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Year Number of Results
2010 1
2012 5
2013 8
2014 7
2015 4
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2020 1
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2024 0

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Page 1
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.
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. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.
Human genetic evidence for involvement of CD137 in atherosclerosis.
Söderström LÅ, Gertow K, Folkersen L, Sabater-Lleal M, Sundman E, Sheikine Y, Goel A, Baldassarre D, Humphries SE, de Faire U, Watkins H, Tremoli E, Veglia F, Hamsten A, Hansson GK, Olofsson PS. Söderström LÅ, et al. Mol Med. 2014 Oct 14;20(1):456-65. doi: 10.2119/molmed.2014.00004. Mol Med. 2014. PMID: 25032953 Free PMC article.
33 results