Roslyn A. Whittall

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

S. E. A. Leigh, A. H. Foster, Roslyn A. Whittall et al. · Annals of Human Genetics · 2008 · 233 citations

Life Sciences, Genetics, Molecular Genetics +15

Healthy Individuals Carrying the PCSK9 p.R46L Variant and Familial Hypercholesterolemia Patients Carrying PCSK9 p.D374Y Exhibit Lower Plasma Concentrations of PCSK9

Steve E. Humphries, R. Dermot G. Neely, Roslyn A. Whittall et al. · Clinical Chemistry · 2009 · 52 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

Ian N.M. Day, Lema Haddad, Sandra D. O’Dell et al. · Journal of Medical Genetics · 1997 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation scanning by meltMADGE: Validations using<i>BRCA1</i>and<i>LDLR</i>, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

Khalid Khalaf Alharbi, Mohammed A. Aldahmesh, Emmanuel Spanakis et al. · Genome Research · 2005 · 22 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

Mert Sozen, Roslyn A. Whittall, Steve E. Humphries · Atherosclerosis Supplements · 2004 · 17 citations

Life Sciences, Genetics, Molecular Genetics +15