Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Genome Research
Alharbi, Khalid K KK; Aldahmesh, Mohammed A MA; Spanakis, Emmanuel E; Haddad, Lema L; Whittall, Roslyn A RA; Chen, Xiao-he XH; Rassoulian, Hamid H; Smith, Matt J MJ; Sillibourne, Julie J; Ball, Nicola J NJ; Graham, Nikki J NJ; Briggs, Patricia J PJ; Simpson, Iain A IA; Phillips, David I W DI; Lawlor, Deborah A DA; Ye, Shu S; Humphries, Stephen E SE; Cooper, Cyrus C; Smith, George Davey GD; Ebrahim, Shah S; Eccles, Diana M DM; Day, Ian N M IN