Characterized by a combination of abnormalities in language, social cognition and mental
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …

The sequence of the human genome has dramatically accelerated biomedical research.
Here I explore its impact, in the decade since its publication, on our understanding of the …

Sequencing of gene-coding regions (the exome) is increasingly used for studying human
disease, for which copy-number variants (CNVs) are a critical genetic component. However …

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

Although genome-wide association (GWA) studies for common variants have thus far
succeeded in explaining only a modest fraction of the genetic components of human …

Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …

To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied
genomic copy-number variation in a large cohort of families with a single affected child and …

Strong evidence suggests that rare mutations of severe effect are responsible for a
substantial portion of complex human disease. Evolutionary forces generate vast genetic …

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and
their interactions. Research on pathogenesis has traditionally focused on neurotransmitter …