Katie Rose Sullivan

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.