Sameer M. Zuberi

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.

Transcription factor binding and individual genetic risk for valproate teratogenicity

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

The paper identifies biological properties of ion channel residues associated with variant pathogenicity and links them to clinical phenotypes and functional assays.