"We were struck by how common this disorder is" when compared with other rare diseases linked to a single gene, said Ernest Turro, PhD, of the Icahn School of Medicine at Mount Sinai, senior ...

The research identified a novel mutation in the Tlx3 gene linked to abnormal cerebellum development-a major region of the ...

Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.

They are a leading cause of disease burden and deaths around the globe, are physically and economically taxing, and the number of people with such diseases is growing. Treating chronic disease has ...

A single modification in the protein found on the surface of the highly pathogenic avian influenza (HPAI) H5N1 influenza virus currently circulating in U.S. dairy cows could allow for easier ...