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 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

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 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14