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Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
Human Molecular Genetics|May 9, 2008
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanismSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Human Gene Therapy|December 6, 2012
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosisSanford L Boye, Igor V Peshenko, Wei Chieh Huang, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathyTomas S Aleman, Nagasamy Soumittra, Artur V Cideciyan, et al.
American Journal of Human Genetics|December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman, Bo Chang, Chitra Kannabiran, 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.
Human Molecular Genetics|August 7, 2013
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt diseaseTerry A Braun, Robert F Mullins, Alex H Wagner, et al.
Cell|December 9, 1997
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptorC L Freund, C Y Gregory-Evans, T Furukawa, et al.
Nature Genetics|November 4, 2000
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
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