Nature genetics

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution.

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