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 study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role ...

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

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

Alzforum webpages for each DIAN-TU-eligible variant now state “DIAN-TU eligibility: Yes” near the top of the page and an explanation under the Pathogenicity section (see, for example, PSEN1 M146V ).

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

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

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

A new research paper was published in Oncotarget, Volume 16, on April 4, 2025, titled “Association between two single ...

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 ...