CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

(2015) Jie Hu et al.   Journal of Neurodevelopmental Disorders

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Increased female autosomal burden of rare copy number variants in human populations and in autism families

(2015) G Desachy et al.   MOLECULAR PSYCHIATRY

An assessment of sex bias in neurodevelopmental disorders

(2015) Andrew Polyak et al.   Genome Medicine

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The impact of chromosomal microarray on clinical management: a retrospective analysis

(2014) Lindsay B. Henderson 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

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

PPP3CC gene: a putative modulator of antidepressant response through the B-cell receptor signaling pathway

(2014) C Fabbri et al.   PHARMACOGENOMICS JOURNAL

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

(2014) Anna A Kashevarova et al.   Molecular Cytogenetics

Transmission Disequilibrium of Small CNVs in Simplex Autism

(2013) Niklas Krumm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

Chromosomal microarray impacts clinical management

(2013) E.R. Riggs et al.   CLINICAL GENETICS

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

(2013) Sureni V Mullegama et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

(2013) Tracy Tucker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial KANK1 deletion that does not follow expected imprinting pattern

(2013) Rena J. Vanzo et al.   European Journal of Medical 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

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2

(2012) Aimé Lumaka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

(2012) John C K Barber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome

(2012) Claudia Kerzendorfer et al.   HUMAN MOLECULAR GENETICS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance assessment of copy number microarray platforms using a spike-in experiment

(2011) Eitan Halper-Stromberg et al.   BIOINFORMATICS

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

(2011) Juan R González et al.   BMC BIOINFORMATICS

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

(2011) Charlene Sibbons et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

(2011) Linda M. Reis et al.   HUMAN GENETICS

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

(2011) Damien L. Bruno et al.   HUMAN MUTATION

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians

(2011) Norihiro Kato et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Understanding the impact of 1q21.1 copy number variant

(2011) Chansonette Harvard et al.   Orphanet Journal of Rare Diseases

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

(2011) Detelina Grozeva et al.   SCHIZOPHRENIA RESEARCH

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

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

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

(2010) Michael S.L. Ching et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

(2010) Ye Wu et al.   BMC Medical Genetics

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

(2010) Ester Saus et al.   JOURNAL OF PSYCHIATRIC RESEARCH

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

(2010) Dalila Pinto et al.   NATURE

Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC

(2010) Cheng Quan et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21

(2009) Xue-Jun Zhang et al.   NATURE GENETICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

(2009) Jian-Wen Han et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Epidemiology of Pervasive Developmental Disorders

(2009) Eric Fombonne   PEDIATRIC RESEARCH

Copy-number variants in neurodevelopmental disorders: promises and challenges

(2009) Alison K. Merikangas et al.   TRENDS IN GENETICS

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

(2008) Farkhondeh Behjati et al.   European Journal of Medical Genetics

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Copy-number variations associated with neuropsychiatric conditions

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

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE