More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …

We characterize the landscape of somatic mutations—mutations occurring after fertilization—
in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex …