Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

Almost 1,500 genes have been implicated in intellectual disabilities; yet for most people with such disabilities, genetic causes remain unknown. Perhaps this is in part because geneticists have been ...

Euan Ashley's lab explores the intricate interactions of gene variants. Tiny "typos," or genetic mutations, can sneak into ...

Non-protein-coding genes have been linked to a hereditary condition, retinitis pigmentosa, that causes progressive blindness.

Add Yahoo as a preferred source to see more of our stories on Google. No single gene causes OCD, but identifying the genetic markers linked to the condition can help clarify how it develops. Viktoria ...

Non-DNMT3A CHIP subtypes are associated with a higher incidence of heart failure compared to DNMT3A CHIP carriers. Significant associations with heart failure were found for most CHIP subtypes, except ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...

Among patients with SLE-associated PAH, those with rare PAH-related gene variants have a unique vasculopathy phenotype and worse outcomes.