List of works - Julie Gauthier

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

scientific article published on 22 May 2017

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

scientific article

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

A population genetic approach to mapping neurological disorder genes using deep resequencing

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

scientific article

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Capillary electrophoresis separation of a mixture of chitin and chitosan oligosaccharides derivatized using a modified fluorophore conjugation procedure

scientific article

Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test

scientific article published on 01 July 2002

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

scientific article published on 29 March 2018

Clinical stringency greatly improves mutation detection in Rett syndrome

scientific article

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

scientific article published in June 2009

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

scientific article published on 15 January 2011

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

scientific article

De novo mutations in SYNGAP1 associated with non-syndromic mental retardation

scientific article published in February 2010

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

scientific article published on 25 September 2012

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

scientific article

De novo truncating mutation in Kinesin 17 associated with schizophrenia

scientific article published on 19 June 2010

De novo variants in sporadic cases of childhood onset schizophrenia

scientific article published on 28 October 2015

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

scientific article

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

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

scientific journal article

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

scientific article published on 17 September 2013

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

scientific article

Identification of a novel metal binding protein, segon, in plasma of the eastern oyster, Crassostrea virginica

scientific article

Identification of cvSI-3 and evidence for the wide distribution and active evolution of the I84 family of protease inhibitors in mollusks

scientific article

Identification of drostanolone and 17-methyldrostanolone metabolites produced by cryopreserved human hepatocytes

scientific article

Intellectual disability without epilepsy associated with STXBP1 disruption

scientific article

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

scientific article published on 20 February 2013

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

scientific article (publication date: 15 April 2003)

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

scientific article

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

scientific article published on 18 September 2008

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

scientific article

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

scientific article published in May 2009

Novel de novo SHANK3 mutation in autistic patients

scientific article

Rare variants in complex traits: novel identification strategies and the role of de novo mutations

scientific article published on January 2012

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

scientific article published on 25 March 2011

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

scientific article published on 15 August 2013

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Sleep and COMT polymorphism in ADHD children: preliminary actigraphic data

scientific article

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

scientific article published on 4 February 2015

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband

scientific article published on 19 August 2007

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

scientific article

List of works by Julie Gauthier

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

A population genetic approach to mapping neurological disorder genes using deep resequencing

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Capillary electrophoresis separation of a mixture of chitin and chitosan oligosaccharides derivatized using a modified fluorophore conjugation procedure

Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Clinical stringency greatly improves mutation detection in Rett syndrome

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

De novo mutations in SYNGAP1 associated with non-syndromic mental retardation

De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

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

De novo truncating mutation in Kinesin 17 associated with schizophrenia

De novo variants in sporadic cases of childhood onset schizophrenia

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

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

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

Identification of a novel metal binding protein, segon, in plasma of the eastern oyster, Crassostrea virginica

Identification of cvSI-3 and evidence for the wide distribution and active evolution of the I84 family of protease inhibitors in mollusks

Identification of drostanolone and 17-methyldrostanolone metabolites produced by cryopreserved human hepatocytes

Intellectual disability without epilepsy associated with STXBP1 disruption

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

Novel de novo SHANK3 mutation in autistic patients

Rare variants in complex traits: novel identification strategies and the role of de novo mutations

Recessive mutations in VPS13D cause childhood-onset movement disorders

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

SYNE1 mutations in autosomal recessive cerebellar ataxia

Sleep and COMT polymorphism in ADHD children: preliminary actigraphic data

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband

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