Gaëlle Vieville

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Francesca Mattioli, Élise Schaefer, Alex Magee et al. · The American Journal of Human Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 60 citations

Medicine, Genetics, Molecular Genetics +17

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Quentin Testard, Xavier Vanhoye, Kévin Yauy et al. · Journal of Medical Genetics · 2022 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability

Charles Coutton, Françoise Devillard, Gaëlle Vieville et al. · American Journal of Medical Genetics Part A · 2012 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton et al. · Neurogenetics · 2018 · 44 citations

Life Sciences, Genetics, Molecular Genetics +14