Carsten Bergmann

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

This study shows BICC1 interacts with PKD1 and PKD2, exacerbating ADPKD severity through RNA metabolism, using animal models, genetic studies, and human cohorts.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.