Background Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-
to-female ratio that is purported to arise from the so-called female protective effect. A serious�…

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and
heterogeneous aetiology. It is primarily characterized by altered cognitive ability including�…

Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in
communication and reciprocal social interaction, and the presence of restricted and�…

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…

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Both rare and common genetic variants underlie risk for almost any complex disease. Over
the past few years a common tool for identifying common risk variants is genome-wide�…

De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We�…

Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are
enriched in'mutation intolerant'genes. We show how such observations can be interpreted in�…

Although germline de novo copy number variants (CNVs) are known causes of autism
spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number�…

Autism is a common and genetically heterogeneous disorder, with an estimated heritability
of> 90%. Its specific underlying causes are largely unknown. Here, I propose that low levels�…