Jason Ciril Kovacic

This study shows EHD1 promotes inflammation and stabilizes sortilin in macrophages, accelerating atherosclerosis through enhanced TNFR2-NF-kB signaling and endocytic recycling.

This study identifies a STING-STAT3-SOX18 axis driving EndMT and epigenetic reprogramming in SAVI lung fibrosis, suggesting STING as a therapeutic target.

This study performs a meta-analysis of scRNA-seq datasets to map human atherosclerosis cell diversity and identifies disease-relevant vascular cell states and markers.

This study identifies FHL5 as a causal gene for vascular disease risk through eQTL colocalization and functional analyses, showing its role in vascular remodeling and calcification.

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

The paper uses single-cell ATAC-seq to analyze coronary artery cells from CAD patients, identifying regulatory mechanisms and risk variants associated with disease.

This study uses transcriptome-wide association analysis to identify 114 genes associated with coronary artery disease, including 18 novel genes, and shows they are enriched in lipid metabolism pathways.

The paper identifies rare loss-of-function mutations in PTGIR in FMD and SCAD patients, showing impaired prostacyclin receptor function and suggesting a role for prostacyclin signaling in these diseases.

EnsembleCNV improves CNV detection and genotyping using SNP arrays, achieving high accuracy and sensitivity for downstream GWAS.