Laina G. Lusk

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.

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

This study examines the longitudinal course of CACNA1A-related hemiplegic migraine in children, finding unpredictable severity and timing of events with no clear correlation with epilepsy.

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.