Katarzyna Szymańska

The paper shows that a nonsense mutation in CCND2 stabilizes Cyclin D2 in iPSC models of MPPH, while frameshift mutations do not, affecting neurogenesis.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

This study identifies UBE2E1 and MKS1 as components of the ubiquitin proteasome system regulating Wnt signaling at the primary cilium, linking ciliary defects to ciliopathy pathogenesis.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.