Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Leber congenital amaurosis: Genes, proteins and disease mechanisms

den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811

A comprehensive review of retinal gene therapy

Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262

Gene therapy rescues cone function in congenital achromatopsia

Komáromy, A. M., Alexander, J. J., Rowlan, J. S., Garcia, M. M., Chiodo, V. A., Kaya, A., Tanaka, J. C., Acland, G. M., Hauswirth, W. W., & Aguirre, G. D. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq136 · Cited by 217

Photoreceptor Cilia and Retinal Ciliopathies

Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194

Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation in Gnat2

Chang, B., Dacey, M. S., Hawes, N. L., Hitchcock, P. F., Milam, A. H., Atmaca-Sonmez, P., Nusinowitz, S., & Heckenlively, J. R. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-1468 · Cited by 157

Progressive loss of cones in achromatopsia. An imaging study using spectral-domain optical coherence tomography

Thiadens, A. A. H. J., Somervuo, V., van den Born, L. I., Roosing, S., van Schooneveld, M. J., Kuijpers, R. W. A. M., van Moll-Ramirez, N., Cremers, F. P. M., Hoyng, C. B., & Klaver, C. C. W. (2010) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.10-5680 · Cited by 148

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

Banin, E., Gootwine, E., Obolensky, A., Ezra-Elia, R., Ejzenberg, A., Zelinger, L., Honig, H., Rosov, A., Yamin, E., Sharon, D., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.114 · Cited by 113

Superior retinal gene transfer and biodistribution profile of subretinal versus intravitreal delivery of AAV8 in nonhuman primates

Seitz, I. P., Michalakis, S., Wilhelm, B., Reichel, F. F., Ochakovski, G. A., Zrenner, E., Ueffing, M., Biel, M., Wissinger, B., Bartz-Schmidt, K. U., et al. (2017) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.17-22473 · Cited by 108

Gene therapy for retinal disease

McClements, M. E., & MacLaren, R. E. (2013) · Translational Research · doi:10.1016/j.trsl.2012.12.007 · Cited by 80

Safety and biodistribution evaluation in cynomolgus macaques of rAAV2tYF-PR1. 7-hCNGB3, a recombinant AAV vector for treatment of achromatopsia

Ye, G.-J., Budzynski, E., Sonnentag, P., Nork, T. M., Miller, P. E., Sharma, A. K., Ver Hoeve, J. N., Smith, L. M., Arndt, T., Calcedo, R., et al. (2016) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2015.164 · Cited by 64

REforge associates transcription factor binding site divergence in regulatory elements with phenotypic differences between species

Langer, B. E., Roscito, J. G., & Hiller, M. (2018) · Molecular Biology and Evolution · doi:10.1093/molbev/msy187 · Cited by 8