Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of
which the majority are of unknown etiology. We perform targeted massively parallel …

How DNA methylation is interpreted and influences genome regulation remains largely
unknown. Proteins of the methyl-CpG-binding domain (MBD) family are primary candidates …

Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …