Marie‐Ange Delrue

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

Comparison of Clinical Presentations and Outcomes Between Patients With <i>TGFBR2</i> and <i>FBN1</i> Mutations in Marfan Syndrome and Related Disorders

David Attias, Chantal Stheneur, Carine Roy et al. · Circulation · 2009 · 236 citations · Full text

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Angela E. Lin, Mark E. Alexander, Steven D. Colan et al. · American Journal of Medical Genetics Part A · 2011 · 131 citations · Full text

Clinical Disorders, Hras Mutation, Cardiomyopathy +13