Franziska Paul

This study identifies a dominant CIDEC variant causing familial obesity by increasing lipid droplet size in adipocytes through structural and functional changes.

This study identifies rare DRG1 variants causing a recessive neurodevelopmental disorder and shows their functional impact on GTPase activity and protein stability.

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.