Ronald J. E. Pennings

The paper identifies two novel deep-intronic PCDH15 variants in Usher syndrome patients and demonstrates the efficacy of antisense oligonucleotides in correcting their splicing defects.

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

This study demonstrates that antisense oligonucleotides targeting the c.151C>T mutation in COCH can reduce mutant transcript levels in transgenic cells, suggesting potential as a therapy for DFNA9.

The paper identifies an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss, with implications for genetic therapy.