Verena Keitel

This study identifies a missense variant in FXR that impairs its conformational transition to an active state, leading to reduced BSEP expression and a PFIC phenotype.

This paper presents an optimized workflow for isolating and analyzing extracellular vesicles from plasma and serum in liver diseases, identifying miRNAs and cytokines as potential biomarkers.

Vasor is a machine learning model that accurately predicts the pathogenicity of MDR3 missense variants, outperforming existing tools and providing a webserver for predictions.