Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, ...