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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: leigh se. 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.
Commentary PCSK9 variants: A new database.
Leigh SE, Leren TP, Humphries SE. Leigh SE, et al. Atherosclerosis. 2009 Mar;203(1):32-3. doi: 10.1016/j.atherosclerosis.2009.02.006. Atherosclerosis. 2009. PMID: 19249440 No abstract available.
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, Leigh SE, Karpe F, Neil HA; Simon Broome Register Group; Humphries SE. Futema M, et al. Among authors: leigh se. Atherosclerosis. 2013 Jul;229(1):161-8. doi: 10.1016/j.atherosclerosis.2013.04.011. Epub 2013 Apr 18. Atherosclerosis. 2013. PMID: 23669246 Free PMC article.
Editor-in-Chief's report 2014.
Humphries SE, Leigh S. Humphries SE, et al. Among authors: leigh s. Atherosclerosis. 2015 Mar;239(1):A1-2. doi: 10.1016/j.atherosclerosis.2015.02.007. Epub 2015 Feb 10. Atherosclerosis. 2015. PMID: 25684111 No abstract available.
Editor-in-Chief's report 2015.
Humphries SE, Leigh S. Humphries SE, et al. Among authors: leigh s. Atherosclerosis. 2016 Jan;244:224-5. doi: 10.1016/j.atherosclerosis.2015.12.005. Epub 2015 Dec 9. Atherosclerosis. 2016. PMID: 26724559 No abstract available.
107 results