Gauthier, Julie

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

Increased exonic de novo mutation rate in individuals with schizophrenia

Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 438

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersSchizophrenia research and treatment

Cited by 369

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

Novel de novo SHANK3 mutation in autistic patients

Gauthier, J., Spiegelman, D., Piton, A., Lafrenière, R. G., Laurent, S., St‐Onge, J., Lapointe, L., Hamdan, F. F., Cossette, P., Mottron, L., et al. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 321

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

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

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

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 193

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

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

Myers, R. A., Casals, F., Gauthier, J., Hamdan, F. F., Keebler, J., Boyko, A. R., Bustamante, C. D., Piton, A. M., Spiegelman, D., Henrion, E., et al. (2011) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 97

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

Gauthier, J., Joober, R., Dubé, M.-P., St-Onge, J., Bonnel, A., Gariépy, D., Laurent, S., Najafee, R., Lacasse, H., St-Charles, L., et al. (2006) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 23