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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: williams m. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Clinical and genetic aspects of KBG syndrome.
Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study; Smithson S. Low K, et al. Among authors: williams m. Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26. Am J Med Genet A. 2016. PMID: 27667800 Free PMC article.
A splice-site variant in ANKRD11 associated with classical KBG syndrome.
Low KJ, Hills A, Williams M, Duff-Farrier C, McKee S, Smithson SF. Low KJ, et al. Among authors: williams m. Am J Med Genet A. 2017 Oct;173(10):2844-2846. doi: 10.1002/ajmg.a.38397. Epub 2017 Aug 17. Am J Med Genet A. 2017. PMID: 28815928 No abstract available.
A comparison of methods for EGFR mutation testing in non-small cell lung cancer.
Young EC, Owens MM, Adebiyi I, Bedenham T, Butler R, Callaway J, Cranston T, Crosby C, Cree IA, Dutton L, Faulkes C, Faulkner C, Howard E, Knight J, Huang Y, Lavender L, Lazarou LP, Liu H, Mair D, Milano A, Sandell S, Skinner A, Wallace A, Williams M, Spivey V, Goodall J, Frampton J, Ellard S; Clinical Molecular Genetics Society (CMGS) Scientific Subcommittee. Young EC, et al. Among authors: williams m. Diagn Mol Pathol. 2013 Dec;22(4):190-5. doi: 10.1097/PDM.0b013e318294936c. Diagn Mol Pathol. 2013. PMID: 24193010
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: williams m. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: williams m. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA. Bierzynska A, et al. Among authors: williams m. Pediatr Nephrol. 2022 Nov;37(11):2643-2656. doi: 10.1007/s00467-022-05440-5. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211795 Free PMC article.
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