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20 results

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Page 1
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF; DDD Study28. Copeland H, et al. Among authors: wynn sl. Genet Med Open. 2024 Oct 14;2:101864. doi: 10.1016/j.gimo.2024.101864. eCollection 2024. Genet Med Open. 2024. PMID: 39822267 Free PMC article.
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. Among authors: wynn sl. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free PMC article.
SOX9 induces and maintains neural stem cells.
Scott CE, Wynn SL, Sesay A, Cruz C, Cheung M, Gomez Gaviro MV, Booth S, Gao B, Cheah KS, Lovell-Badge R, Briscoe J. Scott CE, et al. Among authors: wynn sl. Nat Neurosci. 2010 Oct;13(10):1181-9. doi: 10.1038/nn.2646. Nat Neurosci. 2010. PMID: 20871603
SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.
Szeto IYY, Chu DKH, Chen P, Chu KC, Au TYK, Leung KKH, Huang YH, Wynn SL, Mak ACY, Chan YS, Chan WY, Jauch R, Fritzsch B, Sham MH, Lovell-Badge R, Cheah KSE. Szeto IYY, et al. Among authors: wynn sl. Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2122121119. doi: 10.1073/pnas.2122121119. Epub 2022 Nov 7. Proc Natl Acad Sci U S A. 2022. PMID: 36343245 Free PMC article.
Unresolved ethical issues of genetic counseling and testing in clinical psychiatry.
Perry J, Bunnik E, Rietschel M, Bentzen HB, Ingvoldstad Malmgren C, Pawlak J, Chaumette B, Tammimies K, Bialy F, Bizzarri V, Borg I, Coviello D, Crepaz-Keay D, Ivanova E, McQuillin A, Mežinska S, Johansson Soller M, Suvisaari J, Watson M, Wirgenes K, Wynn SL, Degenhardt F, Schicktanz S. Perry J, et al. Among authors: wynn sl. Psychiatr Genet. 2025 Apr 1;35(2):26-36. doi: 10.1097/YPG.0000000000000385. Epub 2025 Feb 5. Psychiatr Genet. 2025. PMID: 39945108
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, Holder-Espinasse M, Lafarge C, Leeson-Beevers K, McEwan A, Pandya P, Parker M, Peet S, Roberts L, Sankaran S, Smith A, Tapon D, Wu WH, Wynn SL, Chitty LS, Hill M, Peter M. McInnes-Dean H, et al. Among authors: wynn sl. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. Prenat Diagn. 2024. PMID: 38441167
20 results