Alina Ivaniuk

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 creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.

The paper curates and analyzes 71,942 epilepsy-related variants from ClinVar using Mondo and ILAE classifications to identify age-specific genetic contributors and shared pathways.

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.

The paper uses natural language processing and phenome-wide analysis to identify tachycardia as a significant comorbidity in CDKL5 deficiency disorder.