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

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BEDTools: a flexible suite of utilities for comparing genomic features

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De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

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

(2010) Dalila Pinto et al.   NATURE

Dosage Sensitivity Shapes the Evolution of Copy-Number Varied Regions

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Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

(2010) Jayne Y. Hehir-Kwa et al.   PLoS Computational Biology

Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function

(2010) Soumya Raychaudhuri et al.   PLoS Genetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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Human copy number polymorphic genes

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

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Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Reduced purifying selection prevails over positive selection in human copy number variant evolution

(2008) D.-Q. Nguyen et al.   GENOME RESEARCH

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

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