List of works - Amélie Piton

Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma HepaRG cells

scientific article published on 4 October 2005

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

scientific journal article

Novel de novo SHANK3 mutation in autistic patients

scientific article

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

scientific article

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

scientific article published on 18 May 2010

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

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

scientific article

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

scientific article published on 25 March 2011

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

scientific article published on 18 September 2008

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

scientific article

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

scientific article published on 15 November 2011

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

Gene and protein characterization of the human glutathione S-transferase kappa and evidence for a peroxisomal localization

scientific article

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

scientific article

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

scientific article

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

scientific article published on 06 May 2016

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

VaRank: a simple and powerful tool for ranking genetic variants

scientific article

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

scientific article published on 15 August 2013

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

scientific article

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

scientific article published on 20 April 2016

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

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

scientific article

De novo truncating mutation in Kinesin 17 associated with schizophrenia

scientific article published on 19 June 2010

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

Points to consider for laboratories reporting results from diagnostic genomic sequencing

scientific article published on 28 November 2017

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

scientific article published on 12 October 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

scientific article published on 7 December 2016

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

scientific article published on 07 April 2016

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

scientific article published on 31 August 2017

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

scientific article published on 9 January 2018

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

scientific article published on 03 June 2016

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

Involvement of pregnane X receptor in the regulation of CYP2B6 gene expression by oltipraz in human hepatocytes

scientific article published on 12 October 2009

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

scientific article published on 8 April 2016

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Oltipraz regulates different categories of genes relevant to chemoprevention in human hepatocytes.

scientific article published on 21 October 2004

Sex-specific impact of prenatal androgens on social brain default mode subsystems

scientific article published on 13 August 2018

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.

scientific article published in August 2013

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

scientific article published on 14 June 2019

List of works by Amélie Piton

Expression of cytochromes P450, conjugating enzymes and nuclear receptors in human hepatoma HepaRG cells

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

Novel de novo SHANK3 mutation in autistic patients

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

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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

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

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

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

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

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

Gene and protein characterization of the human glutathione S-transferase kappa and evidence for a peroxisomal localization

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

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

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

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

VaRank: a simple and powerful tool for ranking genetic variants

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

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

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

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

De novo truncating mutation in Kinesin 17 associated with schizophrenia

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

AnnotSV: an integrated tool for structural variations annotation

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Points to consider for laboratories reporting results from diagnostic genomic sequencing

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Defining the phenotypic spectrum of SLC6A1 mutations

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Involvement of pregnane X receptor in the regulation of CYP2B6 gene expression by oltipraz in human hepatocytes

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Oltipraz regulates different categories of genes relevant to chemoprevention in human hepatocytes.

Sex-specific impact of prenatal androgens on social brain default mode subsystems

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder