Theodore G. Drivas

The paper identifies ciliary proteins that regulate melanogenesis in melanocytes and reveals moonlighting roles for Joubert Syndrome proteins in endolysosomal organization.

This paper develops a two-step genetic risk model for brain arteriovenous malformations (bAVM) using rare Mendelian variants and a polygenic risk score, identifying high-risk individuals with improved screening efficiency.

This study analyzes genetic testing outcomes and utilization patterns in 10,000 adult patient encounters, finding high diagnostic yield and indication-specific variation in test results.

This paper develops an open-source LLM-based pipeline to identify patients with rare genetic aortopathies using clinical notes, achieving high accuracy in recommending genetic testing.

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

This study evaluates the reliability of coronary artery disease polygenic risk scores across diverse populations, finding poor individual agreement despite equivalent population-level performance.

This study finds that universal exome sequencing in critically ill adults yields a 25% diagnostic rate and highlights race-based disparities in genetic diagnosis documentation.

The paper identifies an alternative splicing variant of OAS1 that provides protection against severe COVID-19 in people of African ancestry, independent of Neanderthal haplotypes.

eQTpLot visualizes and colocalizes eQTL and GWAS signals for gene-trait pairs through customizable plots.

The paper identifies 73 gene-trait associations between ciliary genes and common laboratory traits in the UK BioBank, revealing distinct roles of ciliary subcompartments in common disease pathogenesis.

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.