KaWah Li

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Philippa J. Talmud, Sonia Shah, Ros Whittall et al. · The Lancet · 2013 · 581 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Marta Futema, Sonia Shah, Jackie Cooper et al. · Clinical Chemistry · 2014 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah et al. · The American Journal of Human Genetics · 2009 · 198 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Whole exome sequencing of familial hypercholesterolaemia patients negative for <i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i> mutations

Marta Futema, Vincent Plagnol, KaWah Li et al. · Journal of Medical Genetics · 2014 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients

Ros Whittall, Mariléia Scartezini, KaWah Li et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 2009 · 43 citations

Medicine, Genetics, Molecular Genetics +17