Schizophrenia has a heritability of 60–80% 1 , much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

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 …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …

Synapses are fundamental information-processing units of the brain, and synaptic dysregulation
is central to many brain disorders ("synaptopathies"). However, systematic annotation of …

Recent research has uncovered an important role for de novo variation in neurodevelopmental
disorders. Using aggregated data from 9,246 families with autism spectrum disorder, …

Background A central aim for studying runs of homozygosity (ROHs) in genome-wide SNP
data is to detect the effects of autozygosity (stretches of the two homologous chromosomes …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …