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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: ellard s. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: ellard s. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
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. Pagnamenta AT, et al. Among authors: ellard s. Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. Am J Hum Genet. 2024. PMID: 38776926 Free article.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
The laminopathies: a clinical review.
Rankin J, Ellard S. Rankin J, et al. Among authors: ellard s. Clin Genet. 2006 Oct;70(4):261-74. doi: 10.1111/j.1399-0004.2006.00677.x. Clin Genet. 2006. PMID: 16965317 Review.
670 results