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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M, Lee PC, Hudgins LC, Duell PB, Ahmad Z, Baum SJ, Linton MF, de Ferranti SD, Ballantyne CM, Larry JA, Hemphill LC, Kindt I, Gidding SS, Martin SS, Moriarty PM, Thompson PP, Underberg JA, Guyton JR, Andersen RL, Whellan DJ, Benuck I, Kane JP, Myers K, Howard W, Staszak D, Jamison A, Card MC, Bourbon M, Chora JR, Rader DJ, Knowles JW, Wilemon K, McGowan MP. Cuchel M, et al. Among authors: chora jr. J Am Heart Assoc. 2023 May 2;12(9):e029175. doi: 10.1161/JAHA.122.029175. Epub 2023 Apr 29. J Am Heart Assoc. 2023. PMID: 37119068 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. 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.
Genomics of familial hypercholesterolaemia.
Alves AC, Chora JR, Bourbon M. Alves AC, et al. Among authors: chora jr. Curr Opin Lipidol. 2019 Apr;30(2):148-150. doi: 10.1097/MOL.0000000000000584. Curr Opin Lipidol. 2019. PMID: 30844855 No abstract available.
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. Iacocca MA, et al. Among authors: chora jr. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.
13 results