Maxime Cadieux‐Dion

Expanding the Clinical Phenotype Associated With<i>ELOVL4</i>Mutation

Maxime Cadieux‐Dion, Maude Turcotte-Gauthier, Anne Noreau et al. · JAMA Neurology · 2014 · 130 citations

Life Sciences, Dermatology, Genetics +17

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

Anna Corradi, Manuela Fadda, Amélie Piton et al. · Human Molecular Genetics · 2013 · 89 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach et al. · The American Journal of Human Genetics · 2019 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +10