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Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176, Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794
El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297
Proceedings Paper
van Genderen, MM, Khan, KN, Robson, A et al. (3 more authors) (2018) Clinical and molecular characteristics of CRB1‐associated maculopathy. In: Acta Ophthalmologica. Netherlands Ophthalmological Society (NOG) Annual Congress, 21-23 Mar 2018, Groningen, The Netherlands. Wiley , p. 28.