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Human Molecular Genetics|February 26, 2015
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerationsNing Zhang, Yaroslav Tsybovsky, Alexander V Kolesnikov, et al.Investigative Ophthalmology & Visual Science|April 4, 2008
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutationsTomas S Aleman, Artur V Cideciyan, Alexander Sumaroka, et al.Human Mutation|May 12, 2009
Predicting the pathogenicity of RPE65 mutationsA R Philp, M Jin, S Li, et al.Vision Research|November 30, 2022
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutationsArtur V Cideciyan, Samuel G Jacobson, Alexander Sumaroka, et al.Proceedings of the National Academy of Sciences of the United States of America|January 24, 2013
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvementArtur V Cideciyan, Samuel G Jacobson, William A Beltran, et al.Nature Genetics|February 14, 1998
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosaP Banerjee, P W Kleyn, J A Knowles, et al.Investigative Ophthalmology & Visual Science|November 24, 2011
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK geneEdwin M Stone, Xunda Luo, Elise Héon, 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.Investigative Ophthalmology & Visual Science|May 17, 2017
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 GeneSamuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, et al.Pageof 57