Nicolas Chatron

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 79 citations · Full text

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

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Mirna Assoum, Christophe Philippe, Bertrand Isidor et al. · The American Journal of Human Genetics · 2016 · 69 citations · Full text

Early-onset Epileptic Encephalopathy, Genetic Disorder, Genetics +9

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 54 citations · Full text

Nexmif Encephalopathy, Mendelian Disorder, Fragile X Spectrum +8