Marie‐Laure Vuillaume

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

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

Marie‐Laure Vuillaume, Sophie Naudion, Guillaume Banneau et al. · American Journal of Medical Genetics Part A · 2014 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal et al. · The American Journal of Human Genetics · 2021 · 43 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutation update for the<i>GPC3</i>gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Marie‐Laure Vuillaume, Marie‐Pierre Moizard, Sylvie Rossignol et al. · Human Mutation · 2018 · 34 citations

Life Sciences, Genetics, Molecular Genetics +16

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Sébastien Moutton, Patricia Fergelot, Sophie Naudion et al. · Journal of Human Genetics · 2016 · 30 citations

Medicine, Dermatology, Pediatrics +9