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 ...

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

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

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

Researchers have completed a comprehensive natural history study of SCN8A-related disorders, which represent a spectrum of neurological symptoms. The study, using retrospective clinical information ...

Epigenetic variation, like genetic variation, can be inherited and influence traits across generations. However, epigenetic ...

Researchers have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.

A longstanding mystery in Parkinson's disease research has been why some individuals carrying pathogenic variants that ...