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 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman et al. · Cell · 2020 · 182 citations · Full text

Human Enhancer Variants, Genetics, Human Polymorphism +4

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 · 153 citations · Full text

Knockout Mouse, Synaptic Plasticity, Neurobiology Of Disease +12

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 · 76 citations · Full text

Developmental Anomaly, Facial Dysmorphism, Developmental Biology +9

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon et al. · The American Journal of Human Genetics · 2019 · 66 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5