Julien Van‐Gils

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

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Oriane Mercati, Guillaume Huguet, Anne Danckaert et al. · Molecular Psychiatry · 2016 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +17

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of <scp>C</scp>harlevoix–<scp>S</scp>aguenay

Julie Pilliod, Sébastien Moutton, Julie Lavie et al. · Annals of Neurology · 2015 · 74 citations

Life Sciences, Genetics, Molecular Genetics +17