Amanda J. Hooper

The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population

Amanda J. Hooper, A. David Marais, Donald Moshen Tanyanyiwa et al. · Atherosclerosis · 2006 · 365 citations

Life Sciences, Genetics, Molecular Genetics +9

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý et al. · Genetics in Medicine · 2021 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

Michael A. Iacocca, Joana Rita Chora, Alain Carrié et al. · Human Mutation · 2018 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia

Dick C. Chan, Jing Pang, Amanda J. Hooper et al. · International Journal of Cardiology · 2015 · 87 citations

Medicine, Cardiology, Genetics +16

Genetic analysis of familial hypercholesterolaemia in Western Australia

Amanda J. Hooper, Lan Nguyen, John R. Burnett et al. · Atherosclerosis · 2012 · 76 citations

Life Sciences, Genetics, Molecular Genetics +12