Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …

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 …

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N =
2,591 families) replicates prior findings of strong association with autism spectrum disorders (…

Spontaneously arising (de novo) mutations have an important role in medical genetics. For
diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the …

Male preponderance in autistic behavioral impairment has been explained in terms of a
hypothetical protective effect of female sex, yet little research has tested this hypothesis …

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation.
We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of …

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the
general population, but the effects of this risk are unclear in people not ascertained for …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant associations, …