Germline knockout of Nr2e3 protects photoreceptors in three distinct mouse models of retinal degeneration

AV Kolesnikov, DP Murphy… - Proceedings of the …, 2024 - National Acad Sciences
Retinitis pigmentosa (RP) is a common form of retinal dystrophy that can be caused by
mutations in any one of dozens of rod photoreceptor genes. The genetic heterogeneity of RP …

Device-free isolation of photoreceptor cells from patient iPSC-derived retinal organoids

NE Stone, LR Bohrer, NK Mullin, J Cooke, AT Wright… - bioRxiv, 2024 - biorxiv.org
Autologous photoreceptor cell replacement therapy shows great promise for treating
patients with multiple forms of inherited retinal degenerative blindness. Specifically, in …

Exonic splice variant discovery using in vitro models of inherited retinal disease

NK Mullin, LR Bohrer, KR Anfinson, JL Andorf… - bioRxiv, 2024 - biorxiv.org
Correct identification of the molecular consequences of pathogenic genetic variants is
essential to the development of allele-specific therapies. However, in some cases, such …