| Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma HepaRG cells C Aninat, A Piton, D Glaise, T Le Charpentier, S Langouët, F Morel, ... Drug metabolism and disposition 34 (1), 75-83, 2006 | 778 | 2006 |
| De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia J Gauthier, N Champagne, RG Lafrenière, L Xiong, D Spiegelman, ... Proceedings of the National Academy of Sciences 107 (17), 7863-7868, 2010 | 428 | 2010 |
| Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability FF Hamdan, J Gauthier, Y Araki, DT Lin, Y Yoshizawa, K Higashi, AR Park, ... The American Journal of Human Genetics 88 (3), 306-316, 2011 | 400 | 2011 |
| Novel de novo SHANK3 mutation in autistic patients J Gauthier, D Spiegelman, A Piton, RG Lafrenière, S Laurent, J St‐Onge, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150 …, 2009 | 378 | 2009 |
| Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia A Piton, J Gauthier, FF Hamdan, RG Lafreniere, Y Yang, E Henrion, ... Molecular psychiatry 16 (8), 867-880, 2011 | 352 | 2011 |
| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 290 | 2014 |
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing A Piton, C Redin, JL Mandel The American Journal of Human Genetics 93 (2), 368-383, 2013 | 288 | 2013 |
| Direct measure of the de novo mutation rate in autism and schizophrenia cohorts P Awadalla, J Gauthier, RA Myers, F Casals, FF Hamdan, AR Griffing, ... The American Journal of Human Genetics 87 (3), 316-324, 2010 | 288 | 2010 |
| Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia J Tarabeux, O Kebir, J Gauthier, FF Hamdan, L Xiong, A Piton, ... Translational psychiatry 1 (11), e55-e55, 2011 | 257 | 2011 |
| De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment FF Hamdan, H Daoud, D Rochefort, A Piton, J Gauthier, M Langlois, ... The American Journal of Human Genetics 87 (5), 671-678, 2010 | 257 | 2010 |
| AnnotSV: an integrated tool for structural variations annotation V Geoffroy, Y Herenger, A Kress, C Stoetzel, A Piton, H Dollfus, J Muller Bioinformatics 34 (20), 3572-3574, 2018 | 254 | 2018 |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ... Science translational medicine 2 (49), 49ra68-49ra68, 2010 | 248 | 2010 |
| SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function A Fassio, L Patry, S Congia, F Onofri, A Piton, J Gauthier, D Pozzi, ... Human molecular genetics 20 (12), 2297-2307, 2011 | 238 | 2011 |
| Mutations in the calcium-related gene IL1RAPL1 are associated with autism A Piton, JL Michaud, H Peng, S Aradhya, J Gauthier, L Mottron, ... Human molecular genetics 17 (24), 3965-3974, 2008 | 223 | 2008 |
| De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism FF Hamdan, H Daoud, A Piton, J Gauthier, S Dobrzeniecka, MO Krebs, ... Biological psychiatry 69 (9), 898-901, 2011 | 218 | 2011 |
| Gene and protein characterization of the human glutathione S-transferase kappa and evidence for a peroxisomal localization F Morel, C Rauch, E Petit, A Piton, N Theret, B Coles, A Guillouzo Journal of biological chemistry 279 (16), 16246-16253, 2004 | 201 | 2004 |
| De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy FF Hamdan, A Piton, J Gauthier, A Lortie, F Dubeau, S Dobrzeniecka, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 190 | 2009 |
| Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 182 | 2016 |
| Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 166 | 2016 |
| Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family O Okutman, J Muller, Y Baert, M Serdarogullari, M Gultomruk, A Piton, ... Human molecular genetics 24 (19), 5581-5588, 2015 | 133 | 2015 |
