Area of research
Surgery · Endocrinology, Diabetes and Metabolism
Research interest
Research interests include Medicine, Internal medicine, PCSK9, Genetics, Exome sequencing, and Apolipoprotein B.
Genetic and molecular architecture of familial hypercholesterolemia
The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia
Plasma proprotein‐convertase‐subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes
Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
Familial hypercholesterolaemia: A global call to arms
Plasma NOV/CCN3 Levels Are Closely Associated with Obesity in Patients with Metabolic Disorders
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia