Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for example, …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

It is well established that autism spectrum disorders (ASD) have a strong genetic component;
however, for at least 70% of cases, the underlying genetic cause is unknown 1 . Under the …

We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …

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

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity 1 , 2 . We …

Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder
characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as …

The effects of alleles in many genes are believed to contribute to common complex diseases
such as hypertension. Whether risk alleles comprise a small number of common variants or …

Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …