<p>Autism spectrum disorders (ASDs) are highly heritable (~90%), yet the underlying genetic determinants are largely unknown. To understand the genetic and phenotypic heterogeneity in ASDs, we analyzed 2,611 strictly defined ASD families with over 1,000,000 single nucleotide polymorphisms (SNPs), and applied multiple analytical strategies to examine these families for SNPs and Copy Number Variation (CNVs) affecting risk for ASDs. Secondary analyses examined associations in more homogenous subgroups. Furthermore, the use of large control datasets permitted contrasting case and control samples and addressed the potential increased burden of rare CNVs in ASD. Our data have allowed us to discern key features of the ASD genomic architecture, find new susceptibility loci, and chart a course for future studies in ASDs.</p>

Autism Genome Project (AGP) Consortium - GWAS - Stage I and II

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

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

A genome-wide scan for common alleles affecting risk for autism

Individual common variants exert weak effects on the risk for autism spectrum disorders

Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes