R. Hockey

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

G. Fishman, E. Stone, D. Derlacki, 1999, Archives of ophthalmology.

Evidence of shared genetic factors in the aetiology of gastrointestinal disorders and endometriosis and clinical implications for disease management

G. Montgomery, S. Mortlock, G. Mishra, 2022, medRxiv.

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Jean Bennett, Val C. Sheffield, Edwin M. Stone, 2000, Nature Genetics.

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

V. Sheffield, R. Ritch, J. Dickinson, 1999, Human molecular genetics.

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

V. Sheffield, E. Stone, A. Webster, 1998, Nature Genetics.