Lista de obras -

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

artículo científico publicado en 2012

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genotype resource for postmortem brain samples from the Autism Tissue Program

artículo científico publicado en 2011

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

artículo científico publicado en 2011

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

artículo científico publicado en 2014

Copy number variation in Han Chinese individuals with autism spectrum disorder

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

artículo científico publicado en 2012

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

artículo científico publicado en 2017

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

artículo científico publicado en 2017

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

artículo científico publicado en 2015

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

artículo científico publicado en 2013

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

artículo científico publicado en 2014

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

artículo científico publicado en 2013

Performance of case-control rare copy number variation annotation in classification of autism

artículo científico publicado en 2015

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

artículo científico publicado en 2011

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

artículo científico publicado en 2012

Rare deletions at the neurexin 3 locus in autism spectrum disorder

artículo científico publicado en 2012

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

artículo científico publicado en 2013

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

Structural variation of chromosomes in autism spectrum disorder

artículo científico publicado en 2008

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

artículo científico publicado en 2014

Lista de obras de

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A genome-wide scan for common alleles affecting risk for autism

A genotype resource for postmortem brain samples from the Autism Tissue Program

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

Copy number variation in Han Chinese individuals with autism spectrum disorder

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

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Functional impact of global rare copy number variation in autism spectrum disorders

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Performance of case-control rare copy number variation annotation in classification of autism

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

Rare deletions at the neurexin 3 locus in autism spectrum disorder

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

SHANK1 Deletions in Males with Autism Spectrum Disorder

Structural variation of chromosomes in autism spectrum disorder

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes