Benjamin Meder

This study uses time-resolved single-cell CRISPR screening and a multiome atlas to uncover dynamic gene regulatory networks in human cardiogenesis, identifying stage-specific regulators and CHD-linked gene functions.

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper describes an ex vivo study using normothermic machine-perfused human hearts to evaluate AAV-mediated gene delivery for cardiac gene therapy.

The paper uses single molecule long-read sequencing to analyze transcriptomes in heart failure patients and controls, identifying novel isoforms and convergent isoform changes across different cardiomyopathy types.

This study shows that reverse cardiac remodeling is a constrained multicellular state with partial recovery of metabolic programs but persistent inflammatory-mitochondrial dysfunction, mediated by lymphatic-derived Reelin.

Arrhythpy quantifies and classifies arrhythmias in iPSC-CMs using Ca2+ transients, showing its utility in disease models and drug response analysis.

This study compares patient-specific stem cell models of RBM20 mutations causing dilated cardiomyopathy and left ventricular non-compaction, identifying distinct molecular, cellular, and functional impairments.

The paper develops a targeted Nanopore direct rRNA sequencing approach to assess disease-associated rRNA modifications in human cells and tissues.

The paper identifies a SNP in lncRNA H19 that alters its secondary structure and is associated with Dilated Cardiomyopathy, suggesting structural changes in lncRNAs may explain hidden genetic variance.

The paper develops a pipeline to identify and quantify full-length RNA isoforms, revealing disease-associated isoforms in cardiomyocytes with RBM20 mutations.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.