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

Psychiatric disorders in children with 16p11.2 deletion and duplication

(2019) Maria Niarchou et al.   Translational Psychiatry

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

(2018) Brett Trost et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2018) Gregory Costain et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY)

(2018) S. van Rijn et al.   GENES BRAIN AND BEHAVIOR

Psychiatric genetics and the structure of psychopathology

(2018) Jordan W. Smoller et al.   MOLECULAR PSYCHIATRY

Genetics of attention deficit hyperactivity disorder

(2018) Stephen V. Faraone et al.   MOLECULAR PSYCHIATRY

Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis

(2018) Claire Mauger et al.   NEUROPSYCHOLOGY REVIEW

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders

(2018) Ambra Rizzo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

(2018) Itaru Kushima et al.   Cell Reports

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

(2017) Mehdi Zarrei et al.   GENETICS IN MEDICINE

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

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

(2017) Chelsea Lowther et al.   Current Psychiatry Reports

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

(2017) Chelsea Lowther et al.   Genome Medicine

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

(2016) Chelsea Lowther et al.   GENETICS IN MEDICINE

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

(2016) Matthew J. Gazzellone et al.   Journal of Neurodevelopmental Disorders

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

(2016) O Mercati et al.   MOLECULAR PSYCHIATRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Christian R Marshall et al.   NATURE GENETICS

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

(2016) Andrea J. Gonzalez-Mantilla et al.   JAMA Psychiatry

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family

(2015) Linh T.T. Duong et al.   European Journal of Medical Genetics

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Clinically relevant copy number variations detected in cerebral palsy

(2015) Maryam Oskoui et al.   Nature Communications

A high-resolution copy-number variation resource for clinical and population genetics

(2014) Mohammed Uddin et al.   GENETICS IN MEDICINE

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

(2014) A. C. Lionel et al.   HUMAN MOLECULAR GENETICS

Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

(2014) Lauren M. McGrath et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) G. Costain et al.   HUMAN MOLECULAR GENETICS

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

Heterozygous mutations in PALB2 cause DNA replication and damage response defects

(2013) Jenni Nikkilä et al.   Nature Communications

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Risk factors for autism: translating genomic discoveries into diagnostics

(2011) Stephen W. Scherer et al.   HUMAN GENETICS

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

(2010) Dalila Pinto et al.   NATURE

A global map of human gene expression

(2010) Margus Lukk et al.   NATURE BIOTECHNOLOGY

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AmiGO: online access to ontology and annotation data

(2008) Seth Carbon et al.   BIOINFORMATICS

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

NFAT signaling in neural development and axon growth

(2007) Tuan Nguyen et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE