Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

Over the past decade, comprehensive sequencing efforts have revealed the genomic
landscapes of common forms of human cancer. For most cancer types, this landscape …

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …

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

We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

In the past decades, reductionism has dominated both research directions and funding
policies in clinical psychology and psychiatry. The intense search for the biological basis of …

We address the challenge of detecting the contribution of noncoding mutations to disease
with a deep-learning-based framework that predicts the specific regulatory effects and the …

During the course of a lifetime, somatic cells acquire mutations. Different mutational
processes may contribute to the mutations accumulated in a cell, with each imprinting a …

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 …