Damian Fermin

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

This study uses a Drosophila model to functionally assess COL4A5 variants for pathogenicity in Alport syndrome, identifying four pathogenic variants and three benign ones.

This study identifies PAF1 and FACT as essential for enhancer activity in MLL-AF4-driven leukemia by maintaining histone acetylation and enhancer-promoter interactions.

This study uses single-cell RNA sequencing to identify a mechanosensitive MRTF-SRF pathway in early diabetic nephropathy, validated in human datasets and ex vivo experiments.

The paper presents a contiguous de novo genome assembly of sugar beet EL10 using long-read sequencing and scaffolding, showing high congruence with the reference genome and reduced gene copy number variation.

The paper introduces a protein-centric method to aggregate exome variants for association analysis with clinical outcomes, identifying sequence units predictive of survival that conventional gene-level analysis misses.

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

The paper identifies eQTLs in glomerular and tubulointerstitial kidney tissues from nephrotic syndrome patients, finds tissue-specific eQTLs, and integrates them with a GWAS to identify associated genes.

iOmicsPASS integrates multi-omics data over biological networks to predict phenotypes and identify predictive subnetworks, improving prediction quality compared to methods without relational information.