Laurent Tosolini

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart et al. · The American Journal of Human Genetics · 2014 · 138 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation

Marie Marduel, Khadija Ouguerram, Valérie Serre et al. · Human Mutation · 2012 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Marianne Abifadel, Maryse Guérin, Suzanne Benjannet et al. · Atherosclerosis · 2012 · 106 citations

Life Sciences, Genetics, Molecular Genetics +15

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Sandy Elbitar, Marjolijn Renard, Pauline Arnaud et al. · Genetics in Medicine · 2020 · 48 citations · Full text

Medicine, Genetics, Molecular Genetics +14