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Investigative Ophthalmology & Visual Science|July 7, 1999
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerationsY Q Gao, M Danciger, R Longmuir, et al.Human Mutation|May 12, 2009
Predicting the pathogenicity of RPE65 mutationsA R Philp, M Jin, S Li, et al.Investigative Ophthalmology & Visual Science|June 14, 2000
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosaS G Jacobson, A V Cideciyan, A Iannaccone, et al.Neuron|January 14, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degenerationP K Swain, S Chen, Q L Wang, et al.American Journal of Human Genetics|December 18, 1997
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaM Buraczynska, W Wu, R Fujita, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|March 20, 2001
Mutations in the CRB1 gene cause Leber congenital amaurosisA J Lotery, S G Jacobson, G A Fishman, et al.Investigative Ophthalmology & Visual Science|May 1, 2001
An analysis of allelic variation in the ABCA4 geneA R Webster, E Héon, A J Lotery, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|April 15, 2000
Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery, P Namperumalsamy, S G Jacobson, et al.Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.Pageof 21