De Novo Mutations in Moderate or Severe Intellectual Disability FF Hamdan, M Srour, JM Capo-Chichi, H Daoud, C Nassif, L Patry, ... PLoS genetics 10 (10), e1004772, 2014 | 449 | 2014 |
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 | 445 | 2010 |
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 438 | 2017 |
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 | 422 | 2011 |
SHANK1 deletions in males with autism spectrum disorder D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ... The American Journal of Human Genetics 90 (5), 879-887, 2012 | 401 | 2012 |
Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation FF Hamdan, J Gauthier, D Spiegelman, A Noreau, Y Yang, S Pellerin, ... New England Journal of Medicine 360 (6), 599-605, 2009 | 400 | 2009 |
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 | 391 | 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 | 365 | 2011 |
A critical role for β cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivo D Gautam, SJ Han, FF Hamdan, J Jeon, B Li, JH Li, Y Cui, D Mears, H Lu, ... Cell metabolism 3 (6), 449-461, 2006 | 346 | 2006 |
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia J Gauthier, TJ Siddiqui, P Huashan, D Yokomaku, FF Hamdan, ... Human genetics 130, 563-573, 2011 | 341 | 2011 |
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 | 296 | 2010 |
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ... Human mutation 34 (2), 385-394, 2013 | 283 | 2013 |
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development S Cappello, MJ Gray, C Badouel, S Lange, M Einsiedler, M Srour, ... Nature genetics 45 (11), 1300-1308, 2013 | 275 | 2013 |
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 | 270 | 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 | 266 | 2011 |
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 | 238 | 2011 |
High-throughput screening of G protein-coupled receptor antagonists using a bioluminescence resonance energy transfer 1-based β-arrestin2 recruitment assay FF Hamdan, M Audet, P Garneau, J Pelletier, M Bouvier SLAS Discovery 10 (5), 463-475, 2005 | 235 | 2005 |
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 | 230 | 2008 |
The genetic landscape of infantile spasms JL Michaud, M Lachance, FF Hamdan, L Carmant, A Lortie, P Diadori, ... Human molecular genetics 23 (18), 4846-4858, 2014 | 208 | 2014 |
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 | 195 | 2009 |