Sébastien Chénier

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea, Sergiu Dumitriu, Marc Fiume et al. · Human Mutation · 2013 · 247 citations · Full text

Patient Selection, Genetic Epidemiology, Semantic Web +19

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier, Grace Yoon, Bob Argiropoulos et al. · Journal of Neurodevelopmental Disorders · 2014 · 93 citations · Full text

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Jeff M. Milunsky, Tom M. Maher, Geping Zhao et al. · American Journal of Medical Genetics Part A · 2010 · 67 citations

Genetics, Genetic Epidemiology, Pathology +18

Interstitial deletion of 11q‐implicating the <i>KIRREL3</i> gene in the neurocognitive delay associated with Jacobsen syndrome

Andrea Guerin, Dimitri J. Stavropoulos, Yaser Diab et al. · American Journal of Medical Genetics Part A · 2012 · 57 citations

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Sébastien Lévesque, Christiane Auray‐Blais, Elaine Gravel et al. · Orphanet Journal of Rare Diseases · 2016 · 57 citations · Full text