Céline Dupont

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira et al. · Prenatal Diagnosis · 2015 · 313 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Claude Férec, Odile Raguénès, Rémi Salomon et al. · Journal of Medical Genetics · 1999 · 199 citations

Life Sciences, Genetics, Molecular Genetics +16

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Essam Al Ageeli, Séverine Drunat, Catherine Delanöe et al. · European Journal of Medical Genetics · 2013 · 134 citations

Life Sciences, Genetics, Molecular Genetics +16

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy et al. · npj Genomic Medicine · 2017 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17