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 ...

A new software package called CREsted, published in Nature Methods, gives researchers an end-to-end workflow for modeling and ...

A massive new genetic analysis reveals that the biological traits underlying autism risk are the same across people of ...

More than 60 years after its discovery, scientists are still learning surprising ways DNA stores and translates instructions ...

A newly identified cellular system monitors subtle variations in genetic coding, hinting at a hidden level of control over ...

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 ...

Non-coding DNA variants contribute to acute lymphoblastic leukemia (ALL) chemotherapy resistance. St. Jude Children's Research Hospital scientists have identified specific DNA variants in the ...

There are some genes that can promote cancer; they are sometimes called oncogenes, and in tumor cells, mutations are often found in these genes. When they are functioning normally, oncogenes are often ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

(L to R) Co-first author Jackson Mobley, PhD, corresponding author Daniel Savic, PhD, and co-first author Kashi Raj Bhattarai, PhD, all of the St. Jude Department of Pharmacy and Pharmaceutical ...