Erik de Vrieze

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 develops patient-derived inner ear organoids to evaluate antisense oligonucleotide therapies for hereditary hearing loss, showing effective ASO uptake and splice correction in disease models.

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

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

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 generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

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.

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.

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.