Gauthier Julie Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine Universite de Montreal Biography Publications Institution JoVE Articles Gauthier Julie has not added a biography. If you are Gauthier Julie and would like to personalize this page please email our Author Liaison for assistance. Publications Identification of a Novel In-frame De Novo Mutation in SPTAN1 in Intellectual Disability and Pontocerebellar Atrophy European Journal of Human Genetics : EJHG. Jan, 2012 | Pubmed ID: 22258530 Increased Exonic De Novo Mutation Rate in Individuals with Schizophrenia Nature Genetics. Sep, 2011 | Pubmed ID: 21743468 SYN1 Loss-of-function Mutations in Autism and Partial Epilepsy Cause Impaired Synaptic Function Human Molecular Genetics. Jun, 2011 | Pubmed ID: 21441247 Truncating Mutations in NRXN2 and NRXN1 in Autism Spectrum Disorders and Schizophrenia Human Genetics. Oct, 2011 | Pubmed ID: 21424692 A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing PLoS Genetics. Feb, 2011 | Pubmed ID: 21383861 Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability American Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21376300 Intellectual Disability Without Epilepsy Associated with STXBP1 Disruption European Journal of Human Genetics : EJHG. May, 2011 | Pubmed ID: 21364700 De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism Biological Psychiatry. May, 2011 | Pubmed ID: 21237447 Resequencing of 29 Candidate Genes in Patients with Familial and Sporadic Amyotrophic Lateral Sclerosis Archives of Neurology. May, 2011 | Pubmed ID: 21220648 De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment American Journal of Human Genetics. Nov, 2010 | Pubmed ID: 20950788 Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Science Translational Medicine. Sep, 2010 | Pubmed ID: 20844286 Role of GacA in Virulence of Vibrio Vulnificus Microbiology (Reading, England). Dec, 2010 | Pubmed ID: 20817642 Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts American Journal of Human Genetics. Sep, 2010 | Pubmed ID: 20797689 De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia Biological Psychiatry. Oct, 2010 | Pubmed ID: 20646681 De Novo Mutations in the Gene Encoding the Synaptic Scaffolding Protein SHANK3 in Patients Ascertained for Schizophrenia Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385823 [De Novo Mutations in SYNGAP1 Associated with Non-syndromic Mental Retardation] Médecine Sciences : M/S. Feb, 2010 | Pubmed ID: 20188038 De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy Annals of Neurology. Jun, 2009 | Pubmed ID: 19557857 No Association Between SRGAP3/MEGAP Haploinsufficiency and Mental Retardation Archives of Neurology. May, 2009 | Pubmed ID: 19433673 Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation The New England Journal of Medicine. Feb, 2009 | Pubmed ID: 19196676 Identification of Drostanolone and 17-methyldrostanolone Metabolites Produced by Cryopreserved Human Hepatocytes Steroids. Mar, 2009 | Pubmed ID: 19056412 Novel De Novo SHANK3 Mutation in Autistic Patients American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Apr, 2009 | Pubmed ID: 18615476 Mutations in the Calcium-related Gene IL1RAPL1 Are Associated with Autism Human Molecular Genetics. Dec, 2008 | Pubmed ID: 18801879 Transmission Disequilibrium Study of an Oligodendrocyte and Myelin Glycoprotein Gene Allele in 431 Families with an Autistic Proband Neuroscience Research. Dec, 2007 | Pubmed ID: 17897745 Sleep and COMT Polymorphism in ADHD Children: Preliminary Actigraphic Data Journal of the American Academy of Child and Adolescent Psychiatry. Aug, 2006 | Pubmed ID: 16865041 Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Aug, 2005 | Pubmed ID: 16225173 Capillary Electrophoresis Separation of a Mixture of Chitin and Chitosan Oligosaccharides Derivatized Using a Modified Fluorophore Conjugation Procedure Journal of Separation Science. Aug, 2005 | Pubmed ID: 16138691 NLGN3/NLGN4 Gene Mutations Are Not Responsible for Autism in the Quebec Population American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Jan, 2005 | Pubmed ID: 15389766 Flow Cytometric Analysis of Lectin Binding to in Vitro-cultured Perkinsus Marinus Surface Carbohydrates The Journal of Parasitology. Jun, 2004 | Pubmed ID: 15270084 A Serosurvey of Leptospirosis in Connecticut Peridomestic Wildlife Vector Borne and Zoonotic Diseases (Larchmont, N.Y.). 2003 | Pubmed ID: 14733671 Superoxide Dismutases from the Oyster Parasite Perkinsus Marinus: Purification, Biochemical Characterization, and Development of a Plate Microassay for Activity Analytical Biochemistry. Jul, 2003 | Pubmed ID: 12782041 Mutation Screening of FOXP2 in Individuals Diagnosed with Autistic Disorder American Journal of Medical Genetics. Part A. Apr, 2003 | Pubmed ID: 12655497 CDNA Cloning and Characterization of Two Iron Superoxide Dismutases from the Oyster Parasite Perkinsus Marinus Molecular and Biochemical Parasitology. Aug, 2002 | Pubmed ID: 12165391 Catechol-O-methyltransferase Val-108/158-Met Gene Variants Associated with Performance on the Wisconsin Card Sorting Test Archives of General Psychiatry. Jul, 2002 | Pubmed ID: 12090821 Nucleotide Sequence of the P53 CDNA of Beluga Whale (Delphinapterus Leucas) Gene. Apr, 2002 | Pubmed ID: 12034505 Effects of Plasma from Bivalve Mollusk Species on the in Vitro Proliferation of the Protistan Parasite Perkinsus Marinus The Journal of Experimental Zoology. Feb, 2002 | Pubmed ID: 11857456 A estratégia para identificar mutações de novo em Distúrbios comuns, tais como autismo e esquizofrenia Gauthier Julie1, Fadi F. Hamdan2, Guy A. Rouleau3 1Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal, 2Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers, Universite de Montreal, 3Department of Medicine, Universite de Montreal JoVE 2534 의학
A estratégia para identificar mutações de novo em Distúrbios comuns, tais como autismo e esquizofrenia Gauthier Julie1, Fadi F. Hamdan2, Guy A. Rouleau3 1Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal, 2Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers, Universite de Montreal, 3Department of Medicine, Universite de Montreal JoVE 2534 의학