Children with autism have an elevated frequency of large, rare copy number variants
(CNVs). However, the global load of deletions or duplications, per se, and their size, location …

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 …

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 …

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

Aim Several studies have suggested that rare copy number variants (CNV s) are an
important genetic contributor to autism spectrum disorders. The aims of the study were to …

Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of
individuals with autism. However, levels of autism risk conferred by most rare CNVs remain …

Structural variation is thought to play a major etiological role in the development of autism
spectrum disorders (ASDs), and numerous studies documenting the relevance of copy …

While copy number variation (CNV) is an active area of research, de novo mutation rates
within human populations are not well characterized. By focusing on large (> 100 kbp) …

The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects has proven a productive approach to highlight risk genes for autism spectrum …