Gauthier Julie

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