Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …

Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds
of susceptibility loci. Previous microarray and exome-sequencing studies have examined …

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

We have systematically compared copy number variant (CNV) detection on eleven microarrays
to evaluate data quality and CNV calling, reproducibility, concordance across array …

Importance The use of genome-wide tests to provide molecular diagnosis for individuals with
autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal …

Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition
characterized by developmentally atypical and impairing inattention, hyperactivity, and …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …