The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …

Recent studies have established an important role for rare genomic deletions and duplications
in the etiology of schizophrenia. This research suggests that the genetic architecture of …

The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic spectrum
that consists of rare de novo or inherited variants in hundreds of genes and common …

We tested the hypothesis that de novo copy number variation (CNV) is associated with autism
spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on …

The extent to which large duplications and deletions contribute to human genetic variation
and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs…

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain
elusive. We hypothesize that individually rare structural variants contribute to the illness. …

Schizophrenia (SCZD) is a debilitating neurological disorder with a world-wide prevalence
of 1%; there is a strong genetic component, with an estimated heritability of 80–85% 1 . …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

Autism is a genetically complex neurodevelopmental syndrome in which language deficits
are a core feature. We describe results from two complimentary approaches used to identify …