Sanne Broekman

This study uses AlphaFold2 to predict viable hybrid domains from exon skipping combinations in USH2A, expanding therapeutic options for Usher syndrome.

This study investigates the role of usherin in zebrafish sleep regulation, finding altered sleep-wake behavior in ush2a mutants despite normal circadian rhythms and melatonin release.

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

This study demonstrates that QR-421a induces exon 13 skipping in USH2A transcripts, restoring retinal function in zebrafish and non-human primates.