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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Fleming A, Galey M, Briggs L, Edwards M, Hogg C, John S, Wilkinson S, Quinn E, Rai R, Burgoyne T, Rogers A, Patel MP, Griffin P, Muller S, Carr SB, Loebinger MR, Lucas JS, Shah A, Jose R, Mitchison HM, Shoemark A, Miller DE, Morris-Rosendahl DJ. Fleming A, et al. Among authors: wilkinson s. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01599-7. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605126
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Whiffin N, Walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk AE, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan DP, Prasad SK, Morris-Rosendahl DJ, Barton PJR, Edwards E, Ware JS, Cook SA. Whiffin N, et al. Among authors: wilkinson s. Genet Med. 2018 Oct;20(10):1246-1254. doi: 10.1038/gim.2017.258. Epub 2018 Jan 25. Genet Med. 2018. PMID: 29369293 Free PMC article.
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, Ware JS. Rea G, et al. Among authors: wilkinson s. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050600 Free PMC article.
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA. Roberts AM, et al. Among authors: wilkinson s. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134. Sci Transl Med. 2015. PMID: 25589632 Free PMC article.
Recombinant ADAMTS13 for Immune Thrombotic Thrombocytopenic Purpura.
Bendapudi PK, Foy BH, Mueller SB, Liu J, Feingold LM, Burke KE, Cruz W, Chen MY, Lau ES, Goldberg RL, Tatake I, Wilkinson SC, Carney BJ, Stone JR, Park D, Avelino AR, Hassan S, Andrzejewski C, Ruby KN, Friedman KD, Brunker PAR, Leaf RK, Higgins J, Dzik WH, Stefely JA, Makar RS. Bendapudi PK, et al. Among authors: wilkinson sc. N Engl J Med. 2024 May 9;390(18):1690-1698. doi: 10.1056/NEJMoa2402567. N Engl J Med. 2024. PMID: 38718359
"More support, less distress?": Examining the role of social norms in alleviating practitioners' psychological distress in the context of assisted dying services.
Wibisono S, Mavandadi P, Wilkinson S, Amiot C, Forbat L, Thomas EF, Allen F, Decety J, Noonan K, Minto K, Breen LJ, Kho M, Crane M, Lizzio-Wilson M, Molenberghs P, Louis W. Wibisono S, et al. Among authors: wilkinson s. Death Stud. 2024 Apr 10:1-12. doi: 10.1080/07481187.2024.2337189. Online ahead of print. Death Stud. 2024. PMID: 38597737
1,679 results