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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: humphries 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.
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial.
Marteau T, Senior V, Humphries SE, Bobrow M, Cranston T, Crook MA, Day L, Fernandez M, Horne R, Iversen A, Jackson Z, Lynas J, Middleton-Price H, Savine R, Sikorski J, Watson M, Weinman J, Wierzbicki AS, Wray R; Genetic Risk Assessment for FH Trial Study Group. Marteau T, et al. Among authors: humphries se. Am J Med Genet A. 2004 Jul 30;128A(3):285-93. doi: 10.1002/ajmg.a.30102. Am J Med Genet A. 2004. PMID: 15216550 Clinical Trial.
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: humphries 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.
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.
Versmissen J, Oosterveer DM, Yazdanpanah M, Dehghan A, Hólm H, Erdman J, Aulchenko YS, Thorleifsson G, Schunkert H, Huijgen R, Vongpromek R, Uitterlinden AG, Defesche JC, van Duijn CM, Mulder M, Dadd T, Karlsson HD, Ordovas J, Kindt I, Jarman A, Hofman A, van Vark-van der Zee L, Blommesteijn-Touw AC, Kwekkeboom J, Liem AH, van der Ouderaa FJ, Calandra S, Bertolini S, Averna M, Langslet G, Ose L, Ros E, Almagro F, de Leeuw PW, Civeira F, Masana L, Pintó X, Simoons ML, Schinkel AF, Green MR, Zwinderman AH, Johnson KJ, Schaefer A, Neil A, Witteman JC, Humphries SE, Kastelein JJ, Sijbrands EJ. Versmissen J, et al. Among authors: humphries se. Eur J Hum Genet. 2015 Mar;23(3):381-7. doi: 10.1038/ejhg.2014.101. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916650 Free PMC article.
843 results