Mathilde Di Filippo

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

Mathilde Di Filippo, Philippe Moulin, Pascal Roy et al. · Journal of Hepatology · 2014 · 146 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel, Alain Carrié, Agnès Sassolas et al. · Human Mutation · 2010 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Antonio Gallo, Leopoldo Pérez de Isla, Sybil Charrière et al. · JACC. Cardiovascular imaging · 2021 · 83 citations

Medicine, Cardiology, Health Sciences +17

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Kanika Dharmayat, Antonio J. Vallejo‐Vaz, Christophe Stevens et al. · The Lancet · 2023 · 79 citations · Full text

Public Health, Child Health, Pediatrics +14

An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site

Cyrielle Caussy, Sybil Charrière, Christophe Marçais et al. · The American Journal of Human Genetics · 2014 · 58 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +11