Nikolaos I. Panousis

The paper validates an Alzheimer's disease-associated SNP in PTK2B that alters microglial function through changes in chromatin accessibility and gene expression.

The paper maps eQTLs in stimulated iPSC-derived macrophages and identifies condition-specific reQTLs that colocalize with disease-associated variants.

The paper maps cell-type-specific eQTLs in IBD patients to identify effector genes and mechanisms linking genetic risk to disease.

The paper develops GASPACHO to identify dynamic eQTLs in antiviral responses using single-cell RNA-seq, uncovering thousands of eQTLs and linking them to disease risk loci.

The paper identifies low-usage splice junctions as contributors to immune-mediated disease risk by linking sQTLs to disease loci and showing their impact on gene expression in inflammation.

The paper profiles gene expression in human microglia from 141 patients, identifies population shifts in acute brain injury, maps eQTLs, and fine-maps Alzheimer's risk variants using hIPSC-derived macrophages.

This study identifies disease-associated alterations in gene co-regulation patterns in SLE, showing fragmentation and redistribution of co-expression domains correlate with disease activity and biological pathways.

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

The paper uses single-cell transcriptomes to analyze gene dosage imbalance in aneuploidies, revealing both temporal and spatial dimensions of gene expression changes in trisomies.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

This study identifies distinct susceptibility and activity/severity signatures in SLE using transcriptomics and genetics, enabling improved diagnosis and personalized therapy.