Individuals with intellectual disability have an increased burden of de novo variants in cis-regulatory elements of glutamatergic neurons.
Eric Sosa, Dónal O’Shea, Samuel Rosean, Caroline Yoon, Jacob Stauber, Pablo E. Castillo, Cathal Seoighe, Melissa J. Fazzari, John M. Greally
medRxiv · Sep 23, 2025 · PreprintGenetic & Genomic Medicine