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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M; Simon Broome Consortium; Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM; UK10K Consortium; Humphries SE. Futema M, et al. Among authors: humphries se. J Med Genet. 2014 Aug;51(8):537-44. doi: 10.1136/jmedgenet-2014-102405. Epub 2014 Jul 1. J Med Genet. 2014. PMID: 24987033 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.
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE. Futema M, et al. Among authors: humphries se. Clin Chem. 2015 Jan;61(1):231-8. doi: 10.1373/clinchem.2014.231365. Epub 2014 Nov 20. Clin Chem. 2015. PMID: 25414277 Free PMC article.
1,384 results