Lacey A. Smith

CAMSAP3 loss of function models suggest causative role in generalized genetic epilepsy

The paper shows that CAMSAP3 loss of function leads to microtubule acetylation dysregulation and epileptic features in zebrafish and cultured cells.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

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.

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

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

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

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.

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

The paper introduces para-PS1/PM5 criteria by incorporating pathogenic paralogous variants to improve variant classification under ACMG guidelines, increasing classifiable amino acids 3.6-fold.