Lista de obras - Amélie Piton - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

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

scientific article published on 01 March 2019

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

artículo científico publicado en 2020

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

artículo científico publicado en 2018

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

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

artículo científico publicado en 2016

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

scientific article published on 28 November 2019

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

artículo científico publicado en 2020

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

artículo científico publicado en 2009

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

artículo científico publicado en 2011

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

artículo científico publicado en 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

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

artículo científico publicado en 2010

De novo truncating mutation in Kinesin 17 associated with schizophrenia

artículo científico publicado en 2010

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

scientific article published on 14 June 2019

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

scientific journal article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Expanding the phenotypic spectrum of ARCN1-related syndrome

artículo científico publicado en 2022

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

scientific article published on 05 December 2020

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

artículo científico publicado en 2019

Novel de novo SHANK3 mutation in autistic patients

artículo científico publicado en 2009

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

artículo científico publicado en 2016

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

artículo científico publicado en 2019

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

artículo científico publicado en 2004

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

scientific article published on 27 February 2020

Points to consider for laboratories reporting results from diagnostic genomic sequencing

artículo científico publicado en 2017

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

scientific article published on 18 February 2020

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

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

artículo científico publicado en 2016

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

artículo científico publicado en 2023

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

artículo científico publicado en 2021

VaRank: a simple and powerful tool for ranking genetic variants

artículo científico publicado en 2015

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

artículo científico publicado en 2017

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

artículo científico publicado en 2021

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Lista de obras de Amélie Piton

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

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

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

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

AnnotSV: an integrated tool for structural variations annotation

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

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

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

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

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

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

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

De novo truncating mutation in Kinesin 17 associated with schizophrenia

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Defining the phenotypic spectrum of SLC6A1 mutations

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

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

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

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

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

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

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

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

Expanding the phenotypic spectrum of ARCN1-related syndrome

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

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

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

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

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

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

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

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

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

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

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Novel de novo SHANK3 mutation in autistic patients

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

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

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Points to consider for laboratories reporting results from diagnostic genomic sequencing

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

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

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

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

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

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

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

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

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

VaRank: a simple and powerful tool for ranking genetic variants

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

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

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

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