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 …

De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far
analyses have mainly been on the~ 1.5% of the genome encoding genes. Here, we performed …

The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from
de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been
reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental …

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 …