Deepa Soundara Rajan

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.