Marianne Abifadel

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Life Sciences, Genetics, Molecular Genetics +10

NARC-1/PCSK9 and Its Natural Mutants

Suzanne Benjannet, David Rhainds, Rachid Essalmani et al. · Journal of Biological Chemistry · 2004 · 625 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Cathérine Boileau, Dong Guo, Nadine Hanna et al. · Nature Genetics · 2012 · 379 citations

Medicine, Genetics, Molecular Genetics +14

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 305 citations · Full text

Public Health, Endocrinology, Genetics +13