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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: jannes ce. 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.
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
Santos RD, Bourbon M, Alonso R, Cuevas A, Vasques-Cardenas NA, Pereira AC, Merchan A, Alves AC, Medeiros AM, Jannes CE, Krieger JE, Schreier L, Perez de Isla L, Magaña-Torres MT, Stoll M, Mata N, Dell Oca N, Corral P, Asenjo S, Bañares VG, Reyes X, Mata P; Ibero-American Familial Hypercholesterolemia Network. Santos RD, et al. Among authors: jannes ce. J Clin Lipidol. 2017 Jan-Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23. J Clin Lipidol. 2017. PMID: 28391882
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: jannes ce. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.
Alves AC, Alonso R, Diaz-Diaz JL, Medeiros AM, Jannes CE, Merchan A, Vasques-Cardenas NA, Cuevas A, Chacra AP, Krieger JE, Arroyo R, Arrieta F, Schreier L, Corral P, Bañares VG, Araujo MB, Bustos P, Asenjo S, Stoll M, Dell'Oca N, Reyes M, Ressia A, Campo R, Magaña-Torres MT, Metha R, Aguilar-Salinas CA, Ceballos-Macias JJ, Morales ÁJR, Mata P, Bourbon M, Santos RD. Alves AC, et al. Among authors: jannes ce. Arterioscler Thromb Vasc Biol. 2020 Oct;40(10):2508-2515. doi: 10.1161/ATVBAHA.120.313722. Epub 2020 Aug 6. Arterioscler Thromb Vasc Biol. 2020. PMID: 32757650 Free article.
44 results