Rob W.J. Collin

This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.

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 compares the lipidomic profiles of iPSC-derived retinal organoids and RPE with post-mortem human retina to assess their similarity.

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.

Daily light exposure improves photoreceptor maturation in retinal organoids without causing cell death.

This study uses expansion microscopy to investigate LCA5-related photoreceptor defects and evaluates gene therapy efficacy in a mouse model.

This study demonstrates that antisense oligonucleotides can correct splicing defects in the ABCA4 c.5461-10T>C variant, restoring protein function in retinal organoids.