Lista de obras -

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

artículo científico publicado en 2018

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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

artículo científico publicado en 2012

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

artículo científico publicado en 2013

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

A large data resource of genomic copy number variation across neurodevelopmental disorders

artículo científico publicado en 2019

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

artículo científico publicado en 2017

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

artículo científico publicado en 2016

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

artículo científico publicado en 2020

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

artículo científico publicado en 2014

Clinically relevant copy number variations detected in cerebral palsy

artículo científico publicado en 2015

Contribution of SHANK3 mutations to autism spectrum disorder

artículo científico publicado en 2007

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

artículo científico publicado en 2014

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Copy-number variation in control population cohorts

artículo científico publicado en 2007

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

artículo científico publicado en 2017

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

artículo científico publicado en 2013

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

Gene and miRNA expression profiles in autism spectrum disorders

artículo científico publicado en 2010

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

artículo científico publicado en 2020

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

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

artículo científico publicado en 2019

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

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

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

artículo científico publicado en 2016

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

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

artículo científico publicado en 2016

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

artículo científico publicado en 2015

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

artículo científico publicado en 2010

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

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

artículo científico publicado en 2018

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

artículo científico publicado en 2016

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

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

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

artículo científico publicado en 2014

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

Structural variation of chromosomes in autism spectrum disorder

artículo científico publicado en 2008

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

artículo científico publicado en 2016

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

artículo científico publicado en 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease

artículo científico publicado en 2017

Lista de obras de

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

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

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

A large data resource of genomic copy number variation across neurodevelopmental disorders

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Clinically relevant copy number variations detected in cerebral palsy

Contribution of SHANK3 mutations to autism spectrum disorder

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

Copy-number variation in control population cohorts

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

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

Gene and miRNA expression profiles in autism spectrum disorders

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

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

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Genome-wide characteristics of de novo mutations in autism

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

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

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

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

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

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

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

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

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

SHANK1 Deletions in Males with Autism Spectrum Disorder

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Structural variation of chromosomes in autism spectrum disorder

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

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

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Whole-genome sequencing of quartet families with autism spectrum disorder

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease