Michaud, Jacques L.

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Piao, X., Hill, R. S., Bodell, A., Chang, B. S., Basel-Vanagaite, L., Straussberg, R., Dobyns, W. B., Qasrawi, B., Winter, R. M., Innes, A. M., et al. (2004) · Science

Fetal and Pediatric Neurological DisordersNeurogenesis and neuroplasticity mechanisms

Cited by 517

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

De Novo Mutations in Moderate or Severe Intellectual Disability

Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 419

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Hamdan, F. F., Gauthier, J., Araki, Y., Lin, D.-T., Yoshizawa, Y., Higashi, K., Park, A.-R., Spiegelman, D., Dobrzeniecka, S., Piton, A., et al. (2011) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 349

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Hamdan, F. F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., Pellerin, S., Dobrzeniecka, S., Côté, M., Perreau-Linck, E., Carmant, L., et al. (2009) · New England Journal of Medicine

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 336

SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., et al. (2012) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 318

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Gauthier, J., Siddiqui, T. J., Huashan, P., Yokomaku, D., Hamdan, F. F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafrenière, R. G., et al. (2011) · Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 286

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., et al. (2013) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 266

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., et al. (2010) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersLanguage Development and Disorders

Cited by 235

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Tarabeux, J., Kebir, O., Gauthier, J., Hamdan, F. F., Xiong, L., Piton, A., Spiegelman, D., Henrion, É., Millet, B., S2D team, et al. (2011) · Translational Psychiatry

Genetics and Neurodevelopmental DisordersSchizophrenia research and treatment

Cited by 231

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., et al. (2016) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 200

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D team, et al. (2008) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 195

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Hamdan, F. F., Daoud, H., Piton, A., Gauthier, J., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lacaille, J.-C., Nadeau, A., Milunsky, J. M., et al. (2011) · Biological Psychiatry

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 187

Recessive mutations in VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., et al. (2018) · Annals of Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 127

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function

Berryer, M. H., Chattopadhyaya, B., Xing, P., Riebe, I., Bosoi, C., Sanon, N., Antoine-Bertrand, J., Lévesque, M., Avoli, M., Hamdan, F. F., et al. (2016) · Nature Communications

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 93

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, I., Hamdan, F. F., Rio, M., Capo-Chichi, J.-M., Boddaert, N., Décarie, J.-C., Maranda, B., Nabbout, R., Sylvain, M., Lortie, A., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 50

The role of common genetic variation in presumed monogenic epilepsies

Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., et al. (2022) · eBioMedicine

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 42