Publications

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
Category Authors Journal/Book Publication Year