson SM | Fam Cancer | 2022 | 06/01/2021 | PMC9172678 | 10.1007/s10689-020-00223-z | |||||||
| Mechanistic studies | Y | 33411153 | Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies | Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, Ellul P, Hadchouel A, Hentgen V, Hié M, Hully M, Jeziorski E, Lévy R, Mochel F, Orcesi S, Passemard S, Pouletty M, Quartier P, Renaldo F, Seidl R, Shetty J, Neven B, Blanche S, Duffy D, Crow YJ, Frémond ML. | J Clin Immunol. 2021 Apr;41(3):603-609. doi: 10.1007/s10875-020-00952-x. Epub 2021 Jan 7. | Lodi L | J Clin Immunol | 2021 | 07/01/2021 | 10.1007/s10875-020-00952-x | ||||||||
| Mechanistic studies | Y | 33434264 | The forkhead transcription factor FOXK2 premarks lineage-specific genes in human embryonic stem cells for activation during differentiation | Ji Z, Li Y, Liu SX, Sharrocks AD. | Nucleic Acids Res. 2021 Feb 22;49(3):1345-1363. doi: 10.1093/nar/gkaa1281. | Ji Z | Nucleic Acids Res | 2021 | 12/01/2021 | PMC7897486 | 10.1093/nar/gkaa1281 | |||||||
| Genetic counselling / PPIE | Y | 33438335 | A family systems approach to genetic counseling: Development of narrative interventions | MacLeod R, Metcalfe A, Ferrer-Duch M. | J Genet Couns. 2021 Feb;30(1):22-29. doi: 10.1002/jgc4.1377. Epub 2021 Jan 12. | MacLeod R | J Genet Couns | 2021 | 13/01/2021 | PMC7898613 | 10.1002/jgc4.1377 | |||||||
| Phenotype expansion | Y | 33437032 | Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype | Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T. | Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12. | Balasubramanian M | Eur J Hum Genet | 2021 | 13/01/2021 | PMC8115148 | 10.1038/s41431-020-00769-7 | |||||||
| Mechanistic studies | Y | 33493158 | Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network | Balarezo-Cisneros LN, Parker S, Fraczek MG, Timouma S, Wang P, O'Keefe RT, Millar CB, Delneri D. | PLoS Genet. 2021 Jan 25;17(1):e1008761. doi: 10.1371/journal.pgen.1008761. eCollection 2021 Jan. | Balarezo-Cisneros LN | PLoS Genet | 2021 | 25/01/2021 | PMC7886133 | 10.1371/journal.pgen.1008761 | |||||||
| Mechanistic studies | Y | 33513338 | Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction | den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study; Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. | Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. | den Hoed J | Am J Hum Genet | 2021 | 29/01/2021 | PMC7895900 | 10.1016/j.ajhg.2021.01.007 | |||||||
| Mechanistic studies | Y | 33519829 | Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy | Rutherford HA, Kasher PR, Hamilton N. | Front Immunol. 2021 Jan 15;11:623650. doi: 10.3389/fimmu.2020.623650. eCollection 2020. | Rutherford HA | Front Immunol | 2021 | 01/02/2021 | PMC7843416 | 10.3389/fimmu.2020.623650 | |||||||
| Phenotype expansion | Y | 33532948 | Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group | Frühwald MC, Nemes K, Boztug H, Cornips MCA, Evans DG, Farah R, Glentis S, Jorgensen M, Katsibardi K, Hirsch S, Jahnukainen K, Kventsel I, Kerl K, Kratz CP, Pajtler KW, Kordes U, Ridola V, Stutz E, Bourdeaut F. | Fam Cancer. 2021 Oct;20(4):305-316. doi: 10.1007/s10689-021-00229-1. Epub 2021 Feb 3. | Frühwald MC | Fam Cancer | 2021 | 03/02/2021 | PMC8484234 | 10.1007/s10689-021-00229-1 | |||||||
| Letters/corrections | Y | 33531501 | Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals | Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. | Nat Commun. 2021 Feb 2;12(1):839. doi: 10.1038/s41467-021-21052-3. | Whiffin N | Nat Commun | 2021 | 03/02/2021 | PMC7854672 | 10.1038/s41467-021-21052-3 | |||||||
| Mechanistic studies | Y | 33547280 | Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine | Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S. | Nat Commun. 2021 Feb 5;12(1):833. doi: 10.1038/s41467-021-21053-2. | Faundes V | Nat Commun | 2021 | 06/02/2021 | PMC7864902 | 10.1038/s41467-021-21053-2 | |||||||
| Disease gene discoveries | Y | 33558124 | Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy | Schirwani S, Sarkozy A, Phadke R, Childs AM, Mein R, Ismail A, Smith A, Muntoni F, Hobson E, Pysden K. | Neuromuscul Disord. 2021 Apr;31(4):359-366. doi: 10.1016/j.nmd.2020.09.033. Epub 2020 Oct 3. | Schirwani S | Neuromuscul Disord | 2021 | 09/02/2021 | 10.1016/j.nmd.2020.09.033 | ||||||||
| Translational studies | Y | 33584831 | A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment | Sadeh TT, Black GC, Manson F. | Front Genet. 2021 Jan 28;12:637780. doi: 10.3389/fgene.2021.637780. eCollection 2021. | Sadeh TT | Front Genet | 2021 | 15/02/2021 | PMC7876387 | 10.3389/fgene.2021.637780 | |||||||
| Translational studies | Y | 33584830 | The Role of the U5 snRNP in Genetic Disorders and Cancer | Wood KA, Eadsforth MA, Newman WG, O'Keefe RT. | Front Genet. 2021 Jan 28;12:636620. doi: 10.3389/fgene.2021.636620. eCollection 2021. | Wood KA | Front Genet | 2021 | 15/02/2021 | PMC7876476 | 10.3389/fgene.2021.636620 | |||||||
| Disease gene discoveries | Y | 33596411 | SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females | Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, et al. | Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. | Radio FC | Am J Hum Genet | 2021 | 17/02/2021 | PMC8008487 | 10.1016/j.ajhg.2021.01.015 | |||||||
| Disease gene discoveries | Y | 33603162 | ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy | Hyder Z, Van Paesschen W, Sabir A, Sansbury FH, Burke KB, Khan N, Chandler KE, Cooper NS, Wright R, McHale E, Van Esch H, Banka S. | Eur J Hum Genet. 2021 Sep;29(9):1377-1383. doi: 10.1038/s41431-021-00815-y. Epub 2021 Feb 18. | Hyder Z | Eur J Hum Genet | 2021 | 19/02/2021 | PMC8440581 | 10.1038/s41431-021-00815-y | |||||||
| Disease gene discoveries | Y | 33617649 | Comment on: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM | Smith MJ, Pathmanaban ON, Coope DJ, King AT, Evans DG. | J Neuropathol Exp Neurol. 2021 Feb 22;80(3):289-290. doi: 10.1093/jnen/nlaa105. | Smith MJ | J Neuropathol Exp Neurol | 2021 | 22/02/2021 | 10.1093/jnen/nlaa105 | ||||||||
| Phenotype expansion | Y | 33630210 | Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification | Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ; Myhre Syndrome Foundation Professional Advisory Board. | Geroscience. 2021 Apr;43(2):459-461. doi: 10.1007/s11357-021-00337-x. Epub 2021 Feb 25. | Lin AE | Geroscience | 2021 | 25/02/2021 | PMC8110621 | 10.1007/s11357-021-00337-x | |||||||
| Translational studies | Y | 33654310 | Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives | Bennett S, Alexander E, Fraser H, Bowers N, Wallace A, Woodward ER, Lalloo F, Quinn AM, Huang S, Schlecht H, Evans DG. | Eur J Hum Genet. 2021 May;29(5):861-871. doi: 10.1038/s41431-021-00817-w. Epub 2021 Mar 2. | Bennett S | Eur J Hum Genet | 2021 | 03/03/2021 | PMC8110779 | 10.1038/s41431-021-00817-w | |||||||
| Phenotype expansion | Y | 33674768 | Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 | Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. | Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. | Faundes V | Genet Med | 2021 | 06/03/2021 | PMC8257478 | 10.1038/s41436-021-01119-8 | |||||||
| Translational studies | Y | 33668991 | The Nutraceutical N-Palmitoylethanolamide (PEA) Reveals Widespread Molecular Effects Unmasking New Therapeutic Targets in Murine Varicocele | Antonuccio P, Marini HR, Micali A, Romeo C, Granese R, Retto A, Martino A, Benvenga S, Cuzzocrea S, Impellizzeri D, Di Paola R, Fusco R, Cervellione RM, Minutoli L. | Nutrients. 2021 Feb 25;13(3):734. doi: 10.3390/nu13030734. | Antonuccio P | Nutrients | 2021 | 06/03/2021 | PMC7996616 | 10.3390/nu13030734 | |||||||
| Phenotype expansion | Y | 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes | Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. | J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26. | Alsharhan H | J Inherit Metab Dis | 2021 | 18/03/2021 | PMC8720508 | NIHMS1763418 | 10.1002/jimd.12378 | ||||||
| Translational studies | Y | 33730931 | Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease | Pokhilko A, Brezzo G, Handunnetthi L, Heilig R, Lennon R, Smith C, Allan SM, Granata A, Sinha S, Wang T, Markus HS, Naba A, Fischer R, Van Agtmael T, Horsburgh K, Cader MZ. | J Cereb Blood Flow Metab. 2021 Sep;41(9):2423-2438. doi: 10.1177/0271678X211004307. Epub 2021 Mar 17. | Pokhilko A | J Cereb Blood Flow Metab | 2021 | 18/03/2021 | PMC8392779 | 10.1177/0271678X211004307 | |||||||
| Translational studies | Y | 33743481 | Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report | Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P. | Eur J Cancer. 2021 May;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub 2021 Mar 17. | Seppälä TT | Eur J Cancer | 2021 | 20/03/2021 | PMC8916840 | NIHMS1781077 | 10.1016/j.ejca.2021.02.022 | ||||||
| Translational studies | Y | 33743793 | The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement | Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. | Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. | Black GC | Orphanet J Rare Dis | 2021 | 21/03/2021 | PMC7980559 | 10.1186/s13023-021-01756-x | |||||||
| Letters/corrections | Y | 33751320 | Correction to: Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer | Ripperger T, Evans DG, Malkin D, Kratz CP. | Fam Cancer. 2021 Oct;20(4):293. doi: 10.1007/s10689-021-00238-0. | Ripperger T | Fam Cancer | 2021 | 22/03/2021 | PMC8587274 | 10.1007/s10689-021-00238-0 | |||||||
| Translational studies | Y | 33766936 | Improving the clinical interpretation of missense variants in X linked genes using structural analysis | Sallah SR, Ellingford JM, Sergouniotis PI, Ramsden SC, Lench N, Lovell SC, Black GC. | J Med Genet. 2022 Apr;59(4):385-392. doi: 10.1136/jmedgenet-2020-107404. Epub 2021 Mar 25. | Sallah SR | J Med Genet | 2022 | 26/03/2021 | PMC8961765 | 10.1136/jmedgenet-2020-107404 | |||||||
| Mechanistic studies | Y | 33774632 | Towards Modelling Genetic Kidney Diseases with Human Pluripotent Stem Cells | Rooney KM, Woolf AS, Kimber SJ. | Nephron. 2021;145(3):285-296. doi: 10.1159/000514018. Epub 2021 Mar 26. | Rooney KM | Nephron | 2021 | 28/03/2021 | 10.1159/000514018 | ||||||||
| Mechanistic studies | Y | 33805168 | Regulation of TGFβ Signalling by TRPV4 in Chondrocytes | Woods S, Humphreys PA, Bates N, Richardson SA, Kuba SY, Brooks IR, Cain SA, Kimber SJ. | Cells. 2021 Mar 24;10(4):726. doi: 10.3390/cells10040726. | Woods S | Cells | 2021 | 03/04/2021 | PMC8064313 | 10.3390/cells10040726 | |||||||
| Mechanistic studies | Y | 33801002 | A Novel Coupled Reaction-Diffusion System for Explainable Gene Expression Profiling | Farouq MW, Boulila W, Hussain Z, Rashid A, Shah M, Hussain S, Ng N, Ng D, Hanif H, Shaikh MG, Sheikh A, Hussain A. | Sensors (Basel). 2021 Mar 21;21(6):2190. doi: 10.3390/s21062190. | Farouq MW | Sensors (Basel) | 2021 | 03/04/2021 | PMC8003942 | 10.3390/s21062190 | |||||||
| Translational studies | Y | 33821793 | Identification of human glucocorticoid response markers using integrated multi-omic analysis from a randomized crossover trial | Chantzichristos D, Svensson PA, Garner T, Glad CA, Walker BR, Bergthorsdottir R, Ragnarsson O, Trimpou P, Stimson RH, Borresen SW, Feldt-Rasmussen U, Jansson PA, Skrtic S, Stevens A, Johannsson G. | Elife. 2021 Apr 6;10:e62236. doi: 10.7554/eLife.62236. | Chantzichristos D | Elife | 2021 | 06/04/2021 | PMC8024021 | 10.7554/eLife.62236 | |||||||
| Phenotype expansion | Y | 33831796 | Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study | Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. | Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. | Raviglione F | Seizure | 2021 | 08/04/2021 | 10.1016/j.seizure.2021.03.025 | ||||||||
| Mechanistic studies | Y | 33827648 | Response to correspondence on "Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation" | Gurumurthy CB, O'Brien AR, Quadros RM, Adams J Jr, Alcaide P, Ayabe S, Ballard J, Batra SK, Beauchamp MC, Becker KA, Bernas G, Brough D, Carrillo-Salinas F, Chan W, Chen H, Dawson R, DeMambro V, D'Hont J, Dibb K, Eudy JD, Gan L, Gao J, Gonzales A, Guntur A, Guo H, Harms DW, Harrington A, Hentges KE, Humphreys N, Imai S, Ishii H, Iwama M, Jonasch E, Karolak M, Keavney B, Khin NC, Konno M, Kotani Y, Kunihiro Y, Lakshmanan I, Larochelle C, Lawrence CB, Li L, Lindner V, Liu XD, Lopez-Castejon G, Loudon A, Lowe J, Jerome-Majeweska L, Matsusaka T, Miura H, Miyasaka Y, Morpurgo B, Motyl K, Nabeshima YI, Nakade K, Nakashiba T, Nakashima K, Obata Y, Ogiwara S, Ouellet M, Oxburgh L, Piltz S, Pinz I, Ponnusamy MP, Ray D, Redder RJ, Rosen CJ, Ross N, Ruhe MT, Ryzhova L, Salvador AM, Alam SS, Sedlacek R, Sharma K, Smith C, Staes K, Starrs L, Sugiyama F, Takahashi S, Tanaka T, Trafford A, Uno Y, Vanhoutte L, Vanrockeghem F, Willis BJ, Wright CS, Yamauchi Y, Yi X, Yoshimi K, Zhang X, Zhang Y, Ohtsuka M, Das S, Garry DJ, Hochepied T, Thomas P, Parker-Thornburg J, Adamson AD, Yoshiki A, et al. | Genome Biol. 2021 Apr 7;22(1):99. doi: 10.1186/s13059-021-02320-3. | Gurumurthy CB | Genome Biol | 2021 | 08/04/2021 | PMC8025318 | 10.1186/s13059-021-02320-3 | |||||||
| Translational studies | Y | 33849931 | Could This Be Alport Syndrome? | Lennon R, Fornoni A. | Clin J Am Soc Nephrol. 2021 Nov;16(11):1743-1745. doi: 10.2215/CJN.00120121. Epub 2021 Apr 13. | Lennon R | Clin J Am Soc Nephrol | 2021 | 14/04/2021 | PMC8729414 | 10.2215/CJN.00120121 | |||||||
| Translational studies | Y | 33854215 | Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. | Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. | Savige J | Eur J Hum Genet | 2021 | 15/04/2021 | PMC8384871 | 10.1038/s41431-021-00858-1 | |||||||
| Translational studies | Y | 33860896 | Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG) | Guerrini-Rousseau L, Smith MJ, Kratz CP, Doergeloh B, Hirsch S, Hopman SMJ, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador H, Waespe N, Claret B, Brugieres L, Evans DG. | Fam Cancer. 2021 Oct;20(4):317-325. doi: 10.1007/s10689-021-00247-z. Epub 2021 Apr 16. | Guerrini-Rousseau L | Fam Cancer | 2021 | 16/04/2021 | PMC8484213 | 10.1007/s10689-021-00247-z | |||||||
| Clinical trials | Y | 33875845 | One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency | Diaz GA, Jones SA, Scarpa M, Mengel KE, Giugliani R, Guffon N, Batsu I, Fraser PA, Li J, Zhang Q, Ortemann-Renon C. | Genet Med. 2021 Aug;23(8):1543-1550. doi: 10.1038/s41436-021-01156-3. Epub 2021 Apr 19. | Diaz GA | Genet Med | 2021 | 20/04/2021 | PMC8354848 | 10.1038/s41436-021-01156-3 | |||||||
| Phenotype expansion | Y | 33880529 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria | Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. | Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. | Vetro A | Brain | 2021 | 21/04/2021 | 10.1093/brain/awab052 | ||||||||
| Translational studies | Y | 33879512 | Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders | Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. | J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. | Molina-Ramírez LP | J Med Genet | 2022 | 21/04/2021 | PMC8961756 | 10.1136/jmedgenet-2020-107303 | |||||||
| Phenotype expansion | Y | 33895632 | Differential early subcortical involvement in genetic FTD within the GENFI cohort | Bocchetta M, Todd EG, Peakman G, Cash DM, Convery RS, Russell LL, Thomas DL, Eugenio Iglesias J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI). | Neuroimage Clin. 2021;30:102646. doi: 10.1016/j.nicl.2021.102646. Epub 2021 Mar 29. | Bocchetta M | Neuroimage Clin | 2021 | 25/04/2021 | PMC8099608 | 10.1016/j.nicl.2021.102646 | |||||||
| Mechanistic studies | Y | 33905048 | TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia | Al Sheikh E, Arkwright PD, Herwadkar A, Hussell T, Briggs TA. | J Clin Immunol. 2021 Aug;41(6):1391-1394. doi: 10.1007/s10875-021-01049-9. Epub 2021 Apr 27. | Al Sheikh E | J Clin Immunol | 2021 | 27/04/2021 | 10.1007/s10875-021-01049-9 | ||||||||
| Phenotype expansion | Y | 33909992 | Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism | Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. | Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. | Chopra M | Am J Hum Genet | 2021 | 28/04/2021 | PMC8206162 | 10.1016/j.ajhg.2021.04.007 | |||||||
| Phenotype expansion | Y | 33910932 | BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa | Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. | J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. | Fadaie Z | J Med Genet | 2022 | 29/04/2021 | 10.1136/jmedgenet-2020-107626 | ||||||||
| Mechanistic studies | Y | 33941444 | Differential levels of IFNα subtypes in autoimmunity and viral infection | Bondet V, Rodero MP, Posseme C, Bost P, Decalf J, Haljasmägi L, Bekaddour N, Rice GI, Upasani V, Herbeuval JP, Reynolds JA, Briggs TA, Bruce IN, Mauri C, Isenberg D, Menon M, Hunt D, Schwikowski B, Mariette X, Pol S, Rozenberg F, Cantaert T, Eric Gottenberg J, Kisand K, Duffy D. | Cytokine. 2021 Aug;144:155533. doi: 10.1016/j.cyto.2021.155533. Epub 2021 Apr 30. | Bondet V | Cytokine | 2021 | 04/05/2021 | PMC7614897 | EMS182765 | 10.1016/j.cyto.2021.155533 | ||||||
| Phenotype expansion | Y | 33957466 | High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency | Ellingford JM, Telford N, Urquhart J, Will AM, Bonney D, Adams B, Dixon R, Kerr B, Black GC, Wynn RF, Meyer S. | Cancer Genet. 2021 Aug;256-257:77-80. doi: 10.1016/j.cancergen.2021.04.002. Epub 2021 Apr 23. | Ellingford JM | Cancer Genet | 2021 | 06/05/2021 | 10.1016/j.cancergen.2021.04.002 | ||||||||
| Phenotype expansion | Y | 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy | Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. | Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. | Voisin N | Am J Hum Genet | 2021 | 07/05/2021 | PMC8206167 | 10.1016/j.ajhg.2021.04.001 | |||||||
| Mechanistic studies | Y | 33958779 | Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney | Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C, Guo H, Wystrychowski W, Szulinska M, Thomas HB, Pramanik S, Chopade S, Prestes PR, Wise I, Evangelou E, Salehi M, Shakanti Y, Ekholm M, Denniff M, Nazgiewicz A, Eichinger F, Godfrey B, Antczak A, Glyda M, Król R, Eyre S, Brown J, Berzuini C, Bowes J, Caulfield M, Zukowska-Szczechowska E, Zywiec J, Bogdanski P, Kretzler M, Woolf AS, Talavera D, Keavney B, Maffia P, Guzik TJ, O'Keefe RT, Trynka G, Samani NJ, Hingorani A, Sampson MG, Morris AP, Charchar FJ, Tomaszewski M. | Nat Genet. 2021 May;53(5):630-637. doi: 10.1038/s41588-021-00835-w. Epub 2021 May 6. | Eales JM | Nat Genet | 2021 | 07/05/2021 | 10.1038/s41588-021-00835-w | ||||||||
| Letters/corrections | Y | 33964978 | Correction to: Transcriptome-wide study of TNF-inhibitor therapy in rheumatoid arthritis reveals early signature of successful treatment | Oliver J, Nair N, Orozco G, Smith S, Hyrich KL, Morgan A, Isaacs J, Wilson AG; BRAGGSS; Barton A, Plant D. | Arthritis Res Ther. 2021 May 8;23(1):139. doi: 10.1186/s13075-021-02519-6. | Oliver J | Arthritis Res Ther | 2021 | 09/05/2021 | PMC8106162 | 10.1186/s13075-021-02519-6 | |||||||
| Phenotype expansion | Y | 33991472 | Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome | Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B. | Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14. | Pottie L | Am J Hum Genet | 2021 | 15/05/2021 | PMC8206382 | 10.1016/j.ajhg.2021.04.016 | |||||||
| Letters/corrections | Y | 33990587 | Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers | Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, et al. | Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4. | Coignard J | Nat Commun | 2021 | 15/05/2021 | PMC8121813 | 10.1038/s41467-021-23162-4 | |||||||
| Mechanistic studies | Y | 33991581 | Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity | Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. | J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. | Haimel M | J Allergy Clin Immunol | 2022 | 15/05/2021 | PMC9346194 | NIHMS1823355 | 10.1016/j.jaci.2021.04.033 | ||||||
| Mechanistic studies | Y | 34022131 | Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms | Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, Karczewski KJ, Morales J, Gallone G, Balasubramanian M, Banka S, Gompertz L, Kerr B, Kirby A, Lynch SA, Morton JEV, Pinz H, Sansbury FH, Stewart H, Zuccarelli BD; Genomics England Research Consortium; Cook SA, Taylor JC, Juusola J, Retterer K, Firth HV, Hurles ME, Lara-Pezzi E, Barton PJR, Whiffin N. | Am J Hum Genet. 2021 Jun 3;108(6):1083-1094. doi: 10.1016/j.ajhg.2021.04.025. Epub 2021 May 21. | Wright CF | Am J Hum Genet | 2021 | 22/05/2021 | PMC8206381 | 10.1016/j.ajhg.2021.04.025 | |||||||
| Mechanistic studies | Y | 34022130 | Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder | Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. | Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. | Hengel H | Am J Hum Genet | 2021 | 22/05/2021 | PMC8206390 | 10.1016/j.ajhg.2021.04.024 | |||||||
| Phenotype expansion | Y | 34020708 | Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders | Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. | Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. | Mannucci I | Genome Med | 2021 | 22/05/2021 | PMC8140440 | 10.1186/s13073-021-00900-3 | |||||||
| Clinical trials | Y | 34020687 | Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease | Potter JE, Petts G, Ghosh A, White FJ, Kinsella JL, Hughes S, Roberts J, Hodgkinson A, Brammeier K, Church H, Merrigan C, Hughes J, Evans P, Campbell H, Bonney D, Newman WG, Bigger BW, Broomfield A, Jones SA, Wynn RF. | Orphanet J Rare Dis. 2021 May 21;16(1):235. doi: 10.1186/s13023-021-01849-7. | Potter JE | Orphanet J Rare Dis | 2021 | 22/05/2021 | PMC8139039 | 10.1186/s13023-021-01849-7 | |||||||
| Translational studies | Y | 34032273 | Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype | McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. | Clin Pharmacol Ther. 2022 Feb;111(2):366-372. doi: 10.1002/cpt.2309. Epub 2021 Jun 20. | McDermott JH | Clin Pharmacol Ther | 2022 | 25/05/2021 | PMC8613315 | NIHMS1752666 | 10.1002/cpt.2309 | ||||||
| Clinical trials | Y | 34047372 | High dose genistein in Sanfilippo syndrome: A randomised controlled trial | Ghosh A, Rust S, Langford-Smith K, Weisberg D, Canal M, Breen C, Hepburn M, Tylee K, Vaz FM, Vail A, Wijburg F, O'Leary C, Parker H, Wraith JE, Bigger BW, Jones SA. | J Inherit Metab Dis. 2021 Sep;44(5):1248-1262. doi: 10.1002/jimd.12407. Epub 2021 Jun 13. | Ghosh A | J Inherit Metab Dis | 2021 | 28/05/2021 | 10.1002/jimd.12407 | ||||||||
| Translational studies | Y | 34045667 | Gene expression signatures predict response to therapy with growth hormone | Stevens A, Murray P, De Leonibus C, Garner T, Koledova E, Ambler G, Kapelari K, Binder G, Maghnie M, Zucchini S, Bashnina E, Skorodok J, Yeste D, Belgorosky A, Siguero JL, Coutant R, Vangsøy-Hansen E, Hagenäs L, Dahlgren J, Deal C, Chatelain P, Clayton P. | Pharmacogenomics J. 2021 Oct;21(5):594-607. doi: 10.1038/s41397-021-00237-5. Epub 2021 May 27. | Stevens A | Pharmacogenomics J | 2021 | 28/05/2021 | PMC8455334 | 10.1038/s41397-021-00237-5 | |||||||
| Mechanistic studies | Y | 34045313 | Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model | Takemon Y, Wright V, Davenport B, Gatti DM, Sheehan SM, Letson K, Savage HS, Lennon R, Korstanje R. | J Am Soc Nephrol. 2021 Aug;32(8):1961-1973. doi: 10.1681/ASN.2020060777. Epub 2021 May 27. | Takemon Y | J Am Soc Nephrol | 2021 | 28/05/2021 | PMC8455275 | 10.1681/ASN.2020060777 | |||||||
| Phenotype expansion | Y | 34061450 | Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype | Jackson A, Banka S, Stewart H; Genomics England Research Consortium; Robinson H, Lovell S, Clayton-Smith J. | Am J Med Genet A. 2021 Oct;185(10):3083-3091. doi: 10.1002/ajmg.a.62370. Epub 2021 Jun 1. | Jackson A | Am J Med Genet A | 2021 | 01/06/2021 | 10.1002/ajmg.a.62370 | ||||||||
| Translational studies | Y | 34060618 | The role of splicing factors in retinitis pigmentosa: links to cilia | Maxwell DW, O'Keefe RT, Roy S, Hentges KE. | Biochem Soc Trans. 2021 Jun 30;49(3):1221-1231. doi: 10.1042/BST20200798. | Maxwell DW | Biochem Soc Trans | 2021 | 01/06/2021 | 10.1042/BST20200798 | ||||||||
| Clinical trials | Y | 34111452 | Therapeutic options for CTLA-4 insufficiency | Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. | J Allergy Clin Immunol. 2022 Feb;149(2):736-746. doi: 10.1016/j.jaci.2021.04.039. Epub 2021 Jun 7. | Egg D | J Allergy Clin Immunol | 2022 | 10/06/2021 | 10.1016/j.jaci.2021.04.039 | ||||||||
| Phenotype expansion | Y | 34113008 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity | Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. | Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. | Thomas Q | Genet Med | 2021 | 11/06/2021 | 10.1038/s41436-021-01218-6 | ||||||||
| Phenotype expansion | Y | 34125159 | North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants | Green DJ, Lenassi E, Manning CS, McGaughey D, Sharma V, Black GC, Ellingford JM, Sergouniotis PI. | Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):16. doi: 10.1167/iovs.62.7.16. | Green DJ | Invest Ophthalmol Vis Sci | 2021 | 14/06/2021 | PMC8212441 | 10.1167/iovs.62.7.16 | |||||||
| Clinical trials | Y | 34135034 | Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial | McDermott JH, Mahood R, Stoddard D, Mahaveer A, Turner MA, Corry R, Garlick J, Miele G, Ainsworth S, Kemp L, Bruce I, Body R, Ulph F, Macleod R, Harvey K, Booth N, Roberts P, Wilson P, Newman WG. | BMJ Open. 2021 Jun 16;11(6):e044457. doi: 10.1136/bmjopen-2020-044457. | McDermott JH | BMJ Open | 2021 | 17/06/2021 | PMC8211036 | 10.1136/bmjopen-2020-044457 | |||||||
| Mechanistic studies | Y | 34165081 | Matriptase activation of Gq drives epithelial disruption and inflammation via RSK and DUOX | Ma J, Scott CA, Ho YN, Mahabaleshwar H, Marsay KS, Zhang C, Teow CK, Ng SS, Zhang W, Tergaonkar V, Partridge LJ, Roy S, Amaya E, Carney TJ. | Elife. 2021 Jun 24;10:e66596. doi: 10.7554/eLife.66596. | Ma J | Elife | 2021 | 24/06/2021 | PMC8291973 | 10.7554/eLife.66596 | |||||||
| Translational studies | Y | 34171171 | The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience | Molina-Ramírez LP, Burkitt-Wright EM, Saeed H, McDermott JH, Kyle C, Wright R, Campbell C, Bhaskar SS, Taylor A, Dutton L, Forde C, Metcalfe K, Smith A, Clayton-Smith J, Douzgou S, Chandler K, Briggs TA, Banka S, Newman WG, Gokhale D, Bruce IA, Black GC. | Clin Otolaryngol. 2021 Nov;46(6):1257-1262. doi: 10.1111/coa.13826. Epub 2021 Jul 5. | Molina-Ramírez LP | Clin Otolaryngol | 2021 | 25/06/2021 | 10.1111/coa.13826 | ||||||||
| Phenotype expansion | Y | 34170463 | PTCH2 is not a strong candidate gene for gorlin syndrome predisposition | Smith MJ, Evans DG. | Fam Cancer. 2022 Jul;21(3):343-346. doi: 10.1007/s10689-021-00269-7. Epub 2021 Jun 25. | Smith MJ | Fam Cancer | 2022 | 25/06/2021 | PMC9203365 | 10.1007/s10689-021-00269-7 | |||||||
| Phenotype expansion | Y | 34183371 | Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency | Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. | J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. | Le Voyer T | J Immunol | 2021 | 29/06/2021 | PMC8702442 | NIHMS1701824 | 10.4049/jimmunol.2001451 | ||||||
| Mechanistic studies | Y | 34188131 | Overlapping regions of Caf20 mediate its interactions with the mRNA-5'cap-binding protein eIF4E and with ribosomes | Nwokoye EC, AlNaseem E, Crawford RA, Castelli LM, Jennings MD, Kershaw CJ, Pavitt GD. | Sci Rep. 2021 Jun 29;11(1):13467. doi: 10.1038/s41598-021-92931-4. | Nwokoye EC | Sci Rep | 2021 | 30/06/2021 | PMC8242001 | 10.1038/s41598-021-92931-4 | |||||||
| Phenotype expansion | Y | 34190021 | Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males | Batiha O, Burghel GJ, Alkofahi A, Alsharu E, Smith H, Alobaidi B, Al-Smadi M, Awamlah N, Hussein L, Abdelnour A, Sheth H, Veltman J. | Hum Fertil (Camb). 2022 Dec;25(5):939-946. doi: 10.1080/14647273.2021.1946173. Epub 2021 Jun 30. | Batiha O | Hum Fertil (Camb) | 2022 | 30/06/2021 | PMC7614817 | EMS181577 | 10.1080/14647273.2021.1946173 | ||||||
| Mechanistic studies | Y | 34230640 | Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes | Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. | Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6. | Cubuk C | Genet Med | 2021 | 07/07/2021 | PMC8553612 | 10.1038/s41436-021-01265-z | |||||||
| Phenotype expansion | Y | 34230207 | Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use | Bettegowda C, Upadhayaya M, Evans DG, Kim A, Mathios D, Hanemann CO; REiNS International Collaboration. | Neurology. 2021 Aug 17;97(7 Suppl 1):S91-S98. doi: 10.1212/WNL.0000000000012436. Epub 2021 Jul 6. | Bettegowda C | Neurology | 2021 | 07/07/2021 | PMC8594005 | 10.1212/WNL.0000000000012436 | |||||||
| Phenotype expansion | Y | 34229967 | Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma | Ramaswami U, Mengel E, Berrah A, AlSayed M, Broomfield A, Donald A, Seif El Dein HM, Freisens S, Hwu WL, Peterschmitt MJ, Yoo HW, Abdelwahab M. | Mol Genet Metab. 2021 Aug;133(4):335-344. doi: 10.1016/j.ymgme.2021.06.009. Epub 2021 Jun 25. | Ramaswami U | Mol Genet Metab | 2021 | 07/07/2021 | 10.1016/j.ymgme.2021.06.009 | ||||||||
| Clinical trials | Y | Y | 34237445 | Lessons learned from drug trials in neurofibromatosis: A systematic review | Dhaenens BAE, Ferner RE, Evans DG, Heimann G, Potratz C, van de Ketterij E, Kaindl AM, Hissink G, Carton C, Bakker A, Nievo M, Legius E, Oostenbrink R. | Eur J Med Genet. 2021 Sep;64(9):104281. doi: 10.1016/j.ejmg.2021.104281. Epub 2021 Jul 5. | Dhaenens BAE | Eur J Med Genet | 2021 | 08/07/2021 | 10.1016/j.ejmg.2021.104281 | |||||||
| Translational studies | Y | 34240408 | A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement | Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. | Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. | Douzgou S | Clin Genet | 2022 | 09/07/2021 | PMC8664971 | NIHMS1722154 | 10.1111/cge.14027 | ||||||
| Phenotype expansion | Y | 34244665 | Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies | Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. | Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. | Iqbal M | Genet Med | 2021 | 10/07/2021 | PMC8553613 | 10.1038/s41436-021-01260-4 | |||||||
| Mechanistic studies | Y | 34273022 | Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment | Park MH, Kar RK, Banka S, Ziegler A, Chung WK. | Amino Acids. 2022 Apr;54(4):485-499. doi: 10.1007/s00726-021-03023-6. Epub 2021 Jul 17. | Park MH | Amino Acids | 2022 | 17/07/2021 | PMC9117371 | 10.1007/s00726-021-03023-6 | |||||||
| Translational studies | Y | 34312114 | Envisioning treating genetically-defined urinary tract malformations with viral vector-mediated gene therapy | Lopes FM, Woolf AS, Roberts NA. | J Pediatr Urol. 2021 Oct;17(5):610-620. doi: 10.1016/j.jpurol.2021.07.002. Epub 2021 Jul 7. | Lopes FM | J Pediatr Urol | 2021 | 27/07/2021 | 10.1016/j.jpurol.2021.07.002 | ||||||||
| Phenotype expansion | Y | 34338890 | New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder | Faridi R, Rea A, Fenollar-Ferrer C, O'Keefe RT, Gu S, Munir Z, Khan AA, Riazuddin S, Hoa M, Naz S, Newman WG, Friedman TB. | Hum Genet. 2022 Apr;141(3-4):805-819. doi: 10.1007/s00439-021-02319-7. Epub 2021 Aug 2. | Faridi R | Hum Genet | 2022 | 02/08/2021 | 10.1007/s00439-021-02319-7 | ||||||||
| Phenotype expansion | Y | 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome | Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. | Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. | Weerts MJA | Genet Med | 2021 | 04/08/2021 | PMC8553606 | EMS133143 | 10.1038/s41436-021-01246-2 | ||||||
| Mechanistic studies | Y | 34387651 | Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A | Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. | J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. | Lepelley A | J Exp Med | 2021 | 13/08/2021 | PMC8374862 | 10.1084/jem.20201560 | |||||||
| Translational studies | Y | 34385668 | Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study | Luu M, Vabres P, Devilliers H, Loffroy R, Phan A, Martin L, Morice-Picard F, Petit F, Willems M, Bessis D, Jacquemont ML, Maruani A, Chiaverini C, Mirault T, Clayton-Smith J, Carpentier M, Fleck C, Maurer A, Yousfi M, Parker VER, Semple RK, Bardou M, Faivre L. | Genet Med. 2021 Dec;23(12):2433-2442. doi: 10.1038/s41436-021-01290-y. Epub 2021 Aug 12. | Luu M | Genet Med | 2021 | 13/08/2021 | PMC8631579 | 10.1038/s41436-021-01290-y | |||||||
| Disease gene discoveries | Y | 34423300 | Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome | Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium; Boltshauser E, Sayer JA. | Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. | Powell L | Brain Commun | 2021 | 23/08/2021 | PMC8374969 | 10.1093/braincomms/fcab163 | |||||||
| Mechanistic studies | Y | 34440323 | The Genomic Architecture of Bladder Exstrophy Epispadias Complex | Beaman GM, Cervellione RM, Keene D, Reutter H, Newman WG. | Genes (Basel). 2021 Jul 28;12(8):1149. doi: 10.3390/genes12081149. | Beaman GM | Genes (Basel) | 2021 | 27/08/2021 | PMC8391660 | 10.3390/genes12081149 | |||||||
| Translational studies | Y | 34452966 | Process evaluation of co-designed interventions to improve communication of positive newborn bloodspot screening results | Chudleigh J, Holder P, Moody L, Simpson A, Southern K, Morris S, Fusco F, Ulph F, Bryon M, Bonham JR, Olander E. | BMJ Open. 2021 Aug 27;11(8):e050773. doi: 10.1136/bmjopen-2021-050773. | Chudleigh J | BMJ Open | 2021 | 28/08/2021 | PMC8404436 | 10.1136/bmjopen-2021-050773 | |||||||
| Phenotype expansion | Y | 34478843 | Expanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome | Ng JKY, Sadia R, Ram D, Jones EA, Biswas S. | J AAPOS. 2021 Dec;25(6):364-366. doi: 10.1016/j.jaapos.2021.07.002. Epub 2021 Aug 31. | Ng JKY | J AAPOS | 2021 | 03/09/2021 | 10.1016/j.jaapos.2021.07.002 | ||||||||
| Disease gene discoveries | Y | 34497033 | Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency | Demain LAM, Boetje E, Edgerley JJ, Miles E, Fitzgerald CT, Busby G, Beaman GM, O'Sullivan J, O'Keefe RT, Newman WG. | Reprod Biomed Online. 2021 Nov;43(5):899-902. doi: 10.1016/j.rbmo.2021.07.003. Epub 2021 Jul 16. | Demain LAM | Reprod Biomed Online | 2021 | 09/09/2021 | 10.1016/j.rbmo.2021.07.003 | ||||||||
| Translational studies | Y | 34539735 | The Role of the European Society of Human Genetics in Delivering Genomic Education | Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG. | Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021. | Tobias ES | Front Genet | 2021 | 20/09/2021 | PMC8446627 | 10.3389/fgene.2021.693952 | |||||||
| Disease gene discoveries | Y | 34565340 | LAMA2 and LOXL4 are candidate FSGS genes | Vijayan P, Hack S, Yao T, Qureshi MA, Paterson AD, John R, Davenport B, Lennon R, Pei Y, Barua M. | BMC Nephrol. 2021 Sep 26;22(1):320. doi: 10.1186/s12882-021-02524-6. | Vijayan P | BMC Nephrol | 2021 | 27/09/2021 | PMC8474709 | 10.1186/s12882-021-02524-6 | |||||||
| Phenotype expansion | Y | 34573396 | Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease | Furness H, Salfity L, Devereux J, Halliday D, Hanson H, Ruddy DM, Uk Vhl Study Group, Shah N, Sultana G, Woodward ER, Sandford RN, Snape KM, Maher ER. | Genes (Basel). 2021 Sep 15;12(9):1414. doi: 10.3390/genes12091414. | Furness H | Genes (Basel) | 2021 | 28/09/2021 | PMC8472407 | 10.3390/genes12091414 | |||||||
| Phenotype expansion | Y | 34587495 | Primary X-linked megalocornea presenting in adulthood | Liu S, Sergouniotis PI, Black GC. | Am J Ophthalmol. 2022 Jan;233:e2-e3. doi: 10.1016/j.ajo.2021.09.022. Epub 2021 Sep 26. | Liu S | Am J Ophthalmol | 2022 | 29/09/2021 | 10.1016/j.ajo.2021.09.022 | ||||||||
| Translational studies | Y | 34607248 | Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study | Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun VD, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Le Ber I, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). | Neurobiol Aging. 2021 Dec;108:155-167. doi: 10.1016/j.neurobiolaging.2021.09.001. Epub 2021 Sep 8. | Premi E | Neurobiol Aging | 2021 | 04/10/2021 | 10.1016/j.neurobiolaging.2021.09.001 | ||||||||
| Phenotype expansion | Y | 34611970 | A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy | Blakes AJM, English J, Banka S, Basu H. | Am J Med Genet A. 2022 Feb;188(2):595-599. doi: 10.1002/ajmg.a.62528. Epub 2021 Oct 6. | Blakes AJM | Am J Med Genet A | 2022 | 06/10/2021 | 10.1002/ajmg.a.62528 | ||||||||
| Phenotype expansion | Y | 34649574 | In-depth phenotyping for clinical stratification of Gaucher disease | D'Amore S, Page K, Donald A, Taiyari K, Tom B, Deegan P, Tan CY, Poole K, Jones SA, Mehta A, Hughes D, Sharma R, Lachmann RH, Chakrapani A, Geberhiwot T, Santra S, Banka S, Cox TM; MRC GAUCHERITE Consortium. | Orphanet J Rare Dis. 2021 Oct 14;16(1):431. doi: 10.1186/s13023-021-02034-6. | D'Amore S | Orphanet J Rare Dis | 2021 | 15/10/2021 | PMC8515714 | 10.1186/s13023-021-02034-6 | |||||||
| Translational studies | Y | 34663891 | Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders | Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. | Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. | Rowlands C | Sci Rep | 2021 | 19/10/2021 | PMC8523691 | 10.1038/s41598-021-99747-2 | |||||||
| Mechanistic studies | Y | 34673953 | IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule | Oltrabella F, Jackson-Crawford A, Yan G, Rixham S, Starborg T, Lowe M. | Hum Mol Genet. 2022 Apr 22;31(8):1183-1196. doi: 10.1093/hmg/ddab307. | Oltrabella F | Hum Mol Genet | 2022 | 21/10/2021 | 10.1093/hmg/ddab307 | ||||||||
| Translational studies | Y | 34709361 | Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis | Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D. | JAMA Oncol. 2021 Dec 1;7(12):1800-1805. doi: 10.1001/jamaoncol.2021.4398. | Kratz CP | JAMA Oncol | 2021 | 28/10/2021 | PMC8554692 | 10.1001/jamaoncol.2021.4398 | |||||||
| Mechanistic studies | Y | 34715011 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. | Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. | Hochberg I | Am J Hum Genet | 2021 | 29/10/2021 | PMC8595931 | 10.1016/j.ajhg.2021.10.002 | |||||||
| Translational studies | Y | 34713892 | Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome | Wood KA, Ellingford JM, Thomas HB; Genomics UK Research Consortium; Douzgou S, Beaman GM, Hobson E, Prescott K, O'Keefe RT, Newman WG. | Clin Genet. 2022 Feb;101(2):255-259. doi: 10.1111/cge.14082. Epub 2021 Nov 5. | Wood KA | Clin Genet | 2022 | 29/10/2021 | 10.1111/cge.14082 | ||||||||
| Phenotype expansion | Y | 34716235 | Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project | Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. | J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. | Best S | J Med Genet | 2022 | 30/10/2021 | PMC9340050 | 10.1136/jmedgenet-2021-108065 | |||||||
| Mechanistic studies | Y | 34731604 | SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase | Choi WY, Kim S, Aurass P, Huo W, Creasey EA, Edwards M, Lowe M, Isberg RR. | Cell Rep. 2021 Nov 2;37(5):109894. doi: 10.1016/j.celrep.2021.109894. | Choi WY | Cell Rep | 2021 | 03/11/2021 | PMC8669613 | NIHMS1753725 | 10.1016/j.celrep.2021.109894 | ||||||
| Translational studies | Y | 34732400 | Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study | Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. | BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. | Schon KR | BMJ | 2021 | 04/11/2021 | PMC8565085 | 10.1136/bmj-2021-066288 | |||||||
| Translational studies | Y | 34504687 | PEGS: An efficient tool for gene set enrichment within defined sets of genomic intervals | Briggs P, Hunter AL, Yang SH, Sharrocks AD, Iqbal M. | F1000Res. 2021 Jul 15;10:570. doi: 10.12688/f1000research.53926.2. eCollection 2021. | Briggs P | F1000Res | 2021 | 08/11/2021 | PMC8406447 | 10.12688/f1000research.53926.2 | |||||||
| Mechanistic studies | Y | 34750991 | Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes | Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. | EMBO Mol Med. 2021 Dec 7;13(12):e14397. doi: 10.15252/emmm.202114397. Epub 2021 Nov 8. | Vidali S | EMBO Mol Med | 2021 | 09/11/2021 | PMC8649870 | 10.15252/emmm.202114397 | |||||||
| Translational studies | Y | 34750377 | Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood | Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. | NPJ Genom Med. 2021 Nov 8;6(1):92. doi: 10.1038/s41525-021-00256-y. | Levy MA | NPJ Genom Med | 2021 | 09/11/2021 | PMC8576018 | 10.1038/s41525-021-00256-y | |||||||
| Translational studies | Y | 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report | 100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, et al. | N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. | 100,000 Genomes Project Pilot Investigators | N Engl J Med | 2021 | 10/11/2021 | PMC7613219 | EMS151082 | 10.1056/NEJMoa2035790 | ||||||
| Translational studies | Y | 34788506 | Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome | Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. | N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. | Gentner B | N Engl J Med | 2021 | 17/11/2021 | 10.1056/NEJMoa2106596 | ||||||||
| Phenotype expansion | Y | 34788385 | DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults | Ferris MA, Smith AM, Heath SE, Duncavage EJ, Oberley M, Freyer D, Wynn R, Douzgou S, Maris JM, Reilly AF, Wu MD, Choo F, Fiets RB, Koene S, Spencer DH, Miller CA, Shinawi M, Ley TJ. | Blood. 2022 Jan 20;139(3):461-464. doi: 10.1182/blood.2021014052. | Ferris MA | Blood | 2022 | 17/11/2021 | PMC8777205 | 10.1182/blood.2021014052 | |||||||
| Letters/corrections | Y | 34819528 | Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood | Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. | NPJ Genom Med. 2021 Nov 24;6(1):100. doi: 10.1038/s41525-021-00269-7. | Levy MA | NPJ Genom Med | 2021 | 25/11/2021 | PMC8613275 | 10.1038/s41525-021-00269-7 | |||||||
| Mechanistic studies | Y | 34838308 | Building human renal tracts | Woolf AS. | J Pediatr Surg. 2022 Feb;57(2):172-177. doi: 10.1016/j.jpedsurg.2021.10.022. Epub 2021 Oct 29. | Woolf AS | J Pediatr Surg | 2022 | 28/11/2021 | PMC8837266 | 10.1016/j.jpedsurg.2021.10.022 | |||||||
| Mechanistic studies | Y | 34877508 | GTP binding to translation factor eIF2B stimulates its guanine nucleotide exchange activity | Kershaw CJ, Jennings MD, Cortopassi F, Guaita M, Al-Ghafli H, Pavitt GD. | iScience. 2021 Nov 14;24(12):103454. doi: 10.1016/j.isci.2021.103454. eCollection 2021 Dec 17. | Kershaw CJ | iScience | 2021 | 08/12/2021 | PMC8633983 | 10.1016/j.isci.2021.103454 | |||||||
| Phenotype expansion | Y | 34878179 | Embryonal sarcoma of the liver in a girl with Cockayne syndrome | Thorbinson C, Penn A, Nicola P, Hardcastle C, Waller S, Ramsden S, Coorens THH, Tang V, Cheesman E, Douzgou S, Meyer S. | Clin Genet. 2022 Mar;101(3):375-376. doi: 10.1111/cge.14094. Epub 2021 Dec 8. | Thorbinson C | Clin Genet | 2022 | 08/12/2021 | 10.1111/cge.14094 | ||||||||
| Phenotype expansion | Y | 34887308 | The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant | Berland S, Jareld J, Hickson N, Schlecht H, Houge G, Douzgou S. | Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006121. doi: 10.1101/mcs.a006121. Print 2021 Dec. | Berland S | Cold Spring Harb Mol Case Stud | 2021 | 10/12/2021 | PMC8751416 | 10.1101/mcs.a006121 | |||||||
| Phenotype expansion | Y | 34894057 | Further delineation of phenotypic spectrum of SCN2A-related disorder | Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M. | Am J Med Genet A. 2022 Mar;188(3):867-877. doi: 10.1002/ajmg.a.62595. Epub 2021 Dec 11. | Richardson R | Am J Med Genet A | 2022 | 11/12/2021 | 10.1002/ajmg.a.62595 | ||||||||
| Phenotype expansion | Y | 34897289 | Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study | Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M. | Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038/s41431-021-01015-4. Epub 2021 Dec 13. | Forde C | Eur J Hum Genet | 2022 | 13/12/2021 | PMC8904810 | 10.1038/s41431-021-01015-4 | |||||||
| Translational studies | Y | 34895838 | Intestinal function and transit associate with gut microbiota dysbiosis in cystic fibrosis | Marsh R, Gavillet H, Hanson L, Ng C, Mitchell-Whyte M, Major G, Smyth AR, Rivett D, van der Gast C. | J Cyst Fibros. 2022 May;21(3):506-513. doi: 10.1016/j.jcf.2021.11.014. Epub 2021 Dec 8. | Marsh R | J Cyst Fibros | 2022 | 13/12/2021 | 10.1016/j.jcf.2021.11.014 | ||||||||
| Phenotype expansion | Y | 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency | Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. | Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30. | Fasham J | Genet Med | 2022 | 15/12/2021 | PMC9933146 | NIHMS1867258 | 10.1016/j.gim.2021.10.014 | ||||||
| Phenotype expansion | Y | 34906457 | Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD | Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). | Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. | Garrett A | Genet Med | 2022 | 15/12/2021 | PMC8759765 | 10.1016/j.gim.2021.08.004 | |||||||
| Mechanistic studies | Y | 34919690 | Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects | Sanchez-Martin I, Magalhães P, Ranjzad P, Fatmi A, Richard F, Manh TPV, Saurin AJ, Feuillet G, Denis C, Woolf AS, Schanstra JP, Zürbig P, Caubit X, Fasano L. | Hum Mol Genet. 2022 Jun 22;31(12):1921-1945. doi: 10.1093/hmg/ddab362. | Sanchez-Martin I | Hum Mol Genet | 2022 | 17/12/2021 | 10.1093/hmg/ddab362 | ||||||||
| Mechanistic studies | Y | 34921505 | Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism | Corder ML, Berland S, Førsvoll JA, Banerjee I, Murray P, Bratland E, Gokhale D, Houge G, Douzgou S. | Am J Med Genet A. 2022 Apr;188(4):1065-1074. doi: 10.1002/ajmg.a.62611. Epub 2021 Dec 17. | Corder ML | Am J Med Genet A | 2022 | 18/12/2021 | 10.1002/ajmg.a.62611 | ||||||||
| Translational studies | Y | 34927673 | Forecasting stroke-like episodes and outcomes in mitochondrial disease | Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. | Brain. 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. | Ng YS | Brain | 2022 | 20/12/2021 | PMC9014738 | 10.1093/brain/awab353 | |||||||
| Translational studies | Y | 34930753 | Guidelines for Genetic Testing and Management of Alport Syndrome | Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. | Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. | Savige J | Clin J Am Soc Nephrol | 2022 | 21/12/2021 | PMC8763160 | 10.2215/CJN.04230321 | |||||||
| Mechanistic studies | Y | 34943861 | Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA | Key J, Torres-Odio S, Bach NC, Gispert S, Koepf G, Reichlmeir M, West AP, Prokisch H, Freisinger P, Newman WG, Shalev S, Sieber SA, Wittig I, Auburger G. | Cells. 2021 Nov 29;10(12):3354. doi: 10.3390/cells10123354. | Key J | Cells | 2021 | 24/12/2021 | PMC8699119 | 10.3390/cells10123354 | |||||||
| Mechanistic studies | Y | 34949530 | Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing | Mensah NE, Sabir AH, Bond A, Roworth W, Irving M, Davies AC, Ahn JW. | Genet Med. 2022 Apr;24(4):811-820. doi: 10.1016/j.gim.2021.11.021. Epub 2021 Nov 27. | Mensah NE | Genet Med | 2022 | 24/12/2021 | 10.1016/j.gim.2021.11.021 | ||||||||
| Mechanistic studies | Y | 34949507 | Developmental principles informing human pluripotent stem cell differentiation to cartilage and bone | Humphreys PA, Mancini FE, Ferreira MJS, Woods S, Ogene L, Kimber SJ. | Semin Cell Dev Biol. 2022 Jul;127:17-36. doi: 10.1016/j.semcdb.2021.11.024. Epub 2021 Dec 20. | Humphreys PA | Semin Cell Dev Biol | 2022 | 24/12/2021 | 10.1016/j.semcdb.2021.11.024 | ||||||||
| Mechanistic studies | Y | 34958895 | EVI1 protein interaction dynamics: Targetable for therapeutic intervention? | Paredes R, Doleschall N, Connors K, Geary B, Meyer S. | Exp Hematol. 2022 Mar;107:1-8. doi: 10.1016/j.exphem.2021.12.398. Epub 2021 Dec 24. | Paredes R | Exp Hematol | 2022 | 27/12/2021 | 10.1016/j.exphem.2021.12.398 | ||||||||
| Mechanistic studies | Y | 35023559 | Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance | Hellicar J, Stevenson NL, Stephens DJ, Lowe M. | J Cell Sci. 2022 Jan 1;135(1):jcs258879. doi: 10.1242/jcs.258879. Epub 2022 Jan 13. | Hellicar J | J Cell Sci | 2022 | 13/01/2022 | PMC8767278 | 10.1242/jcs.258879 | |||||||
| Mechanistic studies | Y | 35047860 | Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders | Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. | HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. | Levy MA | HGG Adv | 2021 | 20/01/2022 | PMC8756545 | 10.1016/j.xhgg.2021.100075 | |||||||
| Phenotype expansion | Y | 35047859 | Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability | Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. | HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. | Zhang C | HGG Adv | 2021 | 20/01/2022 | PMC8756549 | 10.1016/j.xhgg.2021.100074 | |||||||
| Phenotype expansion | Y | 35060672 | Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D | Tharreau M, Garde A, Marlin S, Morel G, Ernest S, Nambot S, Duffourd Y, Ternoy N, Duvillard C, Banka S, Philippe C, Thauvin-Robinet C, Mau-Them FT, Faivre L. | Am J Med Genet A. 2022 May;188(5):1600-1606. doi: 10.1002/ajmg.a.62642. Epub 2022 Jan 21. | Tharreau M | Am J Med Genet A | 2022 | 21/01/2022 | 10.1002/ajmg.a.62642 | ||||||||
| Translational studies | Y | 35065709 | MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease | Rowlands CF, Taylor A, Rice G, Whiffin N, Hall HN, Newman WG, Black GCM; kConFab Investigators; O'Keefe RT, Hubbard S, Douglas AGL, Baralle D, Briggs TA, Ellingford JM. | Am J Hum Genet. 2022 Feb 3;109(2):210-222. doi: 10.1016/j.ajhg.2021.12.014. Epub 2022 Jan 21. | Rowlands CF | Am J Hum Genet | 2022 | 23/01/2022 | PMC8874219 | 10.1016/j.ajhg.2021.12.014 | |||||||
| Mechanistic studies | Y | 35076391 | Kidney organoids recapitulate human basement membrane assembly in health and disease | Morais MRPT, Tian P, Lawless C, Murtuza-Baker S, Hopkinson L, Woods S, Mironov A, Long DA, Gale DP, Zorn TMT, Kimber SJ, Zent R, Lennon R. | Elife. 2022 Jan 25;11:e73486. doi: 10.7554/eLife.73486. | Morais MRPT | Elife | 2022 | 25/01/2022 | PMC8849328 | 10.7554/eLife.73486 | |||||||
| Translational studies | Y | 35084692 | Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort | Shears A, Steele C, Craig J, Jolles S, Savic S, Hague R, Coulter T, Herriot R, Arkwright PD. | J Clin Immunol. 2022 Apr;42(3):665-671. doi: 10.1007/s10875-022-01213-9. Epub 2022 Jan 27. | Shears A | J Clin Immunol | 2022 | 27/01/2022 | PMC8793329 | 10.1007/s10875-022-01213-9 | |||||||
| Phenotype expansion | Y | 35132614 | Systemic inflammatory syndrome in children with FARSA deficiency | Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. | Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. | Charbit-Henrion F | Clin Genet | 2022 | 08/02/2022 | PMC9303323 | 10.1111/cge.14120 | |||||||
| Mechanistic studies | Y | 35136384 | Loop-Mediated Isothermal Amplification Detection of SARS-CoV-2 and Myriad Other Applications | Moore KJM, Cahill J, Aidelberg G, Aronoff R, Bektaş A, Bezdan D, Butler DJ, Chittur SV, Codyre M, Federici F, Tanner NA, Tighe SW, True R, Ware SB, Wyllie AL, Afshin EE, Bendesky A, Chang CB, Dela Rosa R 2nd, Elhaik E, Erickson D, Goldsborough AS, Grills G, Hadasch K, Hayden A, Her SY, Karl JA, Kim CH, Kriegel AJ, Kunstman T, Landau Z, Land K, Langhorst BW, Lindner AB, Mayer BE, McLaughlin LA, McLaughlin MT, Molloy J, Mozsary C, Nadler JL, D'Silva M, Ng D, O'Connor DH, Ongerth JE, Osuolale O, Pinharanda A, Plenker D, Ranjan R, Rosbash M, Rotem A, Segarra J, Schürer S, Sherrill-Mix S, Solo-Gabriele H, To S, Vogt MC, Yu AD, Mason CE; gLAMP Consortium. | J Biomol Tech. 2021 Sep;32(3):228-275. doi: 10.7171/jbt.21-3203-017. | Moore KJM | J Biomol Tech | 2021 | 09/02/2022 | PMC8802757 | 10.7171/jbt.21-3203-017 | |||||||
| Mechanistic studies | Y | 35139179 | Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology | Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. | Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. | Banka S | Brain | 2022 | 09/02/2022 | PMC9762944 | 10.1093/brain/awac049 | |||||||
| Disease gene discoveries | Y | 35149593 | A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness | Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. | J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. | Issler N | J Am Soc Nephrol | 2022 | 12/02/2022 | PMC8970462 | 10.1681/ASN.2021101312 | |||||||
| Translational studies | Y | 35160330 | Inherited Cancer Genetic Epidemiology to Improve Precision Medicine | Møller P, Evans DG. | J Clin Med. 2022 Feb 8;11(3):879. doi: 10.3390/jcm11030879. | Møller P | J Clin Med | 2022 | 15/02/2022 | PMC8837116 | 10.3390/jcm11030879 | |||||||
| Translational studies | Y | 35182377 | Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality | Gasteiger N, Vercell A, Davies A, Dowding D, Khan N, Davies A. | J Community Genet. 2022 Apr;13(2):171-182. doi: 10.1007/s12687-022-00579-y. Epub 2022 Feb 19. | Gasteiger N | J Community Genet | 2022 | 19/02/2022 | PMC8941009 | 10.1007/s12687-022-00579-y | |||||||
| Mechanistic studies | Y | 35211492 | The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome | Yamamura T, Horinouchi T, Aoto Y, Lennon R, Nozu K. | Front Med (Lausanne). 2022 Feb 8;9:841391. doi: 10.3389/fmed.2022.841391. eCollection 2022. | Yamamura T | Front Med (Lausanne) | 2022 | 25/02/2022 | PMC8861460 | 10.3389/fmed.2022.841391 | |||||||
| Disease gene discoveries | Y | 35246174 | Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia | Taylor RL, Soriano CS, Williams S, Dzulova D, Ashworth J, Hall G, Gale T, Lloyd IC, Inglehearn CF, Toomes C, Douzgou S, Black GC. | Orphanet J Rare Dis. 2022 Mar 4;17(1):110. doi: 10.1186/s13023-022-02239-3. | Taylor RL | Orphanet J Rare Dis | 2022 | 05/03/2022 | PMC8896279 | 10.1186/s13023-022-02239-3 | |||||||
| Genetic counselling / PPIE | Y | 35256770 | Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research | Johnson F, Ulph F, MacLeod R, Southern KW. | Eur J Hum Genet. 2022 May;30(5):520-531. doi: 10.1038/s41431-022-01054-5. Epub 2022 Mar 8. | Johnson F | Eur J Hum Genet | 2022 | 08/03/2022 | PMC9090782 | 10.1038/s41431-022-01054-5 | |||||||
| Translational studies | Y | 35260474 | UK recommendations for SDHA germline genetic testing and surveillance in clinical practice | Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. | J Med Genet. 2023 Feb;60(2):107-111. doi: 10.1136/jmedgenet-2021-108355. Epub 2022 Mar 8. | Hanson H | J Med Genet | 2023 | 09/03/2022 | PMC9887350 | 10.1136/jmedgenet-2021-108355 | |||||||
| Translational studies | Y | 35266292 | The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery | Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M. | Am J Med Genet A. 2022 Jun;188(6):1915-1927. doi: 10.1002/ajmg.a.62716. Epub 2022 Mar 9. | Kontaridis MI | Am J Med Genet A | 2022 | 10/03/2022 | PMC9117434 | NIHMS1784537 | 10.1002/ajmg.a.62716 | ||||||
| Mechanistic studies | Y | 35278129 | Basement membrane defects in CD151-associated glomerular disease | Naylor RW, Watson E, Williamson S, Preston R, Davenport JB, Thornton N, Lowe M, Williams M, Lennon R. | Pediatr Nephrol. 2022 Dec;37(12):3105-3115. doi: 10.1007/s00467-022-05447-y. Epub 2022 Mar 12. | Naylor RW | Pediatr Nephrol | 2022 | 12/03/2022 | PMC9587066 | 10.1007/s00467-022-05447-y | |||||||
| Disease gene discoveries | Y | 35320431 | Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement | Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA); Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. | J Clin Immunol. 2022 Jul;42(5):962-974. doi: 10.1007/s10875-022-01209-5. Epub 2022 Mar 23. | Naesens L | J Clin Immunol | 2022 | 23/03/2022 | PMC9402729 | 10.1007/s10875-022-01209-5 | |||||||
| Translational studies | Y | 35323199 | Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe | Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. | Int J Neonatal Screen. 2022 Mar 15;8(1):20. doi: 10.3390/ijns8010020. | Jones SA | Int J Neonatal Screen | 2022 | 24/03/2022 | PMC8951961 | 10.3390/ijns8010020 | |||||||
| Phenotype expansion | Y | 35339292 | Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia | Gazzina S, Grassi M, Premi E, Alberici A, Benussi A, Archetti S, Gasparotti R, Bocchetta M, Cash DM, Todd EG, Peakman G, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce R Jr, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). | Neurobiol Aging. 2022 Jun;114:94-104. doi: 10.1016/j.neurobiolaging.2022.02.009. Epub 2022 Feb 26. | Gazzina S | Neurobiol Aging | 2022 | 27/03/2022 | 10.1016/j.neurobiolaging.2022.02.009 | ||||||||
| Disease gene discoveries | Y | 35341651 | SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile | Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. | Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. | Al-Jawahiri R | Genet Med | 2022 | 28/03/2022 | PMC9245088 | NIHMS1816323 | 10.1016/j.gim.2022.02.013 | ||||||
| Mechanistic studies | Y | 35353387 | The two pore potassium channel THIK-1 regulates NLRP3 inflammasome activation | Drinkall S, Lawrence CB, Ossola B, Russell S, Bender C, Brice NB, Dawson LA, Harte M, Brough D. | Glia. 2022 Jul;70(7):1301-1316. doi: 10.1002/glia.24174. Epub 2022 Mar 30. | Drinkall S | Glia | 2022 | 30/03/2022 | PMC9314991 | 10.1002/glia.24174 | |||||||
| Mechanistic studies | Y | 35358476 | Barrier-Forming Potential of Epithelial Cells from the Exstrophic Bladder | Hinley J, Duke R, Jinks J, Stahlschmidt J, Keene D, Cervellione RM, Mushtaq I, De Coppi P, Garriboli M, Southgate J. | Am J Pathol. 2022 Jun;192(6):943-955. doi: 10.1016/j.ajpath.2022.03.009. Epub 2022 Mar 28. | Hinley J | Am J Pathol | 2022 | 31/03/2022 | PMC9194657 | 10.1016/j.ajpath.2022.03.009 | |||||||
| Phenotype expansion | Y | 35361920 | ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis | Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I. | Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1. | Evans DG | Eur J Hum Genet | 2022 | 01/04/2022 | PMC9259735 | 10.1038/s41431-022-01086-x | |||||||
| Translational studies | Y | 35391499 | Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population | Deng F, Evans DG, Smith MJ. | Hum Mutat. 2022 Jul;43(7):919-927. doi: 10.1002/humu.24376. Epub 2022 Apr 14. | Deng F | Hum Mutat | 2022 | 07/04/2022 | PMC9324957 | 10.1002/humu.24376 | |||||||
| Phenotype expansion | Y | 35388185 | The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience | Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM. | Eur J Hum Genet. 2022 Jul;30(7):841-847. doi: 10.1038/s41431-022-01097-8. Epub 2022 Apr 6. | Douzgou S | Eur J Hum Genet | 2022 | 07/04/2022 | PMC9259744 | 10.1038/s41431-022-01097-8 | |||||||
| Mechanistic studies | Y | 35396535 | Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas | Ng AWT, Contino G, Killcoyne S, Devonshire G, Hsu R, Abbas S, Su J, Redmond AM, Weaver JMJ, Eldridge MD, Tavaré S; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Edwards PAW, Fitzgerald RC. | Commun Biol. 2022 Apr 8;5(1):335. doi: 10.1038/s42003-022-03238-7. | Ng AWT | Commun Biol | 2022 | 09/04/2022 | PMC8993906 | 10.1038/s42003-022-03238-7 | |||||||
| Mechanistic studies | Y | 35416346 | SIRT1 activity orchestrates ECM expression during hESC-chondrogenic differentiation | Smith CA, Humphreys PA, Bates N, Naven MA, Cain SA, Dvir-Ginzberg M, Kimber SJ. | FASEB J. 2022 May;36(5):e22314. doi: 10.1096/fj.202200169R. | Smith CA | FASEB J | 2022 | 13/04/2022 | PMC9322318 | 10.1096/fj.202200169R | |||||||
| Clinical trials | Y | 35418701 | Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women | Wang X, Kapoor PM, Auer PL, Dennis J, Dunning AM, Wang Q, Lush M, Michailidou K, Bolla MK, Aronson KJ, Murphy RA, Brooks-Wilson A, Lee DG, Cordina-Duverger E, Guénel P, Truong T, Mulot C, Teras LR, Patel AV, Dossus L, Kaaks R, Hoppe R, Lo WY, Brüning T, Hamann U, Czene K, Gabrielson M, Hall P, Eriksson M, Jung A, Becher H, Couch FJ, Larson NL, Olson JE, Ruddy KJ, Giles GG, MacInnis RJ, Southey MC, Le Marchand L, Wilkens LR, Haiman CA, Olsson H, Augustinsson A, Krüger U, Wagner P, Scott C, Winham SJ, Vachon CM, Perou CM, Olshan AF, Troester MA, Hunter DJ, Eliassen HA, Tamimi RM, Brantley K, Andrulis IL, Figueroa J, Chanock SJ, Ahearn TU, García-Closas M, Evans GD, Newman WG, van Veen EM, Howell A, Wolk A, Håkansson N, Anton-Culver H, Ziogas A, Jones ME, Orr N, Schoemaker MJ, Swerdlow AJ, Kitahara CM, Linet M, Prentice RL, Easton DF, Milne RL, Kraft P, Chang-Claude J, Lindström S. | Sci Rep. 2022 Apr 13;12(1):6199. doi: 10.1038/s41598-022-10121-2. | Wang X | Sci Rep | 2022 | 14/04/2022 | PMC9007944 | 10.1038/s41598-022-10121-2 | |||||||
| Mechanistic studies | Y | 35439358 | Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling | Hopton C, Tijsen AJ, Maizels L, Arbel G, Gepstein A, Bates N, Brown B, Huber I, Kimber SJ, Newman WG, Venetucci L, Gepstein L. | Physiol Rep. 2022 Apr;10(8):e15265. doi: 10.14814/phy2.15265. | Hopton C | Physiol Rep | 2022 | 19/04/2022 | PMC9017975 | 10.14814/phy2.15265 | |||||||
| Translational studies | Y | 35466196 | A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes | Burlina A, Jones SA, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Cheillan D. | Int J Neonatal Screen. 2022 Mar 25;8(2):25. doi: 10.3390/ijns8020025. | Burlina A | Int J Neonatal Screen | 2022 | 25/04/2022 | PMC9036245 | 10.3390/ijns8020025 | |||||||
| Mechanistic studies | Y | 35476365 | Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis | Wai HA, Constable M, Drewes C, Davies IC, Svobodova E, Dempsey E, Saggar A, Homfray T, Mansour S, Douzgou S, Barr K, Mercer C, Hunt D, Douglas AGL, Baralle D. | Hum Mutat. 2022 Jul;43(7):963-970. doi: 10.1002/humu.24378. Epub 2022 Apr 27. | Wai HA | Hum Mutat | 2022 | 27/04/2022 | PMC9325405 | 10.1002/humu.24378 | |||||||
| Phenotype expansion | Y | 35488810 | Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome | Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. | Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. | Cappuccio G | Am J Med Genet C Semin Med Genet | 2022 | 30/04/2022 | PMC9322429 | 10.1002/ajmg.c.31973 | |||||||
| Mechanistic studies | Y | 35491304 | Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex | Beaman GM, Woolf AS, Lopes FM, Guo SA, Harkness JR, Cervellione RM, Keene D, Mushtaq I, Clatworthy MR, Newman WG. | J Pediatr Urol. 2022 Jun;18(3):362.e1-362.e8. doi: 10.1016/j.jpurol.2022.04.006. Epub 2022 Apr 12. | Beaman GM | J Pediatr Urol | 2022 | 01/05/2022 | 10.1016/j.jpurol.2022.04.006 | ||||||||
| Mechanistic studies | Y | 35506254 | Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders | Lee S, Ochoa E, Barwick K, Cif L, Rodger F, Docquier F, Pérez-Dueñas B, Clark G, Martin E, Banka S, Kurian MA, Maher ER. | Epigenomics. 2022 May;14(9):537-547. doi: 10.2217/epi-2021-0521. Epub 2022 May 4. | Lee S | Epigenomics | 2022 | 04/05/2022 | 10.2217/epi-2021-0521 | ||||||||
| Translational studies | Y | 35523996 | Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom | Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. | J Community Genet. 2022 Jun;13(3):313-327. doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6. | Costa A | J Community Genet | 2022 | 06/05/2022 | PMC9075921 | 10.1007/s12687-022-00589-w | |||||||
| Phenotype expansion | Y | 35561216 | Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 | Mcharg S, Booth L, Perveen R, Riba Garcia I, Brace N, Bayatti N, Sergouniotis PI, Phillips AM, Day AJ, Black GCM, Clark SJ, Dowsey AW, Unwin RD, Bishop PN. | Proc Natl Acad Sci U S A. 2022 May 17;119(20):e2118510119. doi: 10.1073/pnas.2118510119. Epub 2022 May 13. | Mcharg S | Proc Natl Acad Sci U S A | 2022 | 13/05/2022 | PMC9171765 | 10.1073/pnas.2118510119 | |||||||
| Clinical trials | Y | 35563245 | Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder? | Horgan C, Jones SA, Bigger BW, Wynn R. | Int J Mol Sci. 2022 Apr 27;23(9):4854. doi: 10.3390/ijms23094854. | Horgan C | Int J Mol Sci | 2022 | 14/05/2022 | PMC9105950 | 10.3390/ijms23094854 | |||||||
| Mechanistic studies | Y | 35569693 | The dynamic kidney matrisome - is the circadian clock in control? | Preston R, Meng QJ, Lennon R. | Matrix Biol. 2022 Dec;114:138-155. doi: 10.1016/j.matbio.2022.05.005. Epub 2022 May 12. | Preston R | Matrix Biol | 2022 | 15/05/2022 | 10.1016/j.matbio.2022.05.005 | ||||||||
| Mechanistic studies | Y | 35577938 | Recommendations for whole genome sequencing in diagnostics for rare diseases | Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. | Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. | Souche E | Eur J Hum Genet | 2022 | 16/05/2022 | PMC9437083 | 10.1038/s41431-022-01113-x | |||||||
| Mechanistic studies | Y | 35584218 | A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations | Jayadev R, Morais MRPT, Ellingford JM, Srinivasan S, Naylor RW, Lawless C, Li AS, Ingham JF, Hastie E, Chi Q, Fresquet M, Koudis NM, Thomas HB, O'Keefe RT, Williams E, Adamson A, Stuart HM, Banka S, Smedley D; Genomics England Research Consortium; Sherwood DR, Lennon R. | Sci Adv. 2022 May 20;8(20):eabn2265. doi: 10.1126/sciadv.abn2265. Epub 2022 May 18. | Jayadev R | Sci Adv | 2022 | 18/05/2022 | PMC9116610 | 10.1126/sciadv.abn2265 | |||||||
| Mechanistic studies | Y | 35616009 | Pacsin2 is required for endocytosis in the zebrafish pronephric tubule | Morgan J, Yarwood R, Starborg T, Yan G, Lowe M. | Biol Open. 2022 Jun 15;11(6):bio059150. doi: 10.1242/bio.059150. Epub 2022 Jun 23. | Morgan J | Biol Open | 2022 | 26/05/2022 | PMC9235069 | 10.1242/bio.059150 | |||||||
| Mechanistic studies | Y | 35621265 | Cytosolic aspartate aminotransferase moonlights as a ribosome-binding modulator of Gcn2 activity during oxidative stress | Crawford RA, Ashe MP, Hubbard SJ, Pavitt GD. | Elife. 2022 May 27;11:e73466. doi: 10.7554/eLife.73466. | Crawford RA | Elife | 2022 | 27/05/2022 | PMC9191892 | 10.7554/eLife.73466 | |||||||
| Phenotype expansion | Y | 35633130 | Clinical and genetic findings in TRPM1-related congenital stationary night blindness | Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. | Acta Ophthalmol. 2022 Sep;100(6):e1332-e1339. doi: 10.1111/aos.15186. Epub 2022 May 28. | Iosifidis C | Acta Ophthalmol | 2022 | 28/05/2022 | 10.1111/aos.15186 | ||||||||
| Mechanistic studies | Y | 35627149 | Network Approaches for Charting the Transcriptomic and Epigenetic Landscape of the Developmental Origins of Health and Disease | Lombardo SD, Wangsaputra IF, Menche J, Stevens A. | Genes (Basel). 2022 Apr 26;13(5):764. doi: 10.3390/genes13050764. | Lombardo SD | Genes (Basel) | 2022 | 28/05/2022 | PMC9141211 | 10.3390/genes13050764 | |||||||
| Mechanistic studies | Y | 35648586 | Laminin N-terminus α31 expression during development is lethal and causes widespread tissue-specific defects in a transgenic mouse model | Sugden CJ, Iorio V, Troughton LD, Liu K, Morais MRPT, Lennon R, Bou-Gharios G, Hamill KJ. | FASEB J. 2022 Jul;36(7):e22318. doi: 10.1096/fj.202002588RRR. | Sugden CJ | FASEB J | 2022 | 01/06/2022 | PMC9328196 | 10.1096/fj.202002588RRR | |||||||
| Translational studies | Y | 35657381 | Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) | Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK. | Genet Med. 2022 Sep;24(9):1867-1877. doi: 10.1016/j.gim.2022.05.002. Epub 2022 Jun 3. | Loong L | Genet Med | 2022 | 03/06/2022 | 10.1016/j.gim.2022.05.002 | ||||||||
| Mechanistic studies | Y | 35664072 | Development of human cartilage circadian rhythm in a stem cell-chondrogenesis model | Naven MA, Zeef LAH, Li S, Humphreys PA, Smith CA, Pathiranage D, Cain S, Woods S, Bates N, Au M, Wen C, Kimber SJ, Meng QJ. | Theranostics. 2022 May 13;12(8):3963-3976. doi: 10.7150/thno.70893. eCollection 2022. | Naven MA | Theranostics | 2022 | 06/06/2022 | PMC9131279 | 10.7150/thno.70893 | |||||||
| Phenotype expansion | Y | 35670985 | DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling | Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. | J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. | Tusseau M | J Clin Immunol | 2022 | 07/06/2022 | 10.1007/s10875-022-01287-5 | ||||||||
| Mechanistic studies | Y | 35681054 | SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma | St Pierre R, Collings CK, Samé Guerra DD, Widmer CJ, Bolonduro O, Mashtalir N, Sankar A, Liang Y, Bi WL, Gerkes EH, Ramesh V, Qi J, Smith MJ, Meredith DM, Kadoch C. | Nat Genet. 2022 Jun;54(6):861-873. doi: 10.1038/s41588-022-01077-0. Epub 2022 Jun 9. | St Pierre R | Nat Genet | 2022 | 10/06/2022 | 10.1038/s41588-022-01077-0 | ||||||||
| Clinical trials | Y | 35717194 | Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease | Donald A, Björkvall CK, Vellodi A; GAUCHERITE Consortium; Cox TM, Hughes D, Jones SA, Wynn R, Machaczka M. | Orphanet J Rare Dis. 2022 Jun 18;17(1):234. doi: 10.1186/s13023-022-02378-7. | Donald A | Orphanet J Rare Dis | 2022 | 18/06/2022 | PMC9206376 | 10.1186/s13023-022-02378-7 | |||||||
| Mechanistic studies | Y | 35716957 | A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish | Naylor RW, Lemarie E, Jackson-Crawford A, Davenport JB, Mironov A, Lowe M, Lennon R. | Kidney Int. 2022 Oct;102(4):815-827. doi: 10.1016/j.kint.2022.05.019. Epub 2022 Jun 15. | Naylor RW | Kidney Int | 2022 | 18/06/2022 | PMC7614274 | EMS170654 | 10.1016/j.kint.2022.05.019 | ||||||
| Phenotype expansion | Y | 35723634 | Screening of potential novel candidate genes in schwannomatosis patients | Perez-Becerril C, Wallace AJ, Schlecht H, Bowers NL, Smith PT, Gokhale C, Eaton H, Charlton C, Robinson R, Charlton RS, Evans DG, Smith MJ. | Hum Mutat. 2022 Oct;43(10):1368-1376. doi: 10.1002/humu.24424. Epub 2022 Jun 27. | Perez-Becerril C | Hum Mutat | 2022 | 20/06/2022 | PMC9540472 | 10.1002/humu.24424 | |||||||
| Translational studies | Y | 35768194 | Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group | Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. | J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. | Guerrini-Rousseau L | J Med Genet | 2022 | 29/06/2022 | PMC9613872 | 10.1136/jmedgenet-2021-108385 | |||||||
| Letters/corrections | Y | 35773560 | Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom | Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. | J Community Genet. 2022 Jun;13(3):365-369. doi: 10.1007/s12687-022-00592-1. | Costa A | J Community Genet | 2022 | 30/06/2022 | PMC9270548 | 10.1007/s12687-022-00592-1 | |||||||
| Translational studies | Y | 35881727 | Co-designed strategies for delivery of positive newborn bloodspot screening results to parents: the ReSPoND mixed-methods study | Chudleigh J, Holder P, Fusco F, Bonham JR, Bryon M, Moody L, Morris S, Olander EK, Simpson A, Chinnery H, Ulph F, Southern KW. | Southampton (UK): National Institute for Health and Care Research; 2022 Jul. | Chudleigh J | Co-designed strategies for delivery of positive newborn bloodspot screening results to parents: the ReSPoND mixed-methods study | 2022 | 01/07/2022 | 10.3310/HTXH9624 | ||||||||
| Disease gene discoveries | Y | 35781182 | Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency | Demain LAM, Metcalfe K, Boetje E, Clayton P, Martindale EA, Busby G, O'Keefe RT, Newman WG. | Reprod Biomed Online. 2022 Oct;45(4):727-729. doi: 10.1016/j.rbmo.2022.05.003. Epub 2022 May 13. | Demain LAM | Reprod Biomed Online | 2022 | 05/07/2022 | 10.1016/j.rbmo.2022.05.003 | ||||||||
| Mechanistic studies | Y | 35803923 | The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism | Michaud V, Lasseaux E, Green DJ, Gerrard DT, Plaisant C; UK Biobank Eye and Vision Consortium; Fitzgerald T, Birney E, Arveiler B, Black GC, Sergouniotis PI. | Nat Commun. 2022 Jul 8;13(1):3939. doi: 10.1038/s41467-022-31392-3. | Michaud V | Nat Commun | 2022 | 08/07/2022 | PMC9270319 | 10.1038/s41467-022-31392-3 | |||||||
| Disease gene discoveries | Y | 35812751 | Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder | Beaman GM, Lopes FM, Hofmann A, Roesch W, Promm M, Bijlsma EK, Patel C, Akinci A, Burgu B, Knijnenburg J, Ho G, Aufschlaeger C, Dathe S, Voelckel MA, Cohen M, Yue WW, Stuart HM, Mckenzie EA, Elvin M, Roberts NA, Woolf AS, Newman WG. | Front Genet. 2022 Jun 23;13:896125. doi: 10.3389/fgene.2022.896125. eCollection 2022. | Beaman GM | Front Genet | 2022 | 11/07/2022 | PMC9259970 | 10.3389/fgene.2022.896125 | |||||||
| Translational studies | Y | 35850704 | Recommendations for clinical interpretation of variants found in non-coding regions of the genome | Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. | Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. | Ellingford JM | Genome Med | 2022 | 19/07/2022 | PMC9295495 | 10.1186/s13073-022-01073-3 | |||||||
| Mechanistic studies | Y | 35870643 | The kidney matrisome in health, aging, and disease | Lausecker F, Lennon R, Randles MJ. | Kidney Int. 2022 Nov;102(5):1000-1012. doi: 10.1016/j.kint.2022.06.029. Epub 2022 Jul 20. | Lausecker F | Kidney Int | 2022 | 23/07/2022 | 10.1016/j.kint.2022.06.029 | ||||||||
| Phenotype expansion | Y | 35869927 | Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry | Polgreen LE, Bay L, Clarke LA, Guffon N, Jones SA, Muenzer J, Flores AL, Wilson K, Viskochil D. | Am J Med Genet A. 2022 Oct;188(10):2941-2951. doi: 10.1002/ajmg.a.62910. Epub 2022 Jul 23. | Polgreen LE | Am J Med Genet A | 2022 | 23/07/2022 | PMC9545955 | 10.1002/ajmg.a.62910 | |||||||
| Disease gene discoveries | Y | 35871492 | Bi-allelic FRA10AC1 variants in a multisystem human syndrome | Banka S, Shalev S, Park SM, Wood KA, Thomas HB, Wright HL, Alyahya M, Bankier S, Alimi O, Chervinsky E, Zeef LAH, O'Keefe RT. | Brain. 2022 Oct 21;145(10):e86-e89. doi: 10.1093/brain/awac262. | Banka S | Brain | 2022 | 24/07/2022 | 10.1093/brain/awac262 | ||||||||
| Clinical trials | Y | 35878732 | Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up | Mathers JC, Elliott F, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar RS, Seppälä TT, Thomas HJW, Sheth HJ, Pylvänäinen K, Reed L, Borthwick GM, Bishop DT, Burn J; CAPP2 Investigators. | Cancer Prev Res (Phila). 2022 Sep 1;15(9):623-634. doi: 10.1158/1940-6207.CAPR-22-0044. | Mathers JC | Cancer Prev Res (Phila) | 2022 | 25/07/2022 | PMC9433960 | EMS150759 | 10.1158/1940-6207.CAPR-22-0044 | ||||||
| Mechanistic studies | Y | 35878408 | The inositol 5-phosphatase INPP5B regulates B cell receptor clustering and signaling | Droubi A, Wallis C, Anderson KE, Rahman S, de Sa A, Rahman T, Stephens LR, Hawkins PT, Lowe M. | J Cell Biol. 2022 Sep 5;221(9):e202112018. doi: 10.1083/jcb.202112018. Epub 2022 Jul 25. | Droubi A | J Cell Biol | 2022 | 25/07/2022 | PMC9351708 | 10.1083/jcb.202112018 | |||||||
| Phenotype expansion | Y | 35898720 | Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72 | Bruffaerts R, Gors D, Bárcenas Gallardo A, Vandenbulcke M, Van Damme P, Suetens P, van Swieten JC, Borroni B, Sanchez-Valle R, Moreno F, Laforce R Jr, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Rohrer JD, Dupont P, Claes P, Vandenberghe R; Genetic Frontotemporal dementia Initiative (GENFI). | Brain Commun. 2022 Jul 18;4(4):fcac182. doi: 10.1093/braincomms/fcac182. eCollection 2022. | Bruffaerts R | Brain Commun | 2022 | 28/07/2022 | PMC9311825 | 10.1093/braincomms/fcac182 | |||||||
| Phenotype expansion | Y | 35904228 | A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review | Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. | Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. | Maharaj A | Endocr Connect | 2022 | 29/07/2022 | PMC9346324 | 10.1530/EC-22-0250 | |||||||
| Translational studies | Y | 35904121 | Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders | Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. | Hum Mutat. 2022 Nov;43(11):1609-1628. doi: 10.1002/humu.24446. Epub 2022 Aug 21. | Levy MA | Hum Mutat | 2022 | 29/07/2022 | 10.1002/humu.24446 | ||||||||
| Mechanistic studies | Y | 35914810 | Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms | Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. | Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. | Nolden KA | Life Sci Alliance | 2022 | 01/08/2022 | PMC9354038 | 10.26508/lsa.202101284 | |||||||
| Mechanistic studies | Y | 35933957 | Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing | Liu J, Black GC, Kimber SJ, Sergouniotis PI. | Stem Cell Res. 2022 Oct;64:102880. doi: 10.1016/j.scr.2022.102880. Epub 2022 Jul 30. | Liu J | Stem Cell Res | 2022 | 07/08/2022 | 10.1016/j.scr.2022.102880 | ||||||||
| Phenotype expansion | Y | 35934205 | Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene | Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI, Cremers FPM, Hardcastle AJ, Castle B, Steel DHW, Webster AR, Black GC, El-Asrag ME, Ali M, Toomes C, Inglehearn CF; UK Inherited Retinal Dystrophy Consortium; Genomics England Research Consortium. | Ophthalmology. 2023 Jan;130(1):68-76. doi: 10.1016/j.ophtha.2022.07.023. Epub 2022 Aug 5. | Yahya S | Ophthalmology | 2023 | 07/08/2022 | 10.1016/j.ophtha.2022.07.023 | ||||||||
| Clinical trials | Y | 35961250 | Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II | Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; SHP609-302 study group. | Mol Genet Metab. 2022 Sep-Oct;137(1-2):92-103. doi: 10.1016/j.ymgme.2022.07.016. Epub 2022 Aug 2. | Muenzer J | Mol Genet Metab | 2022 | 12/08/2022 | 10.1016/j.ymgme.2022.07.016 | ||||||||
| Disease gene discoveries | Y | 35986704 | Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome | Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X. | Br J Dermatol. 2022 Dec;187(6):948-961. doi: 10.1111/bjd.21842. Epub 2022 Sep 12. | Liu Y | Br J Dermatol | 2022 | 20/08/2022 | 10.1111/bjd.21842 | ||||||||
| Phenotype expansion | Y | 35997807 | De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis | Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E; Yale Center for Genome Analysis; Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, Alperovich M, Steinbacher D, Staffenberg DA, Flores RL, Persing JA, Kahle KT, Lifton RP. | Hum Genet. 2023 Jan;142(1):21-32. doi: 10.1007/s00439-022-02477-2. Epub 2022 Aug 23. | Timberlake AT | Hum Genet | 2023 | 23/08/2022 | 10.1007/s00439-022-02477-2 | ||||||||
| Clinical trials | Y | 36027721 | Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study | Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; HGT-HIT-094 Study Group. | Mol Genet Metab. 2022 Sep-Oct;137(1-2):127-139. doi: 10.1016/j.ymgme.2022.07.017. Epub 2022 Aug 2. | Muenzer J | Mol Genet Metab | 2022 | 26/08/2022 | 10.1016/j.ymgme.2022.07.017 | ||||||||
| Disease gene discoveries | Y | 36044892 | Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly | Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. | Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. | Thomas Q | Am J Hum Genet | 2022 | 31/08/2022 | PMC9606387 | 10.1016/j.ajhg.2022.08.008 | |||||||
| Letters/corrections | Y | 36064515 | Corrigendum to "Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study" [Neurobiology of Aging Volume 108, December 2021, Pages 155-167] | Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun V, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe J, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). | Neurobiol Aging. 2022 Nov;119:140-144. doi: 10.1016/j.neurobiolaging.2022.08.005. Epub 2022 Sep 2. | Premi E | Neurobiol Aging | 2022 | 05/09/2022 | 10.1016/j.neurobiolaging.2022.08.005 | ||||||||
| Phenotype expansion | Y | 36074901 | ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy | Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. | Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. | Mattison KA | Brain | 2023 | 08/09/2022 | PMC10319782 | 10.1093/brain/awac330 | |||||||
| Translational studies | Y | 36084042 | Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies | Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. | Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. | Daich Varela M | Hum Mol Genet | 2023 | 09/09/2022 | PMC9896476 | 10.1093/hmg/ddac227 | |||||||
| Mechanistic studies | Y | 36097176 | A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma | Paterson C, Bozic I, Smith MJ, Hoad X, Evans DGR. | Br J Cancer. 2022 Nov;127(10):1843-1857. doi: 10.1038/s41416-022-01955-8. Epub 2022 Sep 12. | Paterson C | Br J Cancer | 2022 | 13/09/2022 | PMC9643471 | 10.1038/s41416-022-01955-8 | |||||||
| Mechanistic studies | Y | 36142486 | Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies | Stepien KM, Cufflin N, Donald A, Jones S, Church H, Hargreaves IP. | Int J Mol Sci. 2022 Sep 12;23(18):10573. doi: 10.3390/ijms231810573. | Stepien KM | Int J Mol Sci | 2022 | 23/09/2022 | PMC9503973 | 10.3390/ijms231810573 | |||||||
| Mechanistic studies | Y | 36153371 | Regulatory chromatin rewiring promotes metabolic switching during adaptation to oncogenic receptor tyrosine kinase inhibition | Ogden S, Carys K, Ahmed I, Bruce J, Sharrocks AD. | Oncogene. 2022 Oct;41(43):4808-4822. doi: 10.1038/s41388-022-02465-w. Epub 2022 Sep 24. | Ogden S | Oncogene | 2022 | 24/09/2022 | PMC9586873 | EMS153561 | 10.1038/s41388-022-02465-w | ||||||
| Translational studies | Y | 36162801 | Impact of a Decade of Research Into Atopic Dermatitis | Arkwright PD, Koplin JJ. | J Allergy Clin Immunol Pract. 2023 Jan;11(1):63-71. doi: 10.1016/j.jaip.2022.09.021. Epub 2022 Sep 23. | Arkwright PD | J Allergy Clin Immunol Pract | 2023 | 26/09/2022 | 10.1016/j.jaip.2022.09.021 | ||||||||
| Clinical trials | Y | 36163489 | Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy | Jalil A, Ivanova T, Moussa G, Parry NRA, Black GCM. | Eye (Lond). 2023 Jun;37(9):1874-1877. doi: 10.1038/s41433-022-02262-5. Epub 2022 Sep 26. | Jalil A | Eye (Lond) | 2023 | 27/09/2022 | PMC10275908 | 10.1038/s41433-022-02262-5 | |||||||
| Phenotype expansion | Y | 36169901 | Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein-Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia - a Case Report | Senthil S, Thrasher AJ, Gilmour KC, Wright T, Wynn RF. | J Clin Immunol. 2023 Jan;43(1):82-84. doi: 10.1007/s10875-022-01367-6. Epub 2022 Sep 28. | Senthil S | J Clin Immunol | 2023 | 28/09/2022 | 10.1007/s10875-022-01367-6 | ||||||||
| Phenotype expansion | Y | 36171661 | Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome | Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. | J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. doi: 10.1093/jnci/djac188. | Hendricks LAJ | J Natl Cancer Inst | 2023 | 29/09/2022 | 10.1093/jnci/djac188 | ||||||||
| Phenotype expansion | Y | 36182917 | Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium | Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zaránd A, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepisto A, Peltomäki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, de Vargas AF, Latchford A, Gerdes AM, Backman AS, Guillén-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubiński J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary MN, Samadder NJ, et al. | Hered Cancer Clin Pract. 2022 Oct 1;20(1):36. doi: 10.1186/s13053-022-00241-1. | Møller P | Hered Cancer Clin Pract | 2022 | 01/10/2022 | PMC9526951 | 10.1186/s13053-022-00241-1 | |||||||
| Mechanistic studies | Y | 36191840 | Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling | Sallah SR, Sergouniotis PI, Hardcastle C, Ramsden S, Lotery AJ, Lench N, Lovell SC, Black GCM. | J Mol Diagn. 2022 Dec;24(12):1232-1239. doi: 10.1016/j.jmoldx.2022.09.005. Epub 2022 Oct 1. | Sallah SR | J Mol Diagn | 2022 | 03/10/2022 | 10.1016/j.jmoldx.2022.09.005 | ||||||||
| Phenotype expansion | Y | 36228738 | Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome | Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, et al. | J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. | Leiding JW | J Allergy Clin Immunol | 2023 | 13/10/2022 | PMC10081938 | NIHMS1843105 | 10.1016/j.jaci.2022.09.002 | ||||||
| Translational studies | Y | 36237195 | Somatostatin receptors in congenital hyperinsulinism: Biology to bedside | van Albada ME, Mohnike K, Dunne MJ, Banerjee I, Betz SF. | Front Endocrinol (Lausanne). 2022 Sep 27;13:921357. doi: 10.3389/fendo.2022.921357. eCollection 2022. | van Albada ME | Front Endocrinol (Lausanne) | 2022 | 14/10/2022 | PMC9552539 | 10.3389/fendo.2022.921357 | |||||||
| Phenotype expansion | Y | 36270489 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. | Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. | Hendricks LAJ | Eur J Med Genet | 2022 | 21/10/2022 | 10.1016/j.ejmg.2022.104632 | ||||||||
| Mechanistic studies | Y | 36271826 | Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy | Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S. | Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. | Sitaram S | Am J Med Genet A | 2023 | 22/10/2022 | PMC10091700 | 10.1002/ajmg.a.62999 | |||||||
| Phenotype expansion | Y | 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study | Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. | Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. | Loong L | Genet Med | 2023 | 02/11/2022 | 10.1016/j.gim.2022.09.007 | ||||||||
| Phenotype expansion | Y | 36329026 | The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision | Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. | Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. | Chrystal PW | Nat Commun | 2022 | 04/11/2022 | PMC9633640 | 10.1038/s41467-022-33820-w | |||||||
| Phenotype expansion | Y | 36331550 | Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia | Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. | Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. | Morsy H | Genet Med | 2023 | 04/11/2022 | PMC10620943 | 10.1016/j.gim.2022.09.013 | |||||||
| Phenotype expansion | Y | 36333503 | Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism | Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. | Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. | Wakeling MN | Nat Genet | 2022 | 05/11/2022 | PMC7614032 | EMS154463 | 10.1038/s41588-022-01204-x | ||||||
| Mechanistic studies | Y | 36344265 | Loss of NF1 in Drosophila Larvae Causes Tactile Hypersensitivity and Impaired Synaptic Transmission at the Neuromuscular Junction | Dyson A, Ryan M, Garg S, Evans DG, Baines RA. | J Neurosci. 2022 Dec 14;42(50):9450-9472. doi: 10.1523/JNEUROSCI.0562-22.2022. Epub 2022 Nov 7. | Dyson A | J Neurosci | 2022 | 07/11/2022 | PMC9794380 | 10.1523/JNEUROSCI.0562-22.2022 | |||||||
| Mechanistic studies | Y | 36352089 | A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy | Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. | Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. | Mingardo E | Commun Biol | 2022 | 09/11/2022 | PMC9646906 | 10.1038/s42003-022-04092-3 | |||||||
| Mechanistic studies | Y | 36368447 | ADAMTS6 cleaves the large latent TGFβ complex and increases the mechanotension of cells to activate TGFβ | Cain SA, Woods S, Singh M, Kimber SJ, Baldock C. | Matrix Biol. 2022 Dec;114:18-34. doi: 10.1016/j.matbio.2022.11.001. Epub 2022 Nov 8. | Cain SA | Matrix Biol | 2022 | 11/11/2022 | 10.1016/j.matbio.2022.11.001 | ||||||||
| Phenotype expansion | Y | 36385166 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition | Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. | Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. | Palmer EE | Mol Psychiatry | 2023 | 17/11/2022 | PMC9908558 | 10.1038/s41380-022-01852-9 | |||||||
| Mechanistic studies | Y | 36399564 | Nonstop mRNAs generate a ground state of mitochondrial gene expression noise | Ng KY, Lutfullahoglu Bal G, Richter U, Safronov O, Paulin L, Dunn CD, Paavilainen VO, Richer J, Newman WG, Taylor RW, Battersby BJ. | Sci Adv. 2022 Nov 16;8(46):eabq5234. doi: 10.1126/sciadv.abq5234. Epub 2022 Nov 18. | Ng KY | Sci Adv | 2022 | 18/11/2022 | PMC9674279 | 10.1126/sciadv.abq5234 | |||||||
| Translational studies | Y | 36411032 | UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2 | Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. | J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. | Hanson H | J Med Genet | 2023 | 21/11/2022 | PMC10176381 | 10.1136/jmg-2022-108898 | |||||||
| Phenotype expansion | Y | 36436516 | Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes | Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. | Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. | Garcia-Pelaez J | Lancet Oncol | 2023 | 27/11/2022 | PMC9810541 | 10.1016/S1470-2045(22)00643-X | |||||||
| Phenotype expansion | Y | 36443488 | Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study | Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI. | J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29. | Pérez-Millan A | J Neurol | 2023 | 28/11/2022 | 10.1007/s00415-022-11435-x | ||||||||
| Phenotype expansion | Y | 36478354 | Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence | Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM. | Am J Med Genet A. 2023 Mar;191(3):730-741. doi: 10.1002/ajmg.a.63067. Epub 2022 Dec 7. | Nayak SS | Am J Med Genet A | 2023 | 08/12/2022 | 10.1002/ajmg.a.63067 | ||||||||
| Phenotype expansion | Y | 36503917 | 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum | Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. | Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. | Ashton CJ | Clin Dysmorphol | 2023 | 12/12/2022 | 10.1097/MCD.0000000000000443 | ||||||||
| Clinical trials | Y | 36517856 | Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results | Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. | Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. | Diaz GA | Orphanet J Rare Dis | 2022 | 14/12/2022 | PMC9749157 | 10.1186/s13023-022-02587-0 | |||||||
| Phenotype expansion | Y | 36526900 | Mate-pair genome sequencing reveals structural variants for idiopathic male infertility | Dong Z, Qian J, Law TSM, Chau MHK, Cao Y, Xue S, Tong S, Zhao Y, Kwok YK, Ng K, Chan DYL, Chiu PK, Ng CF, Chung CHS, Mak JSM, Leung TY, Chung JPW, Morton CC, Choy KW. | Hum Genet. 2023 Mar;142(3):363-377. doi: 10.1007/s00439-022-02510-4. Epub 2022 Dec 16. | Dong Z | Hum Genet | 2023 | 16/12/2022 | 10.1007/s00439-022-02510-4 | ||||||||
| Phenotype expansion | Y | 36528028 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy | Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. | Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. | Paul MS | Am J Hum Genet | 2023 | 17/12/2022 | PMC9892767 | 10.1016/j.ajhg.2022.11.011 | |||||||
| Translational studies | Y | 36529447 | Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations | Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C. | Ann Oncol. 2023 Mar;34(3):215-227. doi: 10.1016/j.annonc.2022.12.003. Epub 2022 Dec 16. | Kuzbari Z | Ann Oncol | 2023 | 18/12/2022 | 10.1016/j.annonc.2022.12.003 | ||||||||
| Genetic counselling / PPIE | Y | 36543930 | Research priorities in psychiatric genetic counselling: how to talk to children and adolescents about genetics and psychiatric disorders | Mundy J, Davies HL, Radu M, Austin J, Vassos E, Eley TC, Breen G, Moldovan R. | Eur J Hum Genet. 2023 Mar;31(3):262-264. doi: 10.1038/s41431-022-01253-0. Epub 2022 Dec 21. | Mundy J | Eur J Hum Genet | 2023 | 21/12/2022 | PMC9995650 | 10.1038/s41431-022-01253-0 | |||||||
| Phenotype expansion | Y | 36546557 | Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21 | Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ. | Brain. 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. | Sadler KV | Brain | 2023 | 22/12/2022 | PMC10317144 | 10.1093/brain/awac478 | |||||||
| Phenotype expansion | Y | 36586540 | Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency | Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. | Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. | Gallon R | Gastroenterology | 2023 | 31/12/2022 | 10.1053/j.gastro.2022.12.017 | ||||||||
| Mechanistic studies | Y | 36669873 | EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders | Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. | J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. | Lenassi E | J Med Genet | 2023 | 20/01/2023 | PMC10423522 | 10.1136/jmg-2022-108618 | |||||||
| Mechanistic studies | Y | 36681873 | A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. | Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. | Denommé-Pichon AS | Genet Med | 2023 | 22/01/2023 | 10.1016/j.gim.2023.100018 | ||||||||
| Letters/corrections | Y | 36690832 | Correction: The 2019 and 2021 International workshops on Alport syndrome | Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. | Eur J Hum Genet. 2023 Jan 24. doi: 10.1038/s41431-023-01286-z. Online ahead of print. | Daga S | Eur J Hum Genet | 2023 | 23/01/2023 | 10.1038/s41431-023-01286-z | ||||||||
| Phenotype expansion | Y | 36689522 | Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects | Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G; Genomics England Research Consortium; McGrath JA, Banka S. | Br J Dermatol. 2023 Jan 23;188(1):75-83. doi: 10.1093/bjd/ljac026. | Jackson A | Br J Dermatol | 2023 | 23/01/2023 | 10.1093/bjd/ljac026 | ||||||||
| Phenotype expansion | Y | 36695497 | Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity | Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. | Ophthalmic Genet. 2022 Dec;43(6):809-816. doi: 10.1080/13816810.2022.2144905. | Holt R | Ophthalmic Genet | 2022 | 25/01/2023 | 10.1080/13816810.2022.2144905 | ||||||||
| Phenotype expansion | Y | 36705323 | Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration | Julian TH, Cooper-Knock J, MacGregor S, Guo H, Aslam T, Sanderson E, Black GCM, Sergouniotis PI. | Elife. 2023 Jan 27;12:e82546. doi: 10.7554/eLife.82546. | Julian TH | Elife | 2023 | 27/01/2023 | PMC9883012 | 10.7554/eLife.82546 | |||||||
| Letters/corrections | Y | 36721056 | Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. | Eur J Hum Genet. 2023 Jan 31. doi: 10.1038/s41431-023-01288-x. Online ahead of print. | Savige J | Eur J Hum Genet | 2023 | 31/01/2023 | 10.1038/s41431-023-01288-x | ||||||||
| Genetic counselling / PPIE | Y | 36731744 | An European overview of genetic counselling supervision provision | Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra-Juhé C. | Eur J Med Genet. 2023 Apr;66(4):104710. doi: 10.1016/j.ejmg.2023.104710. Epub 2023 Jan 30. | Paneque M | Eur J Med Genet | 2023 | 02/02/2023 | 10.1016/j.ejmg.2023.104710 | ||||||||
| Phenotype expansion | Y | 36753016 | Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2 | Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne-Boland-Auge, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ, El-Daher MT. | J Clin Immunol. 2023 May;43(4):808-818. doi: 10.1007/s10875-023-01445-3. Epub 2023 Feb 8. | Zhu G | J Clin Immunol | 2023 | 08/02/2023 | PMC10110676 | 10.1007/s10875-023-01445-3 | |||||||
| Letters/corrections | Y | 36810320 | Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20" | Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. | Int J Neonatal Screen. 2023 Feb 16;9(1):8. doi: 10.3390/ijns9010008. | Jones SA | Int J Neonatal Screen | 2023 | 22/02/2023 | PMC9944469 | 10.3390/ijns9010008 | |||||||
| Mechanistic studies | Y | 36826399 | Reproducible variability: assessing investigator discordance across 9 research teams attempting to reproduce the same observational study | Ostropolets A, Albogami Y, Conover M, Banda JM, Baumgartner WA, Blacketer C, Desai P, DuVall SL, Fortin S, Gilbert JP, Golozar A, Ide J, Kanter AS, Kern DM, Kim C, Lai LYH, Li C, Liu F, Lynch KE, Minty E, Neves MI, Ng DQ, Obene T, Pera V, Pratt N, Rao G, Rappoport N, Reinecke I, Saroufim P, Shoaibi A, Simon K, Suchard MA, Swerdel JN, Voss EA, Weaver J, Zhang L, Hripcsak G, Ryan PB. | J Am Med Inform Assoc. 2023 Apr 19;30(5):859-868. doi: 10.1093/jamia/ocad009. | Ostropolets A | J Am Med Inform Assoc | 2023 | 24/02/2023 | PMC10114120 | 10.1093/jamia/ocad009 | |||||||
| Mechanistic studies | Y | 36897941 | Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice | Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, et al. | Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. | Sheppard SE | Sci Adv | 2023 | 10/03/2023 | PMC10005179 | 10.1126/sciadv.ade1463 | |||||||
| Letters/corrections | Y | 36918897 | Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results | Diaz GA, Giugliani R, Gufon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. | Orphanet J Rare Dis. 2023 Mar 14;18(1):55. doi: 10.1186/s13023-023-02647-z. | Diaz GA | Orphanet J Rare Dis | 2023 | 15/03/2023 | PMC10012553 | 10.1186/s13023-023-02647-z | |||||||
| Mechanistic studies | Y | 36940798 | Podocyte protease activated receptor 1 stimulation in mice produces focal segmental glomerulosclerosis mirroring human disease signaling events | May CJ, Chesor M, Hunter SE, Hayes B, Barr R, Roberts T, Barrington FA, Farmer L, Ni L, Jackson M, Snethen H, Tavakolidakhrabadi N, Goldstone M, Gilbert R, Beesley M, Lennon R, Foster R, Coward R, Welsh GI, Saleem MA. | Kidney Int. 2023 Aug;104(2):265-278. doi: 10.1016/j.kint.2023.02.031. Epub 2023 Mar 20. | May CJ | Kidney Int | 2023 | 20/03/2023 | 10.1016/j.kint.2023.02.031 | ||||||||
| Phenotype expansion | Y | 36943452 | Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly | Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. | Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. | Schnabel F | Hum Genet | 2023 | 21/03/2023 | PMC10060356 | 10.1007/s00439-023-02528-2 | |||||||
| Mechanistic studies | Y | 36942637 | Development of a sensitive biochemical assay for the detection of tofacitinib adherence | Church S, Hyrich KL, Ogungbenro K, Unwin RD, Barton A, Bluett J. | Anal Methods. 2023 Apr 6;15(14):1797-1801. doi: 10.1039/d2ay01800d. | Church S | Anal Methods | 2023 | 21/03/2023 | PMC10076935 | 10.1039/d2ay01800d | |||||||
| Mechanistic studies | Y | 36941451 | PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing | Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, Yarwood R, Heinz LX, Sedlyarov V, Miranda ND, Taylor A, Grapentine S, Al-Murshedi F, Abot A, Weidinger A, Kutchukian C, Sanchez C, Cronin SJF, Novatchkova M, Kavirayani A, Schuetz T, Haubner B, Haas L, Hagelkruys A, Jackowski S, Kozlov AV, Jacquemond V, Knauf C, Superti-Furga G, Rullman E, Gustafsson T, McDermot J, Lowe M, Radak Z, Chamberlain JS, Bakovic M, Banka S, Penninger JM. | Nat Metab. 2023 Mar;5(3):495-515. doi: 10.1038/s42255-023-00766-2. Epub 2023 Mar 20. | Cikes D | Nat Metab | 2023 | 21/03/2023 | 10.1038/s42255-023-00766-2 | ||||||||
| Phenotype expansion | Y | 36952639 | DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity | Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. | Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. | Boussard C | Blood | 2023 | 23/03/2023 | 10.1182/blood.2022018486 | ||||||||
| Mechanistic studies | Y | 36949945 | Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome | Withers SE, Rowlands CF, Tapia VS, Hedley F, Mosneag IE, Crilly S, Rice GI, Badrock AP, Hayes A, Allan SM, Briggs TA, Kasher PR. | Front Immunol. 2023 Mar 6;14:1100967. doi: 10.3389/fimmu.2023.1100967. eCollection 2023. | Withers SE | Front Immunol | 2023 | 23/03/2023 | PMC10025490 | 10.3389/fimmu.2023.1100967 | |||||||
| Phenotype expansion | Y | 36961676 | Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 | Smith MJ, Woodward ER, Evans DG. | Fam Cancer. 2023 Jul;22(3):341-344. doi: 10.1007/s10689-023-00330-7. Epub 2023 Mar 24. | Smith MJ | Fam Cancer | 2023 | 24/03/2023 | PMC10276115 | 10.1007/s10689-023-00330-7 | |||||||
| Mechanistic studies | Y | 36977792 | Modelling human lower urinary tract malformations in zebrafish | Kolvenbach CM, Dworschak GC, Rieke JM, Woolf AS, Reutter H, Odermatt B, Hilger AC. | Mol Cell Pediatr. 2023 Mar 29;10(1):2. doi: 10.1186/s40348-023-00156-4. | Kolvenbach CM | Mol Cell Pediatr | 2023 | 28/03/2023 | PMC10050536 | 10.1186/s40348-023-00156-4 | |||||||
| Phenotype expansion | Y | 37009414 | Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. | HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. | Jackson A | HGG Adv | 2023 | 03/04/2023 | PMC10064225 | 10.1016/j.xhgg.2023.100186 | |||||||
| Letters/corrections | Y | 37024756 | Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing | Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, Yarwood R, Heinz LX, Sedlyarov V, Miranda ND, Taylor A, Grapentine S, Al-Murshedi F, Abot A, Weidinger A, Kutchukian C, Sanchez C, Cronin SJF, Novatchkova M, Kavirayani A, Schuetz T, Haubner B, Haas L, Hagelkruys A, Jackowski S, Kozlov AV, Jacquemond V, Knauf C, Superti-Furga G, Rullman E, Gustafsson T, McDermot J, Lowe M, Radak Z, Chamberlain JS, Bakovic M, Banka S, Penninger JM. | Nat Metab. 2023 Apr;5(4):711. doi: 10.1038/s42255-023-00791-1. | Cikes D | Nat Metab | 2023 | 06/04/2023 | 10.1038/s42255-023-00791-1 | ||||||||
| Phenotype expansion | Y | 37041148 | FOXI3 pathogenic variants cause one form of craniofacial microsomia | Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. | Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. | Mao K | Nat Commun | 2023 | 11/04/2023 | PMC10090152 | 10.1038/s41467-023-37703-6 | |||||||
| Translational studies | Y | 37039238 | The role of knowledge, primary care and community engagement to improve breast-screening access for Pakistani women in the United Kingdom: A secondary analysis of a qualitative study | Khattak HM, Woof VG, French DP, Donnelly LS, Ruane H, Ulph F, Qureshi N, Khan N, Evans DG, Robb KA. | J Health Serv Res Policy. 2023 Jul;28(3):149-156. doi: 10.1177/13558196231155824. Epub 2023 Apr 11. | Khattak HM | J Health Serv Res Policy | 2023 | 11/04/2023 | PMC10363928 | 10.1177/13558196231155824 | |||||||
| Mechanistic studies | Y | 37070186 | Interaction of the La-related protein Slf1 with colliding ribosomes maintains translation of oxidative-stress responsive mRNAs | Jennings MD, Srivastava P, Kershaw CJ, Talavera D, Grant CM, Pavitt GD. | Nucleic Acids Res. 2023 Jun 23;51(11):5755-5773. doi: 10.1093/nar/gkad272. | Jennings MD | Nucleic Acids Res | 2023 | 18/04/2023 | PMC10287931 | 10.1093/nar/gkad272 | |||||||
| Clinical trials | Y | 37100699 | Volanesorsen and triglyceride levels in familial chylomicronemia syndrome: Long-term efficacy and safety data from patients in an open-label extension trial | Witztum JL, Gaudet D, Arca M, Jones A, Soran H, Gouni-Berthold I, Stroes ESG, Alexander VJ, Jones R, Watts L, Xia S, Tsimikas S. | J Clin Lipidol. 2023 May-Jun;17(3):342-355. doi: 10.1016/j.jacl.2023.03.007. Epub 2023 Mar 22. | Witztum JL | J Clin Lipidol | 2023 | 26/04/2023 | 10.1016/j.jacl.2023.03.007 | ||||||||
| Translational studies | Y | 37120077 | Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 | Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium; Evans DG, van Ravenswaaij-Arts CMA, Kant SG. | Eur J Med Genet. 2023 Jul;66(7):104773. doi: 10.1016/j.ejmg.2023.104773. Epub 2023 Apr 28. | Koza SA | Eur J Med Genet | 2023 | 29/04/2023 | 10.1016/j.ejmg.2023.104773 | ||||||||
| Mechanistic studies | Y | 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model | Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. | Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. | Deng R | Acta Neuropathol | 2023 | 29/04/2023 | PMC10328903 | 10.1007/s00401-023-02579-9 | |||||||
| Translational studies | Y | 37132126 | Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations | Nebgen DR, Domchek SM, Kotsopoulos J, de Hullu JA, Crosbie EJ, Paramanandam VS, Brood-van Zanten MMA, Norquist BM, Guise T, Rozenberg S, Kurian AW, Pederson HJ, Yuksel N, Michaelson-Cohen R, Bober SL, da Silva Filho AL, Johansen N, Guidozzi F, Evans DG, Menon U, Kingsberg SA, Powell CB, Grandi G, Marchetti C, Jacobson M, Brennan DJ, Hickey M. | BJOG. 2023 Nov;130(12):1437-1450. doi: 10.1111/1471-0528.17511. Epub 2023 May 2. | Nebgen DR | BJOG | 2023 | 03/05/2023 | 10.1111/1471-0528.17511 | ||||||||
| Phenotype expansion | Y | 37166351 | Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders | Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, van Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. | Hum Mol Genet. 2023 Nov 3;32(22):3123-3134. doi: 10.1093/hmg/ddad079. | Lee S | Hum Mol Genet | 2023 | 11/05/2023 | PMC10630252 | 10.1093/hmg/ddad079 | |||||||
| Phenotype expansion | Y | 37171742 | JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study | Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B. | J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12. | Frémond ML | J Clin Immunol | 2023 | 12/05/2023 | PMC10175907 | 10.1007/s10875-023-01500-z | |||||||
| Clinical trials | Y | 37185294 | A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibromatosis Type 1 Identifies Simvastatin and BMS-204352 as Potential Therapies for Autism Spectrum Disorder (ASD) | Dyson A, Ryan M, Garg S, Evans DG, Baines RA. | eNeuro. 2023 May 16;10(5):ENEURO.0461-22.2023. doi: 10.1523/ENEURO.0461-22.2023. Print 2023 May. | Dyson A | eNeuro | 2023 | 15/05/2023 | PMC10198605 | 10.1523/ENEURO.0461-22.2023 | |||||||
| Mechanistic studies | Y | 37198378 | Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review | Gasteiger N, Vercell A, Khan N, Dowding D, Davies AC, Davies A. | J Community Genet. 2023 Jun;14(3):227-240. doi: 10.1007/s12687-023-00648-w. Epub 2023 May 18. | Gasteiger N | J Community Genet | 2023 | 17/05/2023 | PMC10271952 | 10.1007/s12687-023-00648-w | |||||||
| Phenotype expansion | Y | 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder | Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, et al. | Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. | Rots D | Am J Hum Genet | 2023 | 17/05/2023 | PMC10257005 | 10.1016/j.ajhg.2023.04.008 | |||||||
| Phenotype expansion | Y | 37195326 | MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly | Tkemaladze T, Bratland E, Bregvadze K, Shatirishvili T, Tatishvili N, Abzianidze E, Houge G, Douzgou S. | Clin Dysmorphol. 2023 Jul 1;32(3):97-105. doi: 10.1097/MCD.0000000000000461. Epub 2023 May 8. | Tkemaladze T | Clin Dysmorphol | 2023 | 17/05/2023 | 10.1097/MCD.0000000000000461 | ||||||||
| Mechanistic studies | Y | 37212263 | Fusion of Rabies Virus Glycoprotein or gh625 to Iduronate-2-Sulfatase for the Treatment of Mucopolysaccharidosis Type II | Wood SR, Chaudrhy A, Ellison S, Searle R, Burgod C, Tehseen G, Forte G, O'Leary C, Gleitz H, Liao A, Cook J, Holley R, Bigger BW. | Hum Gene Ther. 2024 Apr;35(7-8):232-242. doi: 10.1089/hum.2023.025. Epub 2023 Jul 7. | Wood SR | Hum Gene Ther | 2024 | 22/05/2023 | 10.1089/hum.2023.025 | ||||||||
| Phenotype expansion | Y | 37233662 | Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options | Bashir B, Ho JH, Downie P, Hamilton P, Ferns G, Datta D, Cegla J, Wierzbicki AS, Dawson C, Jenkinson F, Delaney H, Mansfield M, Teoh Y, Miedzybrodzka Z, Haso H, Durrington PN, Soran H. | Metabolites. 2023 Apr 30;13(5):621. doi: 10.3390/metabo13050621. | Bashir B | Metabolites | 2023 | 26/05/2023 | PMC10224445 | 10.3390/metabo13050621 | |||||||
| Clinical trials | Y | 37253281 | Long-term effects of volanesorsen on triglycerides and pancreatitis in patients with familial chylomicronaemia syndrome (FCS) in the UK Early Access to Medicines Scheme (EAMS) | Jones A, Peers K, Wierzbicki AS, Ramachandran R, Mansfield M, Dawson C, Ochoa-Ferraro A, Soran H, Jenkinson F, McDowell I, Downie P, Hamilton P, Jones RD. | Atherosclerosis. 2023 Jun;375:67-74. doi: 10.1016/j.atherosclerosis.2023.05.008. Epub 2023 May 15. | Jones A | Atherosclerosis | 2023 | 30/05/2023 | 10.1016/j.atherosclerosis.2023.05.008 | ||||||||
| Mechanistic studies | Y | 37254875 | Locus conversions are rare in the LRFN5 locus | Sampson J; Genomics England Research Consortium; Houge G, Banka S. | Autism Res. 2023 Jun;16(6):1084-1085. doi: 10.1002/aur.2963. Epub 2023 May 31. | Sampson J | Autism Res | 2023 | 31/05/2023 | 10.1002/aur.2963 | ||||||||
| Clinical trials | Y | 37267152 | Socioeconomic deprivation is associated with reduced response and lower treatment persistence with TNF inhibitors in rheumatoid arthritis | Zhao SS, Rogers K, Kearsley-Fleet L, Watson K, Bosworth A, Galloway J, Verstappen S, Plant D; BSRBR-RA Contributors Group, BRAGGSS; Barton A, Hyrich KL, Humphreys JH. | Rheumatology (Oxford). 2023 Jun 2:kead261. doi: 10.1093/rheumatology/kead261. Online ahead of print. | Zhao SS | Rheumatology (Oxford) | 2023 | 02/06/2023 | 10.1093/rheumatology/kead261 | ||||||||
| Translational studies | Y | 37306816 | The Implementation of Pharmacogenetics in the United Kingdom | McDermott JH, Sharma V, Keen J, Newman WG, Pirmohamed M. | Handb Exp Pharmacol. 2023;280:3-32. doi: 10.1007/164_2023_658. | McDermott JH | Handb Exp Pharmacol | 2023 | 12/06/2023 | 10.1007/164_2023_658 | ||||||||
| Phenotype expansion | Y | 37321975 | MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma | Jedlickova J, Vajter M, Barta T, Black GCM, Perveen R, Mares J, Fichtl M, Kousal B, Dudakova L, Liskova P. | Clin Genet. 2023 Oct;104(4):418-426. doi: 10.1111/cge.14391. Epub 2023 Jun 15. | Jedlickova J | Clin Genet | 2023 | 15/06/2023 | 10.1111/cge.14391 | ||||||||
| Phenotype expansion | Y | 37340071 | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study | Julian TH, Girach Z, Sanderson E, Guo H, Yu J, Cooper-Knock J, Black GC, Sergouniotis PI. | Sci Rep. 2023 Jun 20;13(1):9984. doi: 10.1038/s41598-023-37144-7. | Julian TH | Sci Rep | 2023 | 20/06/2023 | PMC10282034 | 10.1038/s41598-023-37144-7 | |||||||
| Phenotype expansion | Y | 37339320 | Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty | Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. | J Clin Endocrinol Metab. 2023 Jun 20:dgad373. doi: 10.1210/clinem/dgad373. Online ahead of print. | Duckett K | J Clin Endocrinol Metab | 2023 | 20/06/2023 | 10.1210/clinem/dgad373 | ||||||||
| Phenotype expansion | Y | 37352860 | Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans | Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. | Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. Epub 2023 Jun 22. | Guo L | Am J Hum Genet | 2023 | 23/06/2023 | PMC10357479 | 10.1016/j.ajhg.2023.06.001 | |||||||
| Mechanistic studies | Y | 37361999 | Induced pluripotent stem cell model revealed impaired neurovascular interaction in genetic small vessel disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | Zhang W, Zhao X, Qi X, Kimber SJ, Hooper NM, Wang T. | Front Cell Neurosci. 2023 Jun 8;17:1195470. doi: 10.3389/fncel.2023.1195470. eCollection 2023. | Zhang W | Front Cell Neurosci | 2023 | 26/06/2023 | PMC10285224 | 10.3389/fncel.2023.1195470 | |||||||
| Mechanistic studies | Y | 37372421 | Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond | Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A. | Genes (Basel). 2023 Jun 10;14(6):1241. doi: 10.3390/genes14061241. | Barili V | Genes (Basel) | 2023 | 28/06/2023 | PMC10297877 | 10.3390/genes14061241 | |||||||
| Translational studies | Y | 37407981 | Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC | O'Leary C, Forte G, Mitchell NL, Youshani AS, Dyer A, Wellby MP, Russell KN, Murray SJ, Jolinon N, Jones SA, Stacey K, Davis DM, Henckaerts E, Palmer DN, Kamaly-Asl I, Bigger BW. | J Transl Med. 2023 Jul 5;21(1):437. doi: 10.1186/s12967-023-04208-1. | O'Leary C | J Transl Med | 2023 | 05/07/2023 | PMC10320977 | 10.1186/s12967-023-04208-1 | |||||||
| Translational studies | Y | 37423316 | Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases | Ciucă A, Banka S, Newman WG, Moldovan R, Kirkham JJ. | J Clin Epidemiol. 2023 Sep;161:84-93. doi: 10.1016/j.jclinepi.2023.07.002. Epub 2023 Jul 7. | Ciucă A | J Clin Epidemiol | 2023 | 09/07/2023 | 10.1016/j.jclinepi.2023.07.002 | ||||||||
| Translational studies | Y | 37427450 | Establishment of the Effectiveness of Early Versus Late Stem Cell Gene Therapy in Mucopolysaccharidosis II for Treating Central Versus Peripheral Disease | Mandolfo O, Liao A, Singh E, O'leary C, Holley RJ, Bigger BW. | Hum Gene Ther. 2024 Apr;35(7-8):243-255. doi: 10.1089/hum.2023.002. Epub 2023 Aug 30. | Mandolfo O | Hum Gene Ther | 2024 | 10/07/2023 | 10.1089/hum.2023.002 | ||||||||
| Disease gene discoveries | Y | 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders | Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. | Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. | Gracia-Diaz C | Nat Commun | 2023 | 11/07/2023 | PMC10336078 | 10.1038/s41467-023-39645-5 | |||||||
| Disease gene discoveries | Y | 37441484 | Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease | Grenier C, Lopes FM, Cueto-González AM, Rovira-Moreno E, Gander R, Jarvis BW, McCloskey KD, Gurney AM, Beaman GM, Newman WG, Woolf AS, Roberts NA. | Kidney Int Rep. 2023 Apr 30;8(7):1417-1429. doi: 10.1016/j.ekir.2023.04.017. eCollection 2023 Jul. | Grenier C | Kidney Int Rep | 2023 | 13/07/2023 | PMC10334403 | 10.1016/j.ekir.2023.04.017 | |||||||
| Translational studies | Y | 37450567 | Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis | Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, MacPherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. | Brain. 2023 Jul 14:awad240. doi: 10.1093/brain/awad240. Online ahead of print. | Dominik N | Brain | 2023 | 14/07/2023 | 10.1093/brain/awad240 | ||||||||
| Translational studies | Y | 37460203 | A multilayered approach to the analysis of genetic data from individuals with suspected albinism | Sergouniotis PI, Michaud V, Lasseaux E, Campbell C, Plaisant C, Javerzat S, Birney E, Ramsden SC, Black GC, Arveiler B. | J Med Genet. 2023 Jul 17:jmg-2022-109088. doi: 10.1136/jmg-2022-109088. Online ahead of print. | Sergouniotis PI | J Med Genet | 2023 | 17/07/2023 | 10.1136/jmg-2022-109088 | ||||||||
| Phenotype expansion | Y | 37473537 | Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice | Andreou T, Ishikawa-Learmonth Y, Bigger BW. | Mol Genet Metab. 2023 Aug;139(4):107651. doi: 10.1016/j.ymgme.2023.107651. Epub 2023 Jul 13. | Andreou T | Mol Genet Metab | 2023 | 20/07/2023 | 10.1016/j.ymgme.2023.107651 | ||||||||
| Mechanistic studies | Y | 37536606 | Warming during embryogenesis induces a lasting transcriptomic signature in fishes | Ripley DM, Garner T, Hook SA, Veríssimo A, Grunow B, Moritz T, Clayton P, Shiels HA, Stevens A. | Sci Total Environ. 2023 Dec 1;902:165954. doi: 10.1016/j.scitotenv.2023.165954. Epub 2023 Aug 1. | Ripley DM | Sci Total Environ | 2023 | 03/08/2023 | 10.1016/j.scitotenv.2023.165954 | ||||||||
| Mechanistic studies | Y | 37541189 | HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. | Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. | Niggl E | Am J Hum Genet | 2023 | 04/08/2023 | PMC10432175 | 10.1016/j.ajhg.2023.07.005 | |||||||
| Disease gene discoveries | Y | 37558808 | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 | Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. | Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. | Smith TB | Eur J Hum Genet | 2023 | 09/08/2023 | PMC10545766 | 10.1038/s41431-023-01437-2 | |||||||
| Translational studies | Y | 37580336 | Predicting congenital renal tract malformation genes using machine learning | Kabir M, Stuart HM, Lopes FM, Fotiou E, Keavney B, Doig AJ, Woolf AS, Hentges KE. | Sci Rep. 2023 Aug 14;13(1):13204. doi: 10.1038/s41598-023-38110-z. | Kabir M | Sci Rep | 2023 | 14/08/2023 | PMC10425350 | 10.1038/s41598-023-38110-z | |||||||
| Phenotype expansion | Y | 37667371 | Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy | Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, Broomfield A, Woodall A, Wilcox G, Sergouniotis PI, Black GC. | Orphanet J Rare Dis. 2023 Sep 4;18(1):265. doi: 10.1186/s13023-023-02840-0. | Palmer E | Orphanet J Rare Dis | 2023 | 04/09/2023 | PMC10476330 | 10.1186/s13023-023-02840-0 | |||||||
| Phenotype expansion | Y | 37673932 | Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return | Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. | Eur J Hum Genet. 2023 Sep 7. doi: 10.1038/s41431-023-01451-4. Online ahead of print. | Huth EA | Eur J Hum Genet | 2023 | 06/09/2023 | 10.1038/s41431-023-01451-4 | ||||||||
| Translational studies | Y | 37673932 | Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return | Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. | Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7. | Huth EA | Eur J Hum Genet | 2023 | 06/09/2023 | PMC10689790 | 10.1038/s41431-023-01451-4 | |||||||
| Disease gene discoveries | Y | 37745552 | Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease | Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. | medRxiv. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. Preprint. | Martin-Geary AC | medRxiv | 2023 | 25/09/2023 | PMC10516070 | 10.1101/2023.09.12.23295416 | |||||||
| Mechanistic studies | Y | 37757828 | Influence of autozygosity on common disease risk across the phenotypic spectrum | Malawsky DS, van Walree E, Jacobs BM, Heng TH, Huang QQ, Sabir AH, Rahman S, Sharif SM, Khan A, Mirkov MU; 23andMe Research Team; Genes & Health Research Team; Kuwahara H, Gao X, Alkuraya FS, Posthuma D, Newman WG, Griffiths CJ, Mathur R, van Heel DA, Finer S, O'Connell J, Martin HC. | Cell. 2023 Oct 12;186(21):4514-4527.e14. doi: 10.1016/j.cell.2023.08.028. Epub 2023 Sep 26. | Malawsky DS | Cell | 2023 | 27/09/2023 | PMC10580289 | 10.1016/j.cell.2023.08.028 | |||||||
| Mechanistic studies | Y | 37761826 | Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice | Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. | Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. | Deltas C | Genes (Basel) | 2023 | 28/09/2023 | PMC10530214 | 10.3390/genes14091686 | |||||||
| Phenotype expansion | Y | 37773763 | The management of symptomatic hyperostotic bilateral spheno-orbital meningiomas: patient series | Harris L, Bal JS, Drosos E, Matloob S, Roberts NY, Hammerbeck-Ward C, Pathmanaban O, Evans G, King AT, Rutherford SA, Pollock J, Shoakazemi A. | J Neurosurg Case Lessons. 2023 Sep 25;6(13):CASE23179. doi: 10.3171/CASE23179. Print 2023 Sep 25. | Harris L | J Neurosurg Case Lessons | 2023 | 29/09/2023 | PMC10555579 | 10.3171/CASE23179 | |||||||
| Phenotype expansion | Y | 37794925 | Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies | Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. | Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. | Accogli A | Brain Commun | 2023 | 05/10/2023 | PMC10546953 | 10.1093/braincomms/fcad222 | |||||||
| Translational studies | Y | 37808847 | Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. | medRxiv. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. Preprint. | Ansari M | medRxiv | 2023 | 09/10/2023 | PMC10557843 | 10.1101/2023.09.27.23294269 | |||||||
| Disease gene discoveries | Y | 37827158 | Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies | Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. | Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. | Nil Z | Am J Hum Genet | 2023 | 12/10/2023 | 10.1016/j.ajhg.2023.09.009 | ||||||||
| Clinical trials | Y | 37904489 | Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials | Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C. | Clin Trials. 2023 Oct 31:17407745231203330. doi: 10.1177/17407745231203330. Online ahead of print. | Sundby RT | Clin Trials | 2023 | 31/10/2023 | 10.1177/17407745231203330 | ||||||||
| Translational studies | Y | 37904489 | Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials | Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C. | Clin Trials. 2024 Feb;21(1):40-50. doi: 10.1177/17407745231203330. Epub 2023 Oct 31. | Sundby RT | Clin Trials | 2024 | 31/10/2023 | PMC10922556 | NIHMS1930509 | 10.1177/17407745231203330 | ||||||
| Disease gene discoveries | Y | 37947183 | Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. | Genet Med. 2023 Nov 6:101023. doi: 10.1016/j.gim.2023.101023. Online ahead of print. | Jeffries L | Genet Med | 2023 | 10/11/2023 | 10.1016/j.gim.2023.101023 | ||||||||
| Translational studies | Y | 37946251 | Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases | Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. | Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. | Pagnamenta AT | Genome Med | 2023 | 10/11/2023 | PMC10636885 | 10.1186/s13073-023-01240-0 | |||||||
| Disease gene discoveries | Y | 37947183 | Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. | Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. | Jeffries L | Genet Med | 2024 | 10/11/2023 | PMC10932913 | NIHMS1960158 | 10.1016/j.gim.2023.101023 | ||||||
| Translational studies | Y | 38056891 | When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis | Sonner S, Reilly K, Woolf AS, Chandler N, Kilby MD, Maher ER, Flanagan C, McKnight AJ, Mone F. | Prenat Diagn. 2023 Dec 6. doi: 10.1002/pd.6479. Online ahead of print. | Sonner S | Prenat Diagn | 2023 | 06/12/2023 | 10.1002/pd.6479 | ||||||||
| Phenotype expansion | Y | 38053939 | Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations | Puente-Ruiz N, Ellis I, Bregu M, Chen C, Church HJ, Tylee KL, Gladston S, Hackett R, Oldham A, Virk S, Hendriksz C, Morris AAM, Jones SA, Stepien KM. | Mol Genet Metab Rep. 2023 Sep 27;37:101009. doi: 10.1016/j.ymgmr.2023.101009. eCollection 2023 Dec. | Puente-Ruiz N | Mol Genet Metab Rep | 2023 | 06/12/2023 | PMC10694746 | 10.1016/j.ymgmr.2023.101009 | |||||||
| Disease gene discoveries | Y | 38118446 | Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. | Am J Hum Genet. 2023 Dec 19:S0002-9297(23)00430-5. doi: 10.1016/j.ajhg.2023.11.012. Online ahead of print. | Salpietro V | Am J Hum Genet | 2023 | 20/12/2023 | 10.1016/j.ajhg.2023.11.012 | ||||||||
| Disease gene discoveries | Y | 38118446 | Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. | Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. | Salpietro V | Am J Hum Genet | 2024 | 20/12/2023 | PMC10806450 | 10.1016/j.ajhg.2023.11.012 | |||||||
| Disease gene discoveries | Y | 38141875 | Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype | Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium; O'Keefe RT, Kingston HM, Deshpande C, Newman WG. | Eur J Med Genet. 2023 Dec 21;67:104907. doi: 10.1016/j.ejmg.2023.104907. Online ahead of print. | Harkness JR | Eur J Med Genet | 2023 | 23/12/2023 | 10.1016/j.ejmg.2023.104907 | ||||||||
| Phenotype expansion | Y | 38141875 | Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype | Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium; O'Keefe RT, Kingston HM, Deshpande C, Newman WG. | Eur J Med Genet. 2024 Feb;67:104907. doi: 10.1016/j.ejmg.2023.104907. Epub 2023 Dec 21. | Harkness JR | Eur J Med Genet | 2024 | 23/12/2023 | PMC10918460 | 10.1016/j.ejmg.2023.104907 | |||||||
| Translational studies | Y | 38154813 | Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey | Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. | J Med Genet. 2023 Dec 22:jmg-2023-109645. doi: 10.1136/jmg-2023-109645. Online ahead of print. | Allen S | J Med Genet | 2023 | 28/12/2023 | 10.1136/jmg-2023-109645 | ||||||||
| Genetic counselling / PPIE | Y | 38177407 | Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions | Chaouch A, Ulph F, Alder J, Hamdalla H, Ealing J, Clancy T, Macleod R, Clarke AJ. | Eur J Hum Genet. 2024 Mar;32(3):260-262. doi: 10.1038/s41431-023-01520-8. Epub 2024 Jan 4. | Chaouch A | Eur J Hum Genet | 2024 | 04/01/2024 | PMC10924082 | 10.1038/s41431-023-01520-8 | |||||||
| Translational studies | Y | 38184646 | Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease | Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. | Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. | Dueñas Rey A | Genome Med | 2024 | 06/01/2024 | PMC10771650 | 10.1186/s13073-023-01277-1 | |||||||
| Translational studies | Y | 38251460 | Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases | Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. | Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. | Kerkhof J | Genet Med | 2024 | 22/01/2024 | 10.1016/j.gim.2024.101075 | ||||||||
| Translational studies | Y | 38302265 | Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis | Perez-Becerril C, Burghel GJ, Hartley C, Rowlands CF, Evans DG, Smith MJ. | J Med Genet. 2024 Apr 19;61(5):452-458. doi: 10.1136/jmg-2023-109586. | Perez-Becerril C | J Med Genet | 2024 | 01/02/2024 | 10.1136/jmg-2023-109586 | ||||||||
| Phenotype expansion | Y | 38297832 | Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features | Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. | HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. | Ansari M | HGG Adv | 2024 | 01/02/2024 | PMC10876629 | 10.1016/j.xhgg.2024.100273 | |||||||
| Disease gene discoveries | Y | 38325380 | Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt | Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. | Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. | Shepherdson JL | Am J Hum Genet | 2024 | 07/02/2024 | PMC10940019 | 10.1016/j.ajhg.2024.01.007 | |||||||
| Translational studies | Y | 38353972 | Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia | Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. | JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. | Mulder JWCM | JAMA Cardiol | 2024 | 14/02/2024 | PMC10867777 | 10.1001/jamacardio.2023.5597 | |||||||
| Disease gene discoveries | Y | 38429302 | Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies | Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. | NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. | Stegmann JD | NPJ Genom Med | 2024 | 01/03/2024 | PMC10907620 | 10.1038/s41525-024-00398-9 | |||||||
| Translational studies | Y | 38447437 | Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS) | Bashir B, Kwok S, Wierzbicki AS, Jones A, Dawson C, Downie P, Jenkinson F, Delaney H, Mansfield M, Datta D, Teoh Y, Hamilton P, Forrester N, O'Sullivan D, Ferdousi M, Durrington PN, AbdelRazik A, Gallo A, Moulin P, Soran H. | Atherosclerosis. 2024 Apr;391:117476. doi: 10.1016/j.atherosclerosis.2024.117476. Epub 2024 Feb 10. | Bashir B | Atherosclerosis | 2024 | 06/03/2024 | 10.1016/j.atherosclerosis.2024.117476 | ||||||||
| Disease gene discoveries | Y | 38458752 | Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability | Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. | J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. | Smith CEL | J Med Genet | 2024 | 08/03/2024 | 10.1136/jmg-2023-109728 | ||||||||
| Translational studies | Y | 38458124 | Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment | Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. | Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. | Wu THY | Mol Genet Metab | 2024 | 08/03/2024 | 10.1016/j.ymgme.2024.108349 | ||||||||
| Disease gene discoveries | Y | 38454547 | Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome | Faridi R, Stratton P, Salmeri N, Morell RJ, Khan AA, Usmani MA, Newman WG, Riazuddin S, Friedman TB. | Clin Genet. 2024 May;105(5):584-586. doi: 10.1111/cge.14514. Epub 2024 Mar 7. | Faridi R | Clin Genet | 2024 | 08/03/2024 | PMC10990821 | NIHMS1972179 | 10.1111/cge.14514 | ||||||
| Disease gene discoveries | 38458752 | Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability | Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. | J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. | Smith CEL | J Med Genet | 2024 | 08/03/2024 | PMC11228227 | 10.1136/jmg-2023-109728 | ||||||||
| Mechanistic studies | 38460234 | The generation and validation of a dual cardiac HAND1-Tomato NKX2-5-GFP human embryonic stem cell line UMANe002-A-3 | Lynch AT, Douglas M, Kimber SJ, Birket MJ. | Stem Cell Res. 2024 Jun;77:103342. doi: 10.1016/j.scr.2024.103342. Epub 2024 Mar 4. | Lynch AT | Stem Cell Res | 2024 | 09/03/2024 | 10.1016/j.scr.2024.103342 | |||||||||
| Translational studies | 38478259 | Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre | Evans DG, Green K, Burghel GJ, Forde C, Lalloo F, Schlecht H, Woodward ER. | Fam Cancer. 2024 Jun;23(2):187-195. doi: 10.1007/s10689-024-00360-9. Epub 2024 Mar 13. | Evans DG | Fam Cancer | 2024 | 13/03/2024 | PMC11153258 | 10.1007/s10689-024-00360-9 | ||||||||
| Phenotype expansion | Y | 38481382 | Detection of signature double-negative T cells is a predictive marker to identify autoimmune lymphoproliferative syndrome associated with FAS loss of function | Eisenhauer N, Miano M, Naumann-Bartsch N, Leyh J, Dell'Orso G, Aigner M, Fecker G, Hinze C, Wittkowski H, Bruns H, Zierk J, Metzler M, Arkwright PD, Graw F, Mackensen A, Völkl S. | Am J Hematol. 2024 May;99(5):997-1000. doi: 10.1002/ajh.27286. Epub 2024 Mar 14. | Eisenhauer N | Am J Hematol | 2024 | 14/03/2024 | 10.1002/ajh.27286 | ||||||||
| Genetic counselling / PPIE | 38511665 | The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops | Mack T, Batallones R, Morris E, Inglis A, Moldovan R, McGhee K, Zimmerman KD, Austin J. | Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32978. doi: 10.1002/ajmg.b.32978. Epub 2024 Mar 21. | Mack T | Am J Med Genet B Neuropsychiatr Genet | 2024 | 21/03/2024 | 10.1002/ajmg.b.32978 | |||||||||
| Translational studies | Y | 38535128 | Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK | Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, Wu THY, Anderson M, Ghosh A, Lemonde H, Pierre G, Sharrard M, Sreekantam S, Bonham JR. | Int J Neonatal Screen. 2024 Mar 13;10(1):24. doi: 10.3390/ijns10010024. | Carling RS | Int J Neonatal Screen | 2024 | 27/03/2024 | PMC10970767 | 10.3390/ijns10010024 | |||||||
| Phenotype expansion | Y | 38553851 | Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles | Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. | HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. | Haghshenas S | HGG Adv | 2024 | 30/03/2024 | PMC11040166 | 10.1016/j.xhgg.2024.100287 | |||||||
| Translational studies | 38553851 | Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles | Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. | HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. | Haghshenas S | HGG Adv | 2024 | 30/03/2024 | PMC11040166 | 10.1016/j.xhgg.2024.100287 | ||||||||
| Disease gene discoveries | 38579284 | Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival | Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH. | Blood. 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. | Vallée TC | Blood | 2024 | 05/04/2024 | 10.1182/blood.2023021411 | |||||||||
| Clinical trials | Y | 38587247 | Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome | Stroes ESG, Alexander VJ, Karwatowska-Prokopczuk E, Hegele RA, Arca M, Ballantyne CM, Soran H, Prohaska TA, Xia S, Ginsberg HN, Witztum JL, Tsimikas S; Balance Investigators. | N Engl J Med. 2024 May 16;390(19):1781-1792. doi: 10.1056/NEJMoa2400201. Epub 2024 Apr 7. | Stroes ESG | N Engl J Med | 2024 | 08/04/2024 | 10.1056/NEJMoa2400201 | ||||||||
| Letters/corrections | Y | 38584412 | Congenital Hyperinsulinism - Notes for the General Pediatrician | Estebanez MS, Worth C, Banerjee I. | Indian Pediatr. 2024 Apr 5:S097475591600629. Online ahead of print. | Estebanez MS | Indian Pediatr | 2024 | 08/04/2024 | |||||||||
| Translational studies | 38584412 | Congenital Hyperinsulinism - Notes for the General Pediatrician | Estebanez MS, Worth C, Banerjee I. | Indian Pediatr. 2024 Jun 15;61(6):578-584. Epub 2024 Apr 5. | Estebanez MS | Indian Pediatr | 2024 | 08/04/2024 | ||||||||||
| Phenotype expansion | Y | 38598033 | Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3 | Tsilifis C, Spegarova JS, Good R, Griffin H, Engelhardt KR, Graham S, Hughes S, Arkwright PD, Hambleton S, Gennery AR. | J Clin Immunol. 2024 Apr 10;44(4):98. doi: 10.1007/s10875-024-01699-5. | Tsilifis C | J Clin Immunol | 2024 | 10/04/2024 | PMC11006754 | 10.1007/s10875-024-01699-5 | |||||||
| Phenotype expansion | Y | 38605124 | Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements | Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. | Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01593-z. Online ahead of print. | Laver TW | Eur J Hum Genet | 2024 | 11/04/2024 | 10.1038/s41431-024-01593-z | ||||||||
| Disease gene discoveries | 38605124 | Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements | Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. | Eur J Hum Genet. 2024 Jul;32(7):813-818. doi: 10.1038/s41431-024-01593-z. Epub 2024 Apr 11. | Laver TW | Eur J Hum Genet | 2024 | 11/04/2024 | PMC11220097 | 10.1038/s41431-024-01593-z | ||||||||
| Disease gene discoveries | 38604752 | Systematic reanalysis of copy number losses of uncertain clinical significance | Burghel GJ, Ellingford JM, Wright R, Bradford L, Miller J, Watt C, Edgerley J, Naeem F, Banka S. | J Med Genet. 2024 Jun 20;61(7):621-625. doi: 10.1136/jmg-2023-109559. | Burghel GJ | J Med Genet | 2024 | 11/04/2024 | 10.1136/jmg-2023-109559 | |||||||||
| Translational studies | Y | 38616172 | Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs | McDermott JH, Sharma V, Newman WG, Wilson P, Payne K, Wright S. | Br J Clin Pharmacol. 2024 Apr 14. doi: 10.1111/bcp.16058. Online ahead of print. | McDermott JH | Br J Clin Pharmacol | 2024 | 14/04/2024 | 10.1111/bcp.16058 | ||||||||
| Disease gene discoveries | 38713105 | FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms | Monaghan RM, Naylor RW, Flatman D, Kasher PR, Williams SG, Keavney BD. | Cardiovasc Res. 2024 Sep 2;120(10):1164-1176. doi: 10.1093/cvr/cvae104. | Monaghan RM | Cardiovasc Res | 2024 | 07/05/2024 | PMC11368125 | 10.1093/cvr/cvae104 | ||||||||
| Phenotype expansion | Y | 38753439 | A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant | Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S. | J Clin Invest. 2024 May 16:e179193. doi: 10.1172/JCI179193. Online ahead of print. | Stremenova Spegarova J | J Clin Invest | 2024 | 16/05/2024 | 10.1172/JCI179193 | ||||||||
| Mechanistic studies | Y | 38751117 | DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | Trajkova S, Kerkhof J, Sebastiano MR, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. | HGG Adv. 2024 May 14:100309. doi: 10.1016/j.xhgg.2024.100309. Online ahead of print. | Trajkova S | HGG Adv | 2024 | 16/05/2024 | 10.1016/j.xhgg.2024.100309 | ||||||||
| Disease gene discoveries | 38751117 | DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. | HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15. | Trajkova S | HGG Adv | 2024 | 16/05/2024 | PMC11216013 | 10.1016/j.xhgg.2024.100309 | ||||||||
| Mechanistic studies | Y | 38758780 | Hypoxia coordinates the spatial landscape of myeloid cells within glioblastoma to affect survival | Haley MJ, Bere L, Minshull J, Georgaka S, Garcia-Martin N, Howell G, Coope DJ, Roncaroli F, King A, Wedge DC, Allan SM, Pathmanaban ON, Brough D, Couper KN. | Sci Adv. 2024 May 17;10(20):eadj3301. doi: 10.1126/sciadv.adj3301. Epub 2024 May 17. | Haley MJ | Sci Adv | 2024 | 17/05/2024 | PMC11100569 | 10.1126/sciadv.adj3301 | |||||||
| Translational studies | 38759658 | Cardiovascular outcomes in patients with homozygous familial hypercholesterolaemia on lipoprotein apheresis initiated during childhood: long-term follow-up of an international cohort from two registries | Reijman MD, Tromp TR, Hutten BA, Hovingh GK, Blom DJ, Catapano AL, Cuchel M, Dann EJ, Gallo A, Hudgins LC, Raal FJ, Ray KK, Sadiq F, Soran H, Groothoff JW, Wiegman A, Kusters DM; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators (HICC); Children with Homozygous Hypercholesterolemia on Lipoprotein Apheresis: an International Registry (CHAIN) consortia. | Lancet Child Adolesc Health. 2024 Jul;8(7):491-499. doi: 10.1016/S2352-4642(24)00073-7. Epub 2024 May 14. | Reijman MD | Lancet Child Adolesc Health | 2024 | 17/05/2024 | 10.1016/S2352-4642(24)00073-7 | |||||||||
| Translational studies | Y | 38776926 | The impact of inversions across 33,924 families with rare disease from a national genome sequencing project | Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. | Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. | Pagnamenta AT | Am J Hum Genet | 2024 | 22/05/2024 | 10.1016/j.ajhg.2024.04.018 | ||||||||
| Mechanistic studies | Y | 38788724 | Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations | Bantounas I, Rooney KM, Lopes FM, Tengku F, Woods S, Zeef LAH, Lin IH, Kuba SY, Bates N, Hummelgaard S, Hillman KA, Cereghini S, Woolf AS, Kimber SJ. | Stem Cell Reports. 2024 Jun 11;19(6):859-876. doi: 10.1016/j.stemcr.2024.04.011. Epub 2024 May 23. | Bantounas I | Stem Cell Reports | 2024 | 24/05/2024 | PMC11297557 | 10.1016/j.stemcr.2024.04.011 | |||||||
| Disease gene discoveries | Y | 38822122 | Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes | Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. | Eur J Hum Genet. 2024 Aug;32(8):998-1004. doi: 10.1038/s41431-024-01637-4. Epub 2024 May 31. | Demidov G | Eur J Hum Genet | 2024 | 31/05/2024 | PMC11291474 | 10.1038/s41431-024-01637-4 | |||||||
| Translational studies | Y | 38849599 | Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene | Andhika NS, Biswas S, Hardcastle C, Green DJ, Ramsden SC, Birney E, Black GC, Sergouniotis PI. | Eur J Hum Genet. 2024 Aug;32(8):1005-1013. doi: 10.1038/s41431-024-01638-3. Epub 2024 Jun 7. | Andhika NS | Eur J Hum Genet | 2024 | 07/06/2024 | PMC11292026 | 10.1038/s41431-024-01638-3 | |||||||
| Phenotype expansion | Y | 38852770 | Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study | Mengel E, Scarpa M, Guffon N, Jones SA, Goriya V, Msihid J, Dyevre V, Rodriguez C, Gasparic M, Nalysnyk L, Laredo F, Pulikottil-Jacob R. | Eur J Med Genet. 2024 Aug;70:104954. doi: 10.1016/j.ejmg.2024.104954. Epub 2024 Jun 8. | Mengel E | Eur J Med Genet | 2024 | 09/06/2024 | 10.1016/j.ejmg.2024.104954 | ||||||||
| Phenotype expansion | Y | 38863195 | Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity | Lin S, Robson AG, Thompson DA, Stepien KM, Lachmann R, Footitt E, Czyz O, Chandrasekhar S, Schiff E, Iosifidis C, Black GC, Michaelides M, Mahroo OA, Arno G, Webster AR. | Clin Genet. 2024 Oct;106(4):505-511. doi: 10.1111/cge.14573. Epub 2024 Jun 11. | Lin S | Clin Genet | 2024 | 12/06/2024 | PMC7616411 | EMS196839 | 10.1111/cge.14573 | ||||||
| Mechanistic studies | Y | 38884529 | Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype | Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N. | Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 17. | Sarli C | Am J Med Genet C Semin Med Genet | 2024 | 17/06/2024 | 10.1002/ajmg.c.32089 | ||||||||
| Genetic counselling / PPIE | Y | 38898203 | Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study | Parfett M, Johnson F, Bennett R, Ulph F. | Eur J Hum Genet. 2024 Sep;32(9):1159-1165. doi: 10.1038/s41431-024-01614-x. Epub 2024 Jun 19. | Parfett M | Eur J Hum Genet | 2024 | 19/06/2024 | PMC11369248 | 10.1038/s41431-024-01614-x | |||||||
| Translational studies | Y | 38898121 | Exploring the benefits, harms and costs of genomic newborn screening for rare diseases | Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z. | Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x. | Baple EL | Nat Med | 2024 | 19/06/2024 | 10.1038/s41591-024-03055-x | ||||||||
| Genetic counselling / PPIE | Y | 38903755 | Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences | Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, Leeson-Beevers K, Allen S, Baple EL, Beleza-Meireles A, Bertoli M, Campbell J, Canham N, Cilliers D, Cobben J, Eason J, Harrison V, Holder-Espinasse M, Male A, Mansour S, McEwan A, Park SM, Smith A, Stewart A, Tapon D, Vasudevan P, Williams D, Wu WH, Chitty LS, Hill M. | Front Genet. 2024 Jun 5;15:1401705. doi: 10.3389/fgene.2024.1401705. eCollection 2024. | Peter M | Front Genet | 2024 | 21/06/2024 | PMC11188373 | 10.3389/fgene.2024.1401705 | |||||||
| Clinical trials | Y | 38918870 | Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease | de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A. | Orphanet J Rare Dis. 2024 Jun 25;19(1):244. doi: 10.1186/s13023-024-03219-5. | de Castro MJ | Orphanet J Rare Dis | 2024 | 25/06/2024 | PMC11201851 | 10.1186/s13023-024-03219-5 | |||||||
| Translational studies | Y | 38925914 | NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study | Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG. | J Med Genet. 2024 Aug 29;61(9):856-860. doi: 10.1136/jmg-2024-110065. | Forde C | J Med Genet | 2024 | 26/06/2024 | 10.1136/jmg-2024-110065 | ||||||||
| Translational studies | Y | 38946936 | Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy | Ellison S, Buckland K, Learmonth Y, Day V, Kalra S, Howe L, Roman-Rodriguez FJ, Bonafont J, Booth L, Holley R, Smythe J, Jones S, Thrasher A, Booth C, Bigger BW. | Mol Ther Methods Clin Dev. 2024 May 21;32(2):101271. doi: 10.1016/j.omtm.2024.101271. eCollection 2024 Jun 13. | Ellison S | Mol Ther Methods Clin Dev | 2024 | 01/07/2024 | PMC11214401 | 10.1016/j.omtm.2024.101271 | |||||||
| Mechanistic studies | Y | 38972179 | Developing the 'omic toolkit of comparative physiologists | Ripley DM, Garner T, Stevens A. | Comp Biochem Physiol Part D Genomics Proteomics. 2024 Dec;52:101287. doi: 10.1016/j.cbd.2024.101287. Epub 2024 Jul 2. | Ripley DM | Comp Biochem Physiol Part D Genomics Proteomics | 2024 | 07/07/2024 | 10.1016/j.cbd.2024.101287 | ||||||||
| Disease gene discoveries | Y | 38991538 | De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome | Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, et al. | Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. | Chen Y | Nature | 2024 | 11/07/2024 | PMC11338827 | 10.1038/s41586-024-07773-7 | |||||||
| Mechanistic studies | Y | 38990208 | Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome | Lopes FM, Grenier C, Jarvis BW, Al Mahdy S, Lène-McKay A, Gurney AM, Newman WG, Waddington SN, Woolf AS, Roberts NA. | Elife. 2024 Jul 11;13:RP91828. doi: 10.7554/eLife.91828. | Lopes FM | Elife | 2024 | 11/07/2024 | PMC11239176 | 10.7554/eLife.91828 | |||||||
| Translational studies | 39006526 | Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases | Dhaenens BAE, Heimann G, Bakker A, Nievo M, Ferner RE, Evans DG, Wolkenstein P, Leubner J, Potratz C, Carton C, Iloeje U, Kirk G, Blakeley JO, Plotkin S, Fisher MJ, Kim A, Driever PH, Azizi AA, Widemann BC, Gross A, Parke T, Legius E, Oostenbrink R. | Neurooncol Pract. 2024 Jan 4;11(4):395-403. doi: 10.1093/nop/npae001. eCollection 2024 Aug. | Dhaenens BAE | Neurooncol Pract | 2024 | 15/07/2024 | PMC11241353 | 10.1093/nop/npae001 | ||||||||
| Disease gene discoveries | Y | 39013459 | Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, et al. | Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. | Rots D | Am J Hum Genet | 2024 | 16/07/2024 | PMC11339626 | 10.1016/j.ajhg.2024.06.009 | |||||||
| Phenotype expansion | Y | 39013458 | Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome | Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. | Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. | Rots D | Am J Hum Genet | 2024 | 16/07/2024 | PMC11339614 | 10.1016/j.ajhg.2024.06.008 | |||||||
| Translational studies | Y | 39018614 | Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses | Muenzer J, Ho C, Lau H, Dant M, Fuller M, Boulos N, Dickson P, Ellinwood NM, Jones SA, Zanelli E, O'Neill C. | Mol Genet Metab. 2024 Aug;142(4):108535. doi: 10.1016/j.ymgme.2024.108535. Epub 2024 Jul 10. | Muenzer J | Mol Genet Metab | 2024 | 17/07/2024 | 10.1016/j.ymgme.2024.108535 | ||||||||
| Phenotype expansion | Y | 39073655 | Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency | Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. | J Clin Immunol. 2024 Jul 29;44(7):167. doi: 10.1007/s10875-024-01758-x. | Utsumi T | J Clin Immunol | 2024 | 29/07/2024 | PMC11286708 | 10.1007/s10875-024-01758-x | |||||||
| Phenotype expansion | Y | 39085584 | ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome | Geilswijk M, Genuardi M, Woodward ER, Nightingale K, Huber J, Madsen MG, Liekelema-van der Heij D, Lisseman I, Marlé-Ballangé J, McCarthy C, Menko FH, Moorselaar RJAV, Radzikowska E, Richard S, Rajan N, Sommerlund M, Wetscherek MTA, Di Donato N, Maher ER, Brunet J. | Eur J Hum Genet. 2024 Jul 31. doi: 10.1038/s41431-024-01671-2. Online ahead of print. | Geilswijk M | Eur J Hum Genet | 2024 | 31/07/2024 | 10.1038/s41431-024-01671-2 | ||||||||
| Disease gene discoveries | Y | 39096152 | Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene | Morgan RD, Burghel GJ, Flaum N, Schlecht H, Clamp AR, Hasan J, Mitchell C, Salih Z, Moon S, Hogg M, Lord R, Forde C, Lalloo F, Woodward ER, Crosbie EJ, Taylor SS, Jayson GC, Evans DGR. | Genet Med. 2024 Oct;26(10):101230. doi: 10.1016/j.gim.2024.101230. Epub 2024 Jul 31. | Morgan RD | Genet Med | 2024 | 03/08/2024 | 10.1016/j.gim.2024.101230 | ||||||||
| Translational studies | Y | 39097820 | Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid | Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano EF, Valenzuela I, Sabbagh Q, Clayton-Smith J, Jackson A, O'Sullivan J, Bromley R, Banka S, Genevieve D, Sadikovic B. | Genet Med. 2024 Jul 31;26(10):101226. doi: 10.1016/j.gim.2024.101226. Online ahead of print. | Haghshenas S | Genet Med | 2024 | 04/08/2024 | 10.1016/j.gim.2024.101226 | ||||||||
| Translational studies | Y | 39107278 | Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement | LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. | Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. | LaFlamme CW | Nat Commun | 2024 | 06/08/2024 | PMC11303402 | 10.1038/s41467-024-50159-6 | |||||||
| Disease gene Discoveries | Y | 39177649 | Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease | Chandler JC, Jafree DJ, Malik S, Pomeranz G, Ball M, Kolatsi-Joannou M, Piapi A, Mason WJ, Benest AV, Bates DO, Letunovska A, Al-Saadi R, Rabant M, Boyer O, Pritchard-Jones K, Winyard PJ, Mason AS, Woolf AS, Waters AM, Long DA. | J Pathol. 2024 Oct;264(2):212-227. doi: 10.1002/path.6339. Epub 2024 Aug 23. | Chandler JC | J Pathol | 2024 | 23/08/2024 | 10.1002/path.6339 | ||||||||
| Clinical trials | Y | 39175266 | CYP2C19 genetic testing for Mavacamten and ischaemic stroke treatment: What does the result mean for cardiovascular prescribers in the UK and Europe? | Magavern EF, McDermott JH, Caulfield MJ, Newman WG. | Eur Heart J Cardiovasc Pharmacother. 2024 Oct 4;10(6):481-483. doi: 10.1093/ehjcvp/pvae040. | Magavern EF | Eur Heart J Cardiovasc Pharmacother | 2024 | 23/08/2024 | 10.1093/ehjcvp/pvae040 | ||||||||
| Translation studies | Y | 39196581 | Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies | Perrino MR, Das A, Scollon SR, Mitchell SG, Greer MC, Yohe ME, Hansford JR, Kalish JM, Schultz KAP, MacFarland SP, Kohlmann WK, Lupo PJ, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Jongmans MCJ, Tomlinson GE, Brzezinski J, Tabori U, Ney GM, Gripp KW, Gross AM, Widemann BC, Stewart DR, Woodward ER, Kratz CP. | Clin Cancer Res. 2024 Aug 28. doi: 10.1158/1078-0432.CCR-24-1611. Online ahead of print. | Perrino MR | Clin Cancer Res | 2024 | 28/08/2024 | 10.1158/1078-0432.CCR-24-1611 | ||||||||
| Disease gene Discoveries | Y | 39196411 | Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation | Triaille C, Rao NM, Rice GI, Seabra L, Sutherland FJH, Bondet V, Duffy D, Gennery AR, Fournier B, Bader-Meunier B, Troedson C, Cleary G, Buso H, Dalby-Payne J, Ranade P, Jansen K, De Somer L, Frémond ML, Chavan PP, Wong M, Dale RC, Wouters C, Quartier P, Khubchandani R, Crow YJ. | J Clin Immunol. 2024 Aug 28;44(8):185. doi: 10.1007/s10875-024-01788-5. | Triaille C | J Clin Immunol | 2024 | 28/08/2024 | PMC11358312 | 10.1007/s10875-024-01788-5 | |||||||
| Disease gene discoveries | Y | 39209702 | Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis | Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. | J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. | Smith MJ | J Med Genet | 2024 | 29/08/2024 | 10.1136/jmg-2024-110217 | ||||||||
| Phenotype expansion | Y | 39234690 | Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry | Bashir B, Downie P, Forrester N, Wierzbicki AS, Dawson C, Jones A, Jenkinson F, Mansfield M, Datta D, Delaney H, Teoh Y, Hamilton P, Ferdousi M, Kwok S, O'Sullivan D, Wang J, Hegele RA, Durrington PN, Soran H. | Arterioscler Thromb Vasc Biol. 2024 Nov;44(11):2334-2346. doi: 10.1161/ATVBAHA.124.320955. Epub 2024 Sep 5. | Bashir B | Arterioscler Thromb Vasc Biol | 2024 | 05/09/2024 | PMC11495541 | 10.1161/ATVBAHA.124.320955 | |||||||
| Translation studies | Y | 39284109 | Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia | Schönecker S, Martinez-Murcia FJ, Denecke J, Franzmeier N, Danek A, Wagemann O, Prix C, Wlasich E, Vöglein J, Loosli SV, Brauer A, Górriz Sáez JM, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rohrer JD; Genetic Frontotemporal Dementia Initiative (GENFI); Priller J, Höglinger GU, Levin J. | Neurology. 2024 Oct 22;103(8):e209569. doi: 10.1212/WNL.0000000000209569. Epub 2024 Sep 16. | Schönecker S | Neurology | 2024 | 16/09/2024 | PMC11399068 | 10.1212/WNL.0000000000209569 | |||||||
| Disease gene Discoveries | Y | 39349469 | The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism | Green DJ, Michaud V, Lasseaux E, Plaisant C; UK Biobank Eye and Vision Consortium; Fitzgerald T, Birney E, Black GC, Arveiler B, Sergouniotis PI. | Nat Commun. 2024 Sep 30;15(1):8436. doi: 10.1038/s41467-024-52763-y. | Green DJ | Nat Commun | 2024 | 30/09/2024 | PMC11443028 | 10.1038/s41467-024-52763-y | |||||||
| Phenotype expansion | Y | 39349776 | Detection of Alport gene variants in children and young people with persistent haematuria | Ng NSL, Yamamura T, Shenoy M, Stuart HM, Lennon R. | Pediatr Nephrol. 2024 Oct 1. doi: 10.1007/s00467-024-06538-8. Online ahead of print. | Ng NSL | Pediatr Nephrol | 2024 | 30/09/2024 | 10.1007/s00467-024-06538-8 | ||||||||
| Translation studies | Y | 39358598 | Standardizing variant naming in literature with VariantValidator to increase diagnostic rates | Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R. | Nat Genet. 2024 Oct 2. doi: 10.1038/s41588-024-01938-w. Online ahead of print. | Freeman PJ | Nat Genet | 2024 | 02/10/2024 | 10.1038/s41588-024-01938-w | ||||||||
| Clinical trials | Y | 39358605 | Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47 | Wiseman JP, Scarrott JM, Alves-Cruzeiro J, Saffari A, Böger C, Karyka E, Dawes E, Davies AK, Marchi PM, Graves E, Fernandes F, Yang ZL, Coldicott I, Hirst J, Webster CP, Highley JR, Hackett N, Angyal A, Silva T, Higginbottom A, Shaw PJ, Ferraiuolo L, Ebrahimi-Fakhari D, Azzouz M. | EMBO Mol Med. 2024 Nov;16(11):2882-2917. doi: 10.1038/s44321-024-00148-5. Epub 2024 Oct 2. | Wiseman JP | EMBO Mol Med | 2024 | 02/10/2024 | PMC11554807 | 10.1038/s44321-024-00148-5 | |||||||
| Mechanistic studies | Y | 39403923 | Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation | Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. | J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. | Bohlen J | J Clin Invest | 2024 | 15/10/2024 | PMC11475086 | 10.1172/JCI181604 | |||||||
| Phenotype expansion | Y | 39447557 | Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome | Malhotra N, Hanania T, Yau D, Gilbert C, Morgan K, Wakeling E, Jones WD, Samuels M, Banerjee I, Dastamani A. | Horm Res Paediatr. 2024 Oct 24:1-9. doi: 10.1159/000542234. Online ahead of print. | Malhotra N | Horm Res Paediatr | 2024 | 24/10/2024 | 10.1159/000542234 | ||||||||
| Phenotype expansion | Y | 39448799 | BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. | Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. | Peron A | Eur J Hum Genet | 2024 | 25/10/2024 | 10.1038/s41431-024-01701-z | ||||||||
| Clinical trials | Y | 39470951 | Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party | Buso H, Adam E, Arkwright PD, Bhattad S, Hamidieh AA, Behfar M, Belot A, Benezech S, Chan AY, Crow YJ, Dvorak CC, Flinn AM, Kapoor U, Lankester A, Kobayashi M, Matsumura R, Mottaghipisheh H, Okada S, Ouachee M, Parvaneh N, Ramprakash S, Satwani P, Sharafian S, Triaille C, Wynn RF, Movahedi N, Ziaee V, Williams E, Slatter M, Gennery AR. | J Clin Immunol. 2024 Oct 29;45(1):35. doi: 10.1007/s10875-024-01819-1. | Buso H | J Clin Immunol | 2024 | 29/10/2024 | PMC11522153 | 10.1007/s10875-024-01819-1 | |||||||
| Letters/corrections | Y | 39472695 | Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates | Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R. | Nat Genet. 2024 Nov;56(11):2574. doi: 10.1038/s41588-024-02001-4. | Freeman PJ | Nat Genet | 2024 | 30/10/2024 | 10.1038/s41588-024-02001-4 | ||||||||
| Mechanistic studies | Y | 39484448 | Integrin alpha1 beta1 promotes interstitial fibrosis in a mouse model of polycystic kidney disease | Grenier C, Lin IH, Peters D, Pozzi A, Lennon R, Naylor RW. | bioRxiv [Preprint]. 2024 Oct 21:2024.10.18.619080. doi: 10.1101/2024.10.18.619080. | Grenier C | bioRxiv | 2024 | 01/11/2024 | PMC11526950 | 10.1101/2024.10.18.619080 | |||||||
| Mechanistic studies | Y | 39489894 | Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK) | Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. | Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. | Garrett A | Genet Med | 2024 | 03/11/2024 | 10.1016/j.gim.2024.101305 | ||||||||
| Genetic counselling / PPIE | Y | 39496896 | "I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project | Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, Harrison R, Hawkes L, Jones EA, Kraus A, McEntagart M, Somarathi S, Taylor A, Tripathi V, Chitty LS, Hill M. | Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01716-6. Online ahead of print. | Stafford-Smith B | Eur J Hum Genet | 2024 | 04/11/2024 | 10.1038/s41431-024-01716-6 | ||||||||
| Genetic counselling / PPIE | Y | 39501102 | Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members | Howard J, Chaouch A, Douglas AGL, MacLeod R, Roggenbuck J, McNeill A. | Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01718-4. Online ahead of print. | Howard J | Eur J Hum Genet | 2024 | 05/11/2024 | 10.1038/s41431-024-01718-4 | ||||||||
| Mechanistic studies | Y | 39515644 | The glomerular circadian clock temporally regulates basement membrane dynamics and the podocyte glucocorticoid response | Preston R, Chrisp R, Dudek M, Morais MRPT, Tian P, Williams E, Naylor RW, Davenport B, Pathiranage DRJ, Benson E, Spiller DG, Bagnall J, Zeef L, Lawless C, Baker SM, Meng QJ, Lennon R. | Kidney Int. 2025 Jan;107(1):99-115. doi: 10.1016/j.kint.2024.10.016. Epub 2024 Nov 6. | Preston R | Kidney Int | 2025 | 08/11/2024 | 10.1016/j.kint.2024.10.016 | ||||||||
| Genetic counselling / PPIE | Y | 39540884 | Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex | Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR. | Clin Cancer Res. 2024 Nov 14. doi: 10.1158/1078-0432.CCR-24-1947. Online ahead of print. | Schultz KAP | Clin Cancer Res | 2024 | 14/11/2024 | 10.1158/1078-0432.CCR-24-1947 | ||||||||
| Phenotype expansion | Y | 39547427 | Retinopathy in Mucopolysaccharidoses | Noor M, Mehana O, de la Mata G, Aslam T, Parry N, McGrath O, Sornalingam K, Ghosh A, Jones S, Ashworth J. | Ophthalmology. 2024 Nov 13:S0161-6420(24)00720-6. doi: 10.1016/j.ophtha.2024.11.013. Online ahead of print. | Noor M | Ophthalmology | 2024 | 15/11/2024 | 10.1016/j.ophtha.2024.11.013 | ||||||||
| Phenotype expansion | Y | 39564699 | Continuous Glucose Monitoring-Derived Glycemic Phenotyping of Childhood Hypoglycemia due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study | Worth C, Auckburally S, Worthington S, Ahmad S, O'Shea E, Senniappan S, Shaikh G, Dastamani A, Ferrara-Cook C, Betz S, Salomon-Estebanez M, Banerjee I. | J Diabetes Sci Technol. 2024 Nov 20:19322968241255842. doi: 10.1177/19322968241255842. Online ahead of print. | Worth C | J Diabetes Sci Technol | 2024 | 20/11/2024 | PMC11577547 | 10.1177/19322968241255842 | |||||||
| Disease gene discoveries | Y | 39574879 | Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder | Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. | medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. | Maroni MJ | medRxiv | 2024 | 22/11/2024 | PMC11581099 | 10.1101/2024.10.31.24314716 | |||||||
| Mechanistic studies | Y | 39587356 | Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project | Hartill V, Kabir M, Best S, Shaikh Qureshi WM, Baross SL, Lord J, Yu J, Sasaki E, Needham H, Shears D, Roche M, Wall E, Cooper N, Ryan G, Eason J, Johnson R, Keavney B, Hentges KE, Johnson CA. | Eur J Hum Genet. 2024 Nov 26. doi: 10.1038/s41431-024-01744-2. Online ahead of print. | Hartill V | Eur J Hum Genet | 2024 | 26/11/2024 | 10.1038/s41431-024-01744-2 | ||||||||
| Translational studies | Y | 39601780 | Update on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes | Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, MacFarland SP, Scollon SR, Greer MC, Sobreira N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR. | Clin Cancer Res. 2024 Nov 27. doi: 10.1158/1078-0432.CCR-24-2171. Online ahead of print. | Michaeli O | Clin Cancer Res | 2024 | 27/11/2024 | 10.1158/1078-0432.CCR-24-2171 | ||||||||
| Translational studies | Y | 39608663 | Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions | Ciuca A, Banka S, Clancy T, Jones S, Kirkham JJ, Newman WG, Payne K, Moldovan R. | J Clin Epidemiol. 2024 Nov 26;178:111617. doi: 10.1016/j.jclinepi.2024.111617. Online ahead of print. | Ciuca A | J Clin Epidemiol | 2024 | 28/11/2024 | 10.1016/j.jclinepi.2024.111617 | ||||||||
| Mechanistic studies | Y | 39622295 | Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells | Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. | J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. | Rao G | J Allergy Clin Immunol | 2024 | 02/12/2024 | 10.1016/j.jaci.2024.11.031 | ||||||||
| Clinical trials | Y | 39630935 | Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial | Crow YJ, Briggs TA, Eleftheriou D, Parida A, Battison C, Giddings A, Kennel T, Parker RA; AGS‐RTIs Study Group. | Dev Med Child Neurol. 2024 Dec 4:10.1111/dmcn.16199. doi: 10.1111/dmcn.16199. Online ahead of print. | Crow YJ | Dev Med Child Neurol | 2024 | 04/12/2024 | PMC7617231 | EMS201699 | 10.1111/dmcn.16199 | ||||||
| Translational studies | Y | 39648759 | Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene | Mcneill A, Douglas AGL, Macleod R, Lahiri N; UK PREDICTIVE NEUROGENETICS TESTING CONSORTIUM. | Amyotroph Lateral Scler Frontotemporal Degener. 2024 Dec 9:1-2. doi: 10.1080/21678421.2024.2438153. Online ahead of print. | Mcneill A | Amyotroph Lateral Scler Frontotemporal Degener | 2024 | 09/12/2024 | 10.1080/21678421.2024.2438153 | ||||||||
| Genetic counselling / PPIE | Y | 39673454 | Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN | Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. | Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. | Torra R | Nephrol Dial Transplant | 2024 | 14/12/2024 | 10.1093/ndt/gfae265 | ||||||||
| Mechanistic studies | Y | 39695102 | Tumor- and host-derived heparanase-2 (Hpa2) attenuates tumorigenicity: role of Hpa2 in macrophage polarization and BRD7 nuclear localization | Soboh S, Vorontsova A, Farhoud M, Barash U, Naroditsky I, Gross-Cohen M, Weissmann M, Yasuhiko N, Woolf AS, Roberts NA, Shaked Y, Ilan N, Vlodavsky I. | Cell Death Dis. 2024 Dec 18;15(12):894. doi: 10.1038/s41419-024-07262-9. | Soboh S | Cell Death Dis | 2024 | 18/12/2024 | PMC11655850 | 10.1038/s41419-024-07262-9 | |||||||
| Phenotype expansion | Y | 39692517 | Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder | Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. | Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. | Aughey GN | Brain | 2024 | 18/12/2024 | 10.1093/brain/awae363 | ||||||||
| Phenotype expansion | Y | 39701600 | Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome | Cuvertino S, Garner T, Martirosian E, Walusimbi B, Kimber SJ, Banka S, Stevens A. | Brief Bioinform. 2024 Nov 22;26(1):bbae667. doi: 10.1093/bib/bbae667. | Cuvertino S | Brief Bioinform | 2024 | 19/12/2024 | PMC11658816 | 10.1093/bib/bbae667 | |||||||
| Mechanistic studies | Y | 39701103 | Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype | Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. | Smith TB | Am J Hum Genet | 2025 | 19/12/2024 | 10.1016/j.ajhg.2024.11.007 | ||||||||
| Disease gene discoveries | Y | 38713105 | FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms | Monaghan RM, Naylor RW, Flatman D, Kasher PR, Williams SG, Keavney BD. | Cardiovasc Res. 2024 Sep 2;120(10):1164-1176. doi: 10.1093/cvr/cvae104. | Monaghan RM | Cardiovasc Res | 2024 | 07/05/2024 | PMC11368125 | 10.1093/cvr/cvae104 | |||||||
| Mechanistic studies | Y | 40140675 | Spatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannoma | Jones AP, Haley MJ, Meadows MH, Gregory GE, Hannan CJ, Simmons AK, Bere LD, Lewis DG, Oliveira P, Smith MJ, King AT, Evans DGR, Paszek P, Brough D, Pathmanaban ON, Couper KN. | Nat Commun. 2025 Mar 26;16(1):2944. doi: 10.1038/s41467-025-57586-z. | Jones AP | Nat Commun | 2025 | 27/03/2025 | PMC11947219 | 10.1038/s41467-025-57586-z | |||||||
| Phenotype expansion | Y | 40123672 | Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation | Beaman GM, Jarvis BW, Goyal A, Keene DJB, Cervellione M, Lopes FM, Metcalfe KA, Woolf AS, Newman WG. | Front Pediatr. 2025 Mar 7;13:1534192. doi: 10.3389/fped.2025.1534192. eCollection 2025. | Beaman GM | Front Pediatr | 2025 | 24/03/2025 | PMC11925934 | 10.3389/fped.2025.1534192 | |||||||
| Clinical trials | Y | 40121797 | Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B | Selvanathan A, Kankananarachchi I, Bansal S, Fitzpatrick E, Lemonde H, Turner C, Fairbanks L, White FJ, Dhawan A, Schwahn BC. | Mol Genet Metab. 2025 May;145(1):109079. doi: 10.1016/j.ymgme.2025.109079. Epub 2025 Mar 13. | Selvanathan A | Mol Genet Metab | 2025 | 23/03/2025 | 10.1016/j.ymgme.2025.109079 | ||||||||
| Phenotype expansion | Y | 40087579 | Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 | Begum-Ali J, Mason L, Charman T, Johnson MH, Green J, Garg S, Jones EJH; and the STAARS and EDEN Teams. | J Neurodev Disord. 2025 Mar 14;17(1):12. doi: 10.1186/s11689-025-09599-4. | Begum-Ali J | J Neurodev Disord | 2025 | 15/03/2025 | PMC11907931 | 10.1186/s11689-025-09599-4 | |||||||
| Disease gene discoveries | Y | 40043708 | Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency | Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. | Thomas HB | Am J Hum Genet | 2025 | 05/03/2025 | 10.1016/j.ajhg.2025.02.005 | ||||||||
| Disease gene discoveries | Y | 40033430 | Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity | Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M; International Congenital Hyperinsulinism Consortium; Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE. | Genome Med. 2025 Mar 3;17(1):17. doi: 10.1186/s13073-025-01440-w. | Bennett JJ | Genome Med | 2025 | 03/03/2025 | PMC11874398 | 10.1186/s13073-025-01440-w | |||||||
| Phenotype expansion | Y | 40011961 | Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities | Dempsey J, Daniels J, Katiri R, Thomas S, Metryka A, de Kruijf M, Wilkinson S, Jones SA, Bruce IA. | Orphanet J Rare Dis. 2025 Feb 26;20(1):88. doi: 10.1186/s13023-025-03581-y. | Dempsey J | Orphanet J Rare Dis | 2025 | 26/02/2025 | PMC11866613 | 10.1186/s13023-025-03581-y | |||||||
| Translational studies | Y | 40011789 | Rare disease gene association discovery in the 100,000 Genomes Project | Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. | Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. | Cipriani V | Nature | 2025 | 26/02/2025 | 10.1038/s41586-025-08623-w | ||||||||
| Phenotype expansion | Y | 39986310 | Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series | Zhu G, Didry-Barca B, Seabra L, Rice GI, Uggenti C, Touimy M, Rodero MP, Trapero RH, Bondet V, Duffy D, Gautier P, Livingstone K, Sutherland FJH, Lebon P, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Nitschké P, Anderson G, Assmann B, Barth M, Boespflug-Tanguy O, D'Arco F, Dorboz I, Giese T, Hacohen Y, Hancarova M, Husson M, Lepine A, Lim M, Mancardi MM, Melki I, Neubauer D, Sa M, Sedlacek Z, Seitz A, Rottman MS, Sanquer S, Straussberg R, Vlčková M, Villéga F, Wagner M, Zerem A, Marsh JA, Frémond ML, Kaliakatsos M, Crow YJ, El-Daher MT, Lepelley A. | Lancet Neurol. 2025 Mar;24(3):218-229. doi: 10.1016/S1474-4422(24)00526-X. | Zhu G | Lancet Neurol | 2025 | 22/02/2025 | PMC7617446 | EMS203526 | 10.1016/S1474-4422(24)00526-X | ||||||
| Translational studies | Y | 39900645 | Real-world outcomes of Voretigene Neparvovec: a single-centre consecutive case series | Jalil A, Ferrara M, Lippera M, Parry N, Black GC, Banderas S, Ashworth J, Biswas S, Hall G, Gray J, Newman W, Ivanova T. | Eye (Lond). 2025 May;39(7):1356-1363. doi: 10.1038/s41433-025-03637-0. Epub 2025 Feb 3. | Jalil A | Eye (Lond) | 2025 | 03/02/2025 | PMC12043895 | 10.1038/s41433-025-03637-0 | |||||||
| Mechanistic studies | Y | 39892393 | Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 | Gardner JC, Jovanovic K, Ottaviani D, Melo US, Jackson J, Guarascio R, Ziaka K, Hau KL, Lane A, Taylor RL, Chai N, Gkertsou C, Fernando O, Piwecka M, Georgiou M, Mundlos S, Black GC, Moore AT, Michaelides M, Cheetham ME, Hardcastle AJ. | Am J Hum Genet. 2025 Mar 6;112(3):523-536. doi: 10.1016/j.ajhg.2025.01.007. Epub 2025 Jan 31. | Gardner JC | Am J Hum Genet | 2025 | 01/02/2025 | PMC11947168 | 10.1016/j.ajhg.2025.01.007 | |||||||
| Translational studies | Y | 39849512 | Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences | Møller P, Ahadova A, Kloor M, Seppälä TT, Burn J, Haupt S, Macrae F, Dominguez-Valentin M, Möslein G, Lindblom A, Sunde L, Winship I, Capella G, Monahan K, Buchanan DD, Evans DG, Hovig E, Sampson JR. | Hered Cancer Clin Pract. 2025 Jan 23;23(1):3. doi: 10.1186/s13053-025-00305-y. | Møller P | Hered Cancer Clin Pract | 2025 | 24/01/2025 | PMC11755794 | 10.1186/s13053-025-00305-y | |||||||
| Disease gene discoveries | Y | 39830270 | De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa | Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, et al. | medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. | Quinodoz M | medRxiv | 2025 | 20/01/2025 | PMC11741465 | 10.1101/2025.01.06.24317169 | |||||||
| Translational studies | Y | 39825153 | Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, et al. | Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. | Laurie S | Nat Med | 2025 | 17/01/2025 | PMC11835725 | 10.1038/s41591-024-03420-w | |||||||
| Mechanistic studies | Y | 39798569 | DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders | Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. | Am J Hum Genet. 2025 Feb 6;112(2):394-413. doi: 10.1016/j.ajhg.2024.12.012. Epub 2025 Jan 10. | Lessel I | Am J Hum Genet | 2025 | 11/01/2025 | PMC11866971 | 10.1016/j.ajhg.2024.12.012 | |||||||
| Translational studies | Y | 39774103 | Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals | Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ. | Hepatol Commun. 2025 Jan 7;9(1):e0621. doi: 10.1097/HC9.0000000000000621. eCollection 2025 Jan 1. | Mistry PK | Hepatol Commun | 2025 | 08/01/2025 | PMC11717527 | 10.1097/HC9.0000000000000621 | |||||||
| Clinical trials | Y | 39762600 | Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency | Walsh RB, McNaughton P, Nademi Z, Laberko A, Balashov D, Al-Mousa H, Arkwright PD, Wynn RF, Flood T, Williams E, Cant A, Abinun M, Hambleton S, Slatter M, Gennery AR, Lum SH, Owens S. | J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007/s10875-024-01850-2. | Walsh RB | J Clin Immunol | 2025 | 06/01/2025 | PMC11703983 | 10.1007/s10875-024-01850-2 | |||||||
| Disease gene discoveries | Y | 39701103 | Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype | Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. | Smith TB | Am J Hum Genet | 2025 | 19/12/2024 | PMC11739875 | 10.1016/j.ajhg.2024.11.007 | |||||||
| Genetic counselling / PPIE | Y | 39608663 | Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions | Ciuca A, Banka S, Clancy T, Jones S, Kirkham JJ, Newman WG, Payne K, Moldovan R. | J Clin Epidemiol. 2025 Feb;178:111617. doi: 10.1016/j.jclinepi.2024.111617. Epub 2024 Nov 26. | Ciuca A | J Clin Epidemiol | 2025 | 28/11/2024 | 10.1016/j.jclinepi.2024.111617 | ||||||||
| Genetic counselling / PPIE | Y | 39601780 | Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes | Michaeli O, Kim SY, Mitchell SG, Jongmans MCJ, Wasserman JD, Perrino MR, Das A, MacFarland SP, Scollon SR, Greer MC, Sobreira N, Gallinger B, Lupo PJ, Malkin D, Schneider KW, Schultz KAP, Foulkes WD, Woodward ER, Stewart DR. | Clin Cancer Res. 2025 Feb 3;31(3):457-465. doi: 10.1158/1078-0432.CCR-24-2171. | Michaeli O | Clin Cancer Res | 2025 | 27/11/2024 | PMC11790369 | NIHMS2038923 | 10.1158/1078-0432.CCR-24-2171 | ||||||
| Translational studies | Y | 39540884 | Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex | Schultz KAP, MacFarland SP, Perrino MR, Mitchell SG, Kamihara J, Nelson AT, Mallinger PHR, Brzezinski JJ, Maxwell KN, Woodward ER, Gallinger B, Kim SY, Greer MC, Schneider KW, Scollon SR, Das A, Wasserman JD, Eng C, Malkin D, Foulkes WD, Michaeli O, Bauer AJ, Stewart DR. | Clin Cancer Res. 2025 Jan 17;31(2):234-244. doi: 10.1158/1078-0432.CCR-24-1947. | Schultz KAP | Clin Cancer Res | 2025 | 14/11/2024 | PMC11747828 | NIHMS2035696 | 10.1158/1078-0432.CCR-24-1947 | ||||||
| Phenotype expansion | Y | 39448799 | BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. | Eur J Hum Genet. 2025 Mar;33(3):312-324. doi: 10.1038/s41431-024-01701-z. Epub 2024 Oct 24. | Peron A | Eur J Hum Genet | 2025 | 25/10/2024 | PMC11893779 | 10.1038/s41431-024-01701-z | |||||||
| Phenotype expansion | Y | 39287049 | Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion | Hau A, Baxter A, Chandler K, Fennell A, Hsieh TC, Krawitz PM, Pinner J, Goel H. | Am J Med Genet A. 2025 Feb;197(2):e63856. doi: 10.1002/ajmg.a.63856. Epub 2024 Sep 17. | Hau A | Am J Med Genet A | 2025 | 17/09/2024 | 10.1002/ajmg.a.63856 | ||||||||
| Phenotype expansion | Y | 39547427 | Retinopathy in Mucopolysaccharidoses | Noor M, Mehana O, Mata G, Aslam T, Parry N, McGrath O, Sornalingam K, Ghosh A, Jones S, Ashworth J. | Ophthalmology. 2025 Apr;132(4):461-475. doi: 10.1016/j.ophtha.2024.11.013. Epub 2024 Nov 14. | Noor M | Ophthalmology | 2025 | 15/11/2024 | 10.1016/j.ophtha.2024.11.013 | ||||||||
| Phenotype expansion | Y | 25254289 | Perrault Syndrome Overview | Li T, Faridi R, Newman WG, Friedman TB. | 2014 Sep 25 [updated 2025 May 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. | Li T | GeneReviews(®) | 1993 | 08/05/2025 | |||||||||
| Genetic counselling / PPIE | Y | 40072304 | Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome | Achatz MI, Villani A, Bertuch AA, Bougeard G, Chang VY, Doria AS, Gallinger B, Godley LA, Greer MC, Kamihara J, Khincha PP, Kohlmann WK, Kratz CP, MacFarland SP, Maese LD, Maxwell KN, Mitchell SG, Nakano Y, Pfister SM, Wasserman JD, Woodward ER, Garber JE, Malkin D. | Clin Cancer Res. 2025 May 15;31(10):1831-1840. doi: 10.1158/1078-0432.CCR-24-3301. | Achatz MI | Clin Cancer Res | 2025 | 12/03/2025 | 10.1158/1078-0432.CCR-24-3301 | ||||||||
| Translational studies | Y | 39673454 | Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN | Torra R, Lipska-Zietkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gear S, Gross O, Haeberle S, Heidet L, Lennon R, Massella L, Pfau K, Pizarro MDPV, Topaloglu R, Wlodkowski T, Zealey H; ERKNet, ERA Genes&Kidney and ESPN Inherited renal disorders working group. | Nephrol Dial Transplant. 2025 May 30;40(6):1091-1106. doi: 10.1093/ndt/gfae265. | Torra R | Nephrol Dial Transplant | 2025 | 14/12/2024 | 10.1093/ndt/gfae265 | ||||||||
| Disease gene discoveries | Y | 40442284 | Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes | Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. | Nat Genet. 2025 Jun;57(6):1362-1366. doi: 10.1038/s41588-025-02209-y. Epub 2025 May 29. | Jackson A | Nat Genet | 2025 | 29/05/2025 | PMC12165836 | 10.1038/s41588-025-02209-y | |||||||
| Phenotype expansion | Y | 39692517 | Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder | Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M, Shervin Badv R, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler KE, Kershaw CJ, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. | Brain. 2025 Apr 3;148(4):1194-1211. doi: 10.1093/brain/awae363. | Aughey GN | Brain | 2025 | 18/12/2024 | PMC11967543 | 10.1093/brain/awae363 | |||||||
| Translational studies | Y | 39937237 | Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis | Perrino MR, Jongmans MCJ, Tomlinson GE, Greer MC, Scollon SR, Mitchell SG, Hansford JR, Schultz KAP, Kohlmann WK, Kalish JM, MacFarland SP, Das A, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Tabori U, Ney GM, Lupo PJ, Brzezinski JJ, Stewart DR, Woodward ER, Kratz CP. | Clin Cancer Res. 2025 Apr 14;31(8):1400-1406. doi: 10.1158/1078-0432.CCR-24-3278. | Perrino MR | Clin Cancer Res | 2025 | 12/02/2025 | PMC12002630 | NIHMS2056615 | 10.1158/1078-0432.CCR-24-3278 | ||||||
| Clinical trials | Y | 39630935 | Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial | Crow YJ, Briggs TA, Eleftheriou D, Parida A, Battison C, Giddings A, Kennel T, Parker RA; AGS‐RTIs Study Group. | Dev Med Child Neurol. 2025 Jun;67(6):750-757. doi: 10.1111/dmcn.16199. Epub 2024 Dec 4. | Crow YJ | Dev Med Child Neurol | 2025 | 04/12/2024 | PMC7617231 | EMS201699 | 10.1111/dmcn.16199 | ||||||
| Mechanistic studies | Y | 40324206 | Systematic and comprehensive analysis of major localizations of alpha-dystroglycan-specific modifying enzymes | Aso S, Lowe M, Mori K, Ninagawa S. | Glycobiology. 2025 Jun 2;35(7):cwaf027. doi: 10.1093/glycob/cwaf027. | Aso S | Glycobiology | 2025 | 05/05/2025 | 10.1093/glycob/cwaf027 | ||||||||
| Mechanistic studies | Y | 39622295 | Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells | Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. | J Allergy Clin Immunol. 2025 Apr;155(4):1161-1178. doi: 10.1016/j.jaci.2024.11.031. Epub 2024 Nov 30. | Rao G | J Allergy Clin Immunol | 2025 | 02/12/2024 | PMC11972900 | NIHMS2039406 | 10.1016/j.jaci.2024.11.031 | ||||||
| Disease gene discoveries | Y | 40494548 | Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder | Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. | Brain. 2025 Jun 11:awaf212. doi: 10.1093/brain/awaf212. Online ahead of print. | Maroni MJ | Brain | 2025 | 10/06/2025 | 10.1093/brain/awaf212 | ||||||||
| Translational studies | Y | 40466321 | Gene therapy in neuronopathic lysosomal storage disorders | Donald A, Horgan C, De Castro Lopez MJ, Jones SA, Wynn RF. | Eur J Paediatr Neurol. 2025 May 28;57:41-49. doi: 10.1016/j.ejpn.2025.05.010. Online ahead of print. | Donald A | Eur J Paediatr Neurol | 2025 | 04/06/2025 | 10.1016/j.ejpn.2025.05.010 | ||||||||
| Translational studies | Y | 40350252 | UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants | Tsoulaki O, Evans DG, Sinha K, Rajan N, Bakr F, Hatcher H, Napolitano A, Finn E, Iyengar S, Sohaib A, Sadler TJ, Forde C, Woodward ER, McVeigh TP, Tischkowitz M, Lalloo F, Hanson H. | J Med Genet. 2025 Jun 5:jmg-2025-110638. doi: 10.1136/jmg-2025-110638. Online ahead of print. | Tsoulaki O | J Med Genet | 2025 | 11/05/2025 | 10.1136/jmg-2025-110638 | ||||||||
| Disease gene discoveries | Y | 40043708 | Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency | Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. | Thomas HB | Am J Hum Genet | 2025 | 05/03/2025 | PMC12081275 | 10.1016/j.ajhg.2025.02.005 | |||||||
| Mechanistic studies | Y | 40368919 | Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin | Woodward BL, Lahiri S, Chauhan AS, Garcia MR, Goodley LE, Clarke TL, Pal M, Agathanggelou A, Jhujh SS, Ganesh AN, Hollins FM, Deforie VG, Maroofian R, Efthymiou S, Meinhardt A, Mathew CG, Simpson MA, Mefford HC, Faqeih EA, Rosenzweig SD, Volpi S, Di Matteo G, Cancrini C, Scardamaglia A, Shackley F, Davies EG, Ibrahim S, Arkwright PD, Zaki MS, Stankovic T, Taylor AMR, Mazur AJ, Di Donato N, Houlden H, Rothenberg E, Stewart GS. | Nat Commun. 2025 May 14;16(1):4491. doi: 10.1038/s41467-025-59553-0. | Woodward BL | Nat Commun | 2025 | 14/05/2025 | PMC12078678 | 10.1038/s41467-025-59553-0 | |||||||
| Translational studies | Y | 40577679 | Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions | Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI. | Neurology. 2025 Jul 22;105(2):e213817. doi: 10.1212/WNL.0000000000213817. Epub 2025 Jun 27. | Asbreuk MABC | Neurology | 2025 | 27/06/2025 | PMC12205745 | 10.1212/WNL.0000000000213817 | |||||||
| Translational studies | Y | 40313258 | Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina | Sampson J, Segrè AV, Bujakowska KM, Haynes S, Baralle D, Banka S, Black GC, Sergouniotis PI, Ellingford JM. | medRxiv [Preprint]. 2025 Apr 26:2025.04.25.25326445. doi: 10.1101/2025.04.25.25326445. | Sampson J | medRxiv | 2025 | 02/05/2025 | PMC12045431 | 10.1101/2025.04.25.25326445 | |||||||
| Disease gene discoveries | Y | 40229884 | Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease | Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Dong S, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Candler T, Firth H, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. | Genome Med. 2025 Apr 14;17(1):40. doi: 10.1186/s13073-025-01464-2. | Martin-Geary AC | Genome Med | 2025 | 14/04/2025 | PMC11998461 | 10.1186/s13073-025-01464-2 | |||||||
| Translational studies | Y | 39252529 | Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II | Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. | J Inherit Metab Dis. 2025 May;48(3):e12790. doi: 10.1002/jimd.12790. Epub 2024 Sep 9. | Muenzer J | J Inherit Metab Dis | 2025 | 10/09/2024 | PMC12041835 | 10.1002/jimd.12790 | |||||||
| Translational studies | Y | 40476350 | Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome | Walker S, Bunyan DJ, Thomas HB, Kesim Y, Kershaw CJ, Holloway J, Wai H, Day M, Smith CL, Hawkes G, Wood AR, Weedon MN, Blair E, Curtis SL, Fielden C, Evans J, Whittington R, Smithson SF, Cox H, Clift P, McEntagart M, Prapa M, Alsters S, Morris-Rosendahl D, Dean J, Morrison PJ, Dixit A, Sarkar A, Prescott K, Riazat Kesh LA, Tharakan R, Turner C, Ellard S, Shaw-Smith C, Fasham J, Clowes V, Holden S, Somarathi S, Mercer C, Berry I, O'Keefe RT, Banka S, Baralle D, Thomas NS, Baple EL, Taylor JC, Pagnamenta AT. | Genet Med. 2025 Jun 2:101477. doi: 10.1016/j.gim.2025.101477. Online ahead of print. | Walker S | Genet Med | 2025 | 06/06/2025 | 10.1016/j.gim.2025.101477 | ||||||||
| Clinical trials | Y | 40513057 | Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C | Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. | Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13. | Patterson MC | Neurology | 2025 | 13/06/2025 | 10.1212/WNL.0000000000213589 | ||||||||
| Genetic counselling / PPIE | Y | 40369842 | Counseling supervision for genetic counselors: A proposed outsider witness structure | Ferrer-Duch M, Ulph F, Dachs Cabanas E, Fredman G, MacLeod R. | J Genet Couns. 2025 Jun;34(3):e70056. doi: 10.1002/jgc4.70056. | Ferrer-Duch M | J Genet Couns | 2025 | 15/05/2025 | PMC12078868 | 10.1002/jgc4.70056 | |||||||
| Translational studies | Y | 40385354 | Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network | Pasquini TLS, Banerjee I, Christesen HT, Conwell LS, Dastamani A, De Leon DD, Flanagan SE, Gillis D, Kalish JM, Lord K, Mesfin M, Schmitt J, Senniappan S, Stanley CA, Thornton PS, Zangen D, Raskin J. | Front Endocrinol (Lausanne). 2025 May 2;16:1549310. doi: 10.3389/fendo.2025.1549310. eCollection 2025. | Pasquini TLS | Front Endocrinol (Lausanne) | 2025 | 19/05/2025 | PMC12082039 | 10.3389/fendo.2025.1549310 | |||||||
| Mechanistic studies | Y | 40527586 | Efficacy of Nrf2 activation in a proteinuric Alport syndrome mouse model | Kaseda S, Horizono J, Sannomiya Y, Kuwazuru J, Suico MA, Sato R, Fukiya H, Sunamoto H, Ogi S, Matsushita T, Koyama Y, Owaki A, Tsuhako H, Shiraga M, Watanabe H, Nakano T, Davenport B, Nozu K, Yamamoto M, Shuto T, Tokunaga Y, Lennon R, Onuma K, Kai H. | Life Sci Alliance. 2025 Jun 17;8(8):e202503330. doi: 10.26508/lsa.202503330. Print 2025 Aug. | Kaseda S | Life Sci Alliance | 2025 | 17/06/2025 | PMC12174586 | 10.26508/lsa.202503330 | |||||||
| Letters/corrections | Y | 40537530 | Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, et al. | Nat Med. 2025 Jun 19. doi: 10.1038/s41591-025-03754-z. Online ahead of print. | Laurie S | Nat Med | 2025 | 19/06/2025 | 10.1038/s41591-025-03754-z | ||||||||
| Mechanistic studies | Y | 40501629 | The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing | Jiang F, Boylan M, Maxwell DW, Qureshi WMS, Rowlands CF, Tenin G, Mitchell K, Stephen LA, Vasconcelos EJR, Wang D, Chen T, Zha J, Liu J, Althali N, Leordean DV, Gallagher MT, Basu B, Szymanska K, Veeraghanta A, Keavney B, Humphries MJ, Ellingford J, Smith D, Johnson CA, O'Keefe RT, Roy S, Hentges KE. | bioRxiv [Preprint]. 2025 May 27:2025.05.22.654869. doi: 10.1101/2025.05.22.654869. | Jiang F | bioRxiv | 2025 | 12/06/2025 | PMC12154643 | 10.1101/2025.05.22.654869 | |||||||
| Phenotype expansion | Y | 40260669 | Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing | Stafford-Smith B, Daniel M, Peter M, Gurasashvili J, Baptiste R, Bracke-Manzanares X, Georgiou L, Green-Armytage A, Griffin B, Lumborg B, Paternoster B, Smith E, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, George A, George E, Harrison R, Hawkes L, Humphries SE, Jones A, Jones EA, Kraus A, Holiday D, McEntagart M, Somarathi S, Taylor A, Tripathi V, Morris S, Chitty LS, Hill M. | Genet Med. 2025 Apr 19:101446. doi: 10.1016/j.gim.2025.101446. Online ahead of print. | Stafford-Smith B | Genet Med | 2025 | 22/04/2025 | 10.1016/j.gim.2025.101446 | ||||||||
| Translational studies | Y | 40121797 | Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B | Selvanathan A, Kankananarachchi I, Bansal S, Fitzpatrick E, Lemonde H, Turner C, Fairbanks L, White FJ, Dhawan A, Schwahn BC. | Mol Genet Metab. 2025 May;145(1):109079. doi: 10.1016/j.ymgme.2025.109079. Epub 2025 Mar 13. | Selvanathan A | Mol Genet Metab | 2025 | 23/03/2025 | 10.1016/j.ymgme.2025.109079 | ||||||||
| Translational studies | Y | 40424738 | Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots | Shaff A, Basheeruddin K, Bekri S, Brown HA, Church HJ, Gianares J, Hong X, Jones SA, Kappell T, Kubaski F, Oliva P, Orsini J, Tebani A, Wu THY, Lalic G, Gelb MH. | Mol Genet Metab. 2025 Jul;145(3):109138. doi: 10.1016/j.ymgme.2025.109138. Epub 2025 May 18. | Shaff A | Mol Genet Metab | 2025 | 27/05/2025 | 10.1016/j.ymgme.2025.109138 | ||||||||
| Disease gene discoveries | Y | 40415209 | Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling | Robertson N, Joshi A, Ritchie F, Schim van der Loeff I, Royan D, Duker AL, Rice GI, Bober MB, Mansour S, Campbell DI, Brennan M, Brown L, Jones L, Williams E, Jackson AP, Crow YJ. | Eur J Immunol. 2025 May;55(5):e202451518. doi: 10.1002/eji.202451518. | Robertson N | Eur J Immunol | 2025 | 26/05/2025 | PMC12104551 | EMS205894 | 10.1002/eji.202451518 | ||||||
| Letters/corrections | Y | 40237817 | Are we ACE-ing the early treatment of Alport syndrome? | Williamson SJ, Liebau M, Lennon RR. | Pediatr Nephrol. 2025 Aug;40(8):2703-2704. doi: 10.1007/s00467-025-06722-4. Epub 2025 Apr 16. | Williamson SJ | Pediatr Nephrol | 2025 | 16/04/2025 | 10.1007/s00467-025-06722-4 | ||||||||
| Letters/corrections | Y | 40555818 | Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes | Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. | Nat Genet. 2025 Jun 24. doi: 10.1038/s41588-025-02274-3. Online ahead of print. | Jackson A | Nat Genet | 2025 | 24/06/2025 | 10.1038/s41588-025-02274-3 | ||||||||
| Letters/corrections | Y | 40195523 | Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes | Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. | Eur J Hum Genet. 2025 Apr 7. doi: 10.1038/s41431-025-01841-w. Online ahead of print. | Demidov G | Eur J Hum Genet | 2025 | 08/04/2025 | 10.1038/s41431-025-01841-w | ||||||||
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