When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...

Genes contain instructions for making proteins, and a central dogma of biology is that this information flows from DNA to RNA to proteins. But only two percent of the human genome actually encodes ...

Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...