Sinisa Savic

PanelAppRex aggregates and standardizes disease gene panels to enable efficient search and integration into bioinformatic workflows, recovering causal genes in all benchmarked cases.

This paper introduces a statistical framework to quantify prior probabilities of disease-causing variants in inborn errors of immunity, revealing top genetic contributors and validating results in national cohorts.

The paper predicts clinically relevant variants in RAG1 and RAG2 by analyzing mutation rates and residue frequencies to identify disease-causing mutations.

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

This study shows that excessive ENaC-mediated sodium influx drives NLRP3 inflammasome-dependent autoinflammation in Cystic Fibrosis, with potential therapeutic implications for lung inflammation.