Agnieszka Nadel

This study identifies RBMXL3 as a primate-specific RNA-binding protein that regulates RNA metabolism and suppresses LINE-1 retrotransposition in human spermatogenesis.

The paper develops chamber-specific 3D human Engineered Heart Tissue (EHT) models to study KCa2 channel inhibitors and their effects on atrial fibrillation.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

This study develops OCR-Stats, a statistical method to improve the accuracy of mitochondrial respiration measurements from Seahorse XF Analyzer data by addressing noise and variation across plates and wells.