Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United ...

A new set of genes that contribute to Parkinson’s disease risk has been identified.

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving ...

Genome wide association studies (GWAS) have identified hundreds of genome regions containing thousands of genetic variants ...

A longstanding mystery in Parkinson's disease research has been why some individuals carrying pathogenic variants that increase their risk of PD go on to develop the disease, while others who also ...

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper ...

Atherosclerosis is when plaque forms in the arteries. This can lead to blood clots that may suddenly stop blood supply; when ...

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children's Hospital of Philadelphia (CHOP) have completed a comprehensive natural history study of SCN8A-related disorders, which ...

A new study combines genetic data and improved computational tools to look more closely at GWAS results for both adult-onset and childhood-onset asthma. The research identified many genetic variants ...