Cathérine Boileau

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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

Genetic Disorder, Genetics, Pathology +4

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Børge G. Nordestgaard, M. John Chapman, Steve E. Humphries et al. · European Heart Journal · 2013 · 2.7K citations · Full text

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

Marina Cuchel, Éric Bruckert, Henry N. Ginsberg et al. · European Heart Journal · 2014 · 1K citations · Full text

NARC-1/PCSK9 and Its Natural Mutants

Suzanne Benjannet, David Rhainds, Rachid Essalmani et al. · Journal of Biological Chemistry · 2004 · 618 citations · Full text

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4