Nikita R. Dsouza

This study introduces a method to score protein surface property changes for interpreting genomic variants, showing significant differences in charge distribution for known pathogenic variants.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper identifies a novel alternatively spliced HP1g isoform, sHP1g, lacking the chromoshadow domain, and shows its expression across tissues and dysregulation in cancers.

The paper develops and evaluates 3D structure-based scores for genomic variants and integrates them with sequence-based scores to better understand how variants affect protein function in the RAS gene family.