Eeva-Marja K. Sankila

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

J. Turunen, Maarjaliis Paavo, K. Wartiovaara, 2024, Human Mutation.

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants With RPGR-associated X-Linked Retinitis Pigmentosa

J. Duncan, T. Peters, Aaron Nagiel, 2024, Ophthalmology Science.

A Prospective, Observational, Non-Interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.

M. Pennesi, K. Stepien, Robert E. MacLaren, 2024, American journal of ophthalmology.