Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

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 …

Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation,
including SNPs and copy number variants (CNVs), and is enabled by accurate maps of …

The association of variants in complement factors H and B with age-related macular degeneration
has led to more intense genetic and functional analysis of the complement pathway. …

Attention deficit hyperactivity disorder (ADHD) is a complex condition with environmental
and genetic etiologies. Up to this point, research has identified genetic associations with …

To further investigate susceptibility loci identified by genome-wide association studies, we
genotyped 5,500 SNPs across 14 associated regions in 8,000 samples from a control group …

A case–control association study for advanced age-related macular degeneration was
conducted to explore several regions of interest identified by linkage. This analysis identified a …

Results of behavioral genetic and molecular genetic studies have converged to suggest that
genes substantially contribute to the development of attention deficit/hyperactivity disorder (…

Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …

The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD)
and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, …