A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A Prasad, D Merico… - G3: Genes …, 2012 - academic.oup.com
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 …

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population

N Matsunami, D Hadley, CH Hensel, GB Christensen… - PloS one, 2013 - journals.plos.org
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 …

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

D Salyakina, HN Cukier, JM Lee, S Sacharow… - PloS one, 2011 - journals.plos.org
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 …

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

D Moreno-De-Luca, SJ Sanders, AJ Willsey… - Molecular …, 2013 - nature.com
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 …

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

AJ Griswold, D Ma, HN Cukier… - Human molecular …, 2012 - academic.oup.com
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic
loci have been replicated. Copy number variations (CNVs) have been implicated in autism; …

Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders

R Luo, SJ Sanders, Y Tian, I Voineagu, N Huang… - The American Journal of …, 2012 - cell.com
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 …

Identification of candidate intergenic risk loci in autism spectrum disorder

S Walker, SW Scherer - BMC genomics, 2013 - Springer
Abstract Background Copy number variations (CNVs) and DNA sequence alterations
affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder …

Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

H Guo, Y Peng, Z Hu, Y Li, G Xun, J Ou, L Sun… - Scientific reports, 2017 - nature.com
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with
high heritability, although the underlying genetic determinants of ASDs remain largely …

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

A Bremer, MB Giacobini, M Eriksson… - American Journal of …, 2011 - Wiley Online Library
Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex
genetic etiology. We used high‐resolution whole genome array‐based comparative …

Detection and characterization of copy number variation in autism spectrum disorder

CR Marshall, SW Scherer - Genomic structural variants: methods and …, 2011 - Springer
There now exist multiple lines of evidence pointing to a significant genetic component
underlying the aetiology of autism spectrum disorders (ASDs). The advent of methodologies …