Many publications in rare conditions research are produced and contributed by Manchester researchers. This repository includes the publications from 2019 to May 2024 and is updated quarterly to provide the most current information.
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| wdt_ID | wdt_created_by | wdt_created_at | wdt_last_edited_by | wdt_last_edited_at | Category | Letters/corrections/proceedings, queries | Clinical trials | Disease gene discoveries | Phenotype expansion | Mechanistic studies | Translational studies | Genetic counselling / PPIE | Title | Authors | Citation | First Author | Journal/Book | Publication Year | Create Date | PMCID | NIHMS ID | DOI | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Mechanistic studies | Y | 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 | 31855120 | ||||||||
| 2 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Mechanistic studies | Y | 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, Mikulas | 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 | 31836668 | ||||||
| 3 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Mechanistic studies | Y | 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 | 31808745 | |||||||
| 4 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Phenotype expansion | Y | 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 | 31777768 | |||||||
| 5 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Phenotype expansion | Y | 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, Metc | 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 | 31721432 | ||||||||
| 6 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Phenotype expansion | Y | 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 | 31719542 | |||||||
| 7 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Disease gene discoveries | Y | 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 | 31714006 | ||||||||
| 8 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Translational studies | Y | 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 | 31660995 | |||||||
| 9 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Disease gene discoveries | Y | 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 | 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 | 31637422 | |||||||
| 10 | hannahjackson | 05/06/2024 03:35 PM | hannahjackson | 05/06/2024 03:35 PM | Phenotype expansion | Y | 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, Capel | 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 | 31636762 |