We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …

Rare copy-number variants (CNVs) have been implicated in autism and intellectual
disability. These variants are large and affect many genes but lack clear specificity toward …

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders
(ASD), and several of these have reached statistical significance in case–control analyses …

Recurrent deletions and duplications at chromosomal region 16p11. 2 are a major genetic
contributor to autism but also associate with a wider range of pediatric diagnoses, including …

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism
spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored …

Background Several copy number variants (CNVs) have been implicated as susceptibility
factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism …

Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number …

Copy number variations (CNVs) are a major cause of genetic disruption in the human
genome with far more nucleotides being altered by duplications and deletions than by single …

Individuals with autism are more likely to carry rare inherited and de novo copy number
variants (CNVs). However, further research is needed to establish which CNVs are causal …

Rare mutations, including copy-number variants (CNVs), contribute significantly to autism
spectrum disorder (ASD) risk. Although their importance has been established in families …