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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.
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.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: williams m. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: williams m. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
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