Wallid Deb

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

Stéphanie Kilens, Dimitri Meistermann, Diego Moreno et al. · Nature Communications · 2018 · 137 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +15

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Thomas Besnard, Natacha Sloboda, Alice Goldenberg et al. · Genetics in Medicine · 2019 · 60 citations · Full text

Life Sciences, 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