Erkin Kurganov

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study analyzes 42 de novo CACNA1A missense variants in neurodevelopmental disorders, finding most alter channel function and correlate with clinical outcomes.

This study investigates how different GRIN2A mutations linked to schizophrenia, epilepsy, and developmental disorders affect NMDA receptor function, revealing distinct functional consequences.