Nolwenn Jean‐Marçais

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman et al. · Cell · 2020 · 194 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux et al. · Nature Genetics · 2017 · 155 citations · Full text

Life Sciences, Genetics, Neuroscience +14

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang et al. · The American Journal of Human Genetics · 2018 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon et al. · The American Journal of Human Genetics · 2019 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13