Sherif Gerges

The paper develops a framework to map rare variants onto protein structures and identifies disease-associated 3D neighborhoods in 872 genes for Mendelian disease and others for autism, epilepsy, and schizophrenia.

The paper integrates genetic, transcriptomic, and structural data to show that Ca2+ dysregulation via ATP2B2 missense variants contributes to neuropsychiatric disorders.

The paper identifies a neuron-astrocyte gene expression program, SNAP, that declines in aging and schizophrenia, linking it to cognitive function and genetic risk factors.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.