I’m a human geneticist and was the Director of the Imagine Institute from 2016 to 2025. I am professor of Genetics at Paris Cité University and a clinical geneticist at Hôpital Necker-Enfants Malades.

My work at the Imagine Institute (Institute of Genetic Diseases) focusses on genetic conditions resulting from inborn errors of development. As a paediatrician, I have also dealt with children and families affected with malformation syndromes caused by the effects of a disease gene operating or non operating during development.

Publications

Bookstore

Les 100 mots de la génétique

The Year in Human and Medical Genetics: New Trends in Mendelian Genetics, Volume 1214