The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

Next-generation sequencing (NGS) is now more accessible to clinicians and researchers.
As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has …

Natural genetic variation in the human genome is a cause of individual differences in
responses to medications and is an underappreciated burden on public health. Although …

Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk
globally. Large-scale schizophrenia genetic studies have reported primarily on European …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …

RNA-binding proteins (RBPs) play key roles in post-transcriptional regulation. Accurate
identification of RBP binding sites in multiple cell lines and tissue types from diverse species …

INTRODUCTION The human cerebral cortex has undergone an extraordinary increase in
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …