Stefan Kääb

This study identifies pathogenic autoantibodies against DSG2 in ACM patients that impair cardiomyocyte cohesion via GSK-3β activation.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

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.

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.