Isabelle Marey

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Elouan Chérot, Boris Keren, Christèle Dubourg et al. · Clinical Genetics · 2017 · 110 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

Acute Regression in Young People with Down Syndrome

Clotilde Mircher, Cécile Cieuta‐Walti, Isabelle Marey et al. · Brain Sciences · 2017 · 71 citations · Full text

Medicine, Neurology, Psychiatry +17

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Lou Grangeon, David Wallon, Camille Charbonnier et al. · Brain · 2019 · 66 citations · Full text

Life Sciences, Genetics, Neurology +12