Refereed Journal Papers
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Papers Published in 2023
243. CIDECIYAN AV, JACOBSON SG, Ho AC, Swider M, Sumaroka A, Roman AJ, Wu V, Russell RC, Viarbitskaya I, Garafalo AV, Schwartz MR, Girach A. Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes. American Journal of Ophthalmology Case Reports 32:101873, 2023. [PubMed] [DOI]
242. Silson EH, Baker CI, ALEMAN TS, Maguire AM, Bennett J, Ashtari M. Motion-selective areas V5/MT and MST appear resistant to deterioration in choroideremia. Neuroimage Clin. 38:103384, 2023. [PubMed] [DOI]
241. Chen HY, Swaroop M, Papal S, Mondal AK, Song HB, Campello L, Tawa GJ, Regent F, Shimada H, Nagashima K, de Val N, JACOBSON SG, Zheng W, Swaroop A. Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects. Elife 12:e83205, 2023. [PubMed] [DOI]
240. Kim BJ, Grossman M, ALEMAN TS, Song D, Cousins KAQ, McMillan CT, Saludades A, Yu Y, Lee EB, Wolk D, Van Deerlin VM, Shaw LM, Ying GS, Irwin DJ. Retinal photoreceptor layer thickness has disease specificity and distinguishes predicted FTLD-Tau from biomarker-determined Alzheimer's disease. Neurobiology of Aging 125:74-82, 2023. [PubMed] [DOI]
239. Bennett J, Aleman EM, Maguire KH, Nadelmann J, Weber ML, Maguire WM, Maja A, O'Neil EC, Maguire AM, Miller AJ, ALEMAN TS. Optimization and validation of a virtual reality orientation and mobility test for inherited retinal degenerations. Translational Vision Science & Technology, 12:28, 2023. [PubMed] [DOI]
238. Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, ALEMAN TS. Ocular biomarkers of riboflavin transporter deficiency. Journal of Neuroophthalmology 43:110-115, 2023. [PubMed] [DOI]
237. Li Y, Bracha P, ALEMAN TS, Brucker AJ. Adult-onset BEST1-vitelliform dystrophy associated with angoid streak-like changes in two siblings. Retina Cases & Brief Reports 17:256-260, 2023. [PubMed] [DOI]
236. Strauss RW, Ho A, Jha A, Fujinami K, Michaelides M, CIDECIYAN AV, Audo I, Birch DG, Sadda S, Ip M, West S, Schönbach EM, Kong X, Scholl HPN; ProgStar Study Group. The progression of Stargardt Disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17). American Journal of Ophthalmology 250:157-170, 2023. [PubMed] [DOI]
235. Mascio AA, Roman AJ, CIDECIYAN AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, JACOBSON SG, Barbur JL. Color vision in blue cone monochromacy: Outcome measures for a clinical trial. Translational Vision Science & Technology, 12:25, 2023. [PubMed] [DOI]
234. CIDECIYAN AV, JACOBSON SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research, 203:108157, 2023. [PubMed] [DOI]
Papers Published in 2022
233. CIDECIYAN AV, Jacobson SG, Swider M, Sumaroka A, Sheplock R, Krishnan AK, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Heon E. Photoreceptor function and structure in autosomal dominant vitelliform macular dystrophy caused by BEST1 mutations. Investigative Ophthalmology & Visual Science, 63:12, 2022. [PubMed] [DOI]
232. Jacobson SG, CIDECIYAN AV, Ho AC, Roman AJ, Wu V, Garafalo AV, Sumaroka A, Krishnan AK, Swider M, Mascio AA, Kay CN, Yoon D, Fujita KP, Boye SL, Peshenko IV, Dizhoor AM, Boye SE. Night vision restored in days after decades of congenital blindness. iScience, 25:105274, 2022. [PubMed] [DOI]
231. Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, CIDECIYAN AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Morar JC, Kellner U, Reuther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, and Kohl S. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences USA, 119: e2115538119, 2022. [PubMed] [DOI]
230. Roman AJ, CIDECIYAN AV, Wu V, Mascio AA, Krishnan AK, Garafalo AV, Jacobson SG. Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. BMC Ophthalmol. 22:266, 2022. [PubMed] [DOI]
229. Russell SR, Drack AV, CIDECIYAN AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: A Phase 1b/2 trial. Nature Medicine, 28:1014-1021, 2022. [PubMed] [DOI]
228. Roman AJ, CIDECIYAN AV, Wu V, Garafalo AV, Jacobson SG. Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease. Progress in Retinal and Eye Research, 87:101000, 2022. [PubMed] [DOI]
227. CIDECIYAN AV, Jacobson SG, Ho AC, Krishnan AK, Roman AJ, Garafalo AV, Wu V, Swider M, Sumaroka A, Van Cauwenbergh C, Russell SR, Drack AV, Leroy BP, Schwartz MR, Girach A. Restoration of cone sensitivity to individuals with congenital photoreceptor blindness within the phase 1/2 sepofarsen trial. Ophthalmology Science, 2:100133, 2022. [PubMed] [DOI]
226. Kong X, Ibrahim-Ahmed M, Bittencourt MG, Strauss RW, Birch DG, CIDECIYAN AV, Ervin AM, Ho A, Sunness JS, Audo IS, Michaelides M, Zrenner E, Sadda S, Ip MS, West S, Scholl HPN; SMART Study Group. Longitudinal changes in scotopic and mesopic macular function as assessed with microperimetry in patients with Stargardt disease: SMART study report no. 2. American Journal of Ophthalmology, 236:32-44, 2022. [PubMed] [DOI]
225. Schönbach EM, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, CIDECIYAN AV, Sunness JS, Zrenner E, Sadda SR, Scholl HPN. Longitudinal changes of fixation stability and location within 24 months in Stargardt disease: ProgStar Report No. 16. American Journal of Ophthalmology, 233:78-89, 2022. [PubMed] [DOI]
Papers Published in 2021
224. Krishnan AK, Roman AJ, Swider M, Jacobson SG, CIDECIYAN AV. Macular rod function in retinitis pigmentosa measured with scotopic microperimetry. Translational Vision Science & Techology, 10:3, 2021. [PubMed] [DOI]
223. CIDECIYAN AV, Krishnan AK, Roman AJ, Sumaroka A, Swider M, Jacobson SG. Measures of function and structure to determine phenotypic features, natural history, and treatment outcomes in inherited retinal diseases. Annual Review of Vision Science, 7:747-772, 2021. [PubMed] [DOI]
222. Ratnapriya R, Jacobson SG, CIDECIYAN AV, English MA, Roman AJ, Sumaroka A, Sheplock R, Swaroop A. A novel ARL3 gene mutation associated with autosomal dominant retinal degeneration. Frontiers in Cell and Developmental Biology, 9:720782, 2021. [PubMed] [DOI]
221. Schonbach EM , Janeschitz-Kriegl L, Strauss RW , Cattaneo MEGV, Fujinami K, Birch DG, CIDECIYAN AV, Sunness JS, Weleber RW, Ip MS, Sadda SR, Scholl HPN. The progression of Stargardt disease using volumetric hill of vision analyses over 24 months: ProgStar report no.15. American Journal of Ophthalmology, 230:123-133, 2021. [PubMed] [DOI]
220. Jacobson SG, CIDECIYAN AV, Ho AC, Peshenko IV, Garafalo AV, Roman AJ, Sumaroka A, Wu V, Krishnan AK, Sheplock R, Boye SL, Dizhoor AM, Boye SE. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. iScience, 24, 102409, 2021. [PubMed] [DOI] [Clinicaltrials.gov] [Penn Press Release]
219. CIDECIYAN AV, Jacobson SG, Ho AC, Garafalo AV, Roman AJ, Sumaroka A, Krishnan AK, Swider M, Schwartz MR, Girach A. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report. Nature Medicine, 27:785-789, 2021. [PubMed] [PMC] [DOI] [Clinicaltrials.gov] [Penn Press Release]
218. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV. Leber congenital amaurosis due to GUCY2D mutations: Longitudinal analysis of retinal structure and visual function. International Journal of Molecular Sciences, 22(4), 2031, 2021. [PubMed] [DOI]
217. Aguirre GD, CIDECIYAN AV, Dufour VL, Garcia AR, Sudharsan R, Swider M, Nikonov R, Iwabe S, Boye SL, Hauswirth WW, Jacobson SG, Beltran WA. Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. Molecular Therapy, 29:2456-2468, 2021. [PubMed] [DOI] [Erratum]
216. Garafalo AV, Sheplock R, Sumaroka A, Roman AJ, CIDECIYAN AV, Jacobson SG. Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology. EBioMedicine, 63:103200, 2021. [PubMed] [DOI]
Papers Published in 2020
215. Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, CIDECIYAN AV, Khanna H. RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). Human Molecular Genetics, 29:3706-3716, 2020. [PubMed] [DOI]
214. Semenov EP, Sheplock R, Roman AJ, McGuigan DB, Swider M, CIDECIYAN AV, Jacobson SG. Reading performance in blue cone monochromacy: Defining an outcome measure for a clinical trial. Translational Vision Science & Techology, 9:13, 2020. [PubMed] [DOI]
213. CIDECIYAN AV, Jacobson SG, Roman AJ, Sumaroka A, Wu V, Charng J, Lisi B, Swider M, Aguirre GD, Beltran WA. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations. Scientific Reports, 10:12552, 2020. [PubMed] [DOI] [PDF] [Ocular Biomarkers Collection]
212. Sumaroka A, CIDECIYAN AV, Sheplock R, Wu V, Kohl S, Wissinger B, Jacobson SG. Foveal therapy in blue cone monochromacy: Predictions of visual potential from artificial intelligence. Frontiers in Neuroscience, 14:800, 2020. [PubMed] [DOI] [Retinal Degeneration and Therapy Approaches]
211. Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JB, Besirli CG, Birch DG, Branham KE, CIDECIYAN AV, et al. Advancing clinical trials for inherited retinal diseases: Recommendations from the second Monaciano symposium. Translational Vision Science & Technology, 9:2, 2020. [PubMed] [DOI]
210. Song C, Dufour VLL, CIDECIYAN AV, Ye GJ, Swider M, Newmark J, Timmers A, Robinson P, Knop DR, Chulay JD, Jacobson SG, Aguirre GD, Beltran WA, Shearman MS. Dose range finding studies with two RPGR transgenes in a canine model of X-linked retinitis pigmentosa treated with subretinal gene therapy. Human Gene Therapy, 31:743-755, 2020. [PubMed]
209. Schönbach EM, Strauss RW, Ahmed MI, Janes JL, CIDECIYAN AV, Birch DG, Sunness JS, Zrenner E, Ip MS, Kong X, Sadda SR, Scholl HPN, for the ProgStar study group. The effect of attention on fixation stability during dynamic fixation testing in Stargardt disease. American Journal of Ophthalmology, 217:305-316, 2020. [PubMed]
208. Schönbach EM, Strauss RW, Ibrahim MA, Janes JL, Birch DG, CIDECIYAN AV, Sunness JS, Muñoz B, Ip MS, Sadda SR, Scholl HPN, for the ProgStar study group. Faster sensitivity loss around dense scotomas than for overall macular sensitivity in Stargardt disease: ProgStar Report No. 14. American Journal of Ophthalmology, 216:219-225, 2020. [PubMed]
207. Krishnan AK, Jacobson SG, Roman AJ, Iyer BS, Garafalo AV, Héon E, CIDECIYAN AV. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Research, 168:53-63, 2020. [PubMed] [PMC PDF]
206. Dufour VLL, CIDECIYAN AV, Ye GJ, Song C, Timmers A, Habecker P, Pan W, Weinstein N, Swider M, Durham A, Ying GS, Robinson P, Jacobson SG, Knop DR, Chulay JD, Shearman MS, Aguirre GD, Beltran WA. Toxicity and efficacy evaluation of an AAV vector expressing codon-optimized RPGR delivered by subretinal injection in a canine model of X-linked retinitis pigmentosa. Human Gene Therapy, 31:253-267, 2020. [PubMed]
205. Garafalo AV, CIDECIYAN AV, Heon E, Sheplock R, Pearson A, Yub CW, Sumaroka A, Aguirre GD, Jacobson SG. Progress in inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future gene therapy initiatives. Progress in Retinal and Eye Research, 77:100827, 2020. [PubMed]
204. Gardiner KL, CIDECIYAN AV, Swider M, Dufour VL, Sumaroka A, Komaromy AM, Hauswirth WW, Iwabe S, Jacobson SG, Beltran WA, Aguirre GD. Long-term structural outcomes of late-stage RPE65 gene therapy. Molecular Therapy, 28:266-278, 2020. [PubMed] [Penn Press Release] [EurekAlert]
Papers Published in 2019
203. Sumaroka A, CIDECIYAN AV, Charng J, Wu V, Powers CA, Iyer BS, Lisi B, Swider M, Jacobson SG. Autosomal dominant retinitis pigmentosa due to class B Rhodopsin mutations: An objective outcome for future treatment trials. International Journal of Molecular Sciences, 20:E5344, 2019. [PubMed] [Special Issue — Retinal Degeneration: From Pathophysiology to Therapeutic Approaches]
202. Strauss RW, Kong X, Ho A, Jha A, West S, Ip M, Bernstein PS, Birch DG, CIDECIYAN AV, Michaelides M, Sahel JA, Sunness JS, Traboulsi EI, Zrenner E, Pitetta S, Jenkins D, Hariri AH, Sadda S, Scholl HPN. Progression of Stargardt disease as determined by fundus autofluorescence over a 12-month period. ProgStar Report No. 11. JAMA Ophthalmology, 137:1134-1145, 2019. [PubMed] [Commentary: Toward a treatment trial for Stargardt disease: Putting out the fire]
201. Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, CIDECIYAN AV. Treatment potential for macular cone vision in Leber congenital amaurosis due to CEP290 or NPHP5 mutations: Predictions from artificial intelligence. Investigative Ophthalmology & Visual Science, 60:2551-2562, 2019. [PubMed]
200. Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, CIDECIYAN AV, Jacobson SG. Short-wavelength sensitive cone (S-cone) testing as an outcome measure for NR2E3 clinical treatment trials. International Journal of Molecular Sciences, 20:E2497, 2019. [PubMed] [Special Issue — Retinal Degeneration: From Pathophysiology to Therapeutic Approaches]
199. CIDECIYAN AV, Jacobson SG. Leber congenital amaurosis (LCA): Potential for improvement of vision. Investigative Ophthalmology & Visual Science, 60:1680-1695, 2019. [PubMed] [Introduction to Proctor Lecture by Elise Heon and Gus Aguirre]
198. Peshenko IV, CIDECIYAN AV, Sumaroka A, Olshevskaya EV, Scholten A, Abbas S, Koch K-W, Jacobson SG, Dizhoor AM. A Gly86Arg mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration. Journal of Biological Chemistry, 94:3476-3488, 2019. [PubMed]
197. CIDECIYAN AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, de Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, De Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. Nature Medicine, 25:225-228, 2019. [PubMed] [Nat Med: News and Views] [Clinicaltrials.gov] [UPenn Press Release] [ProQR Press Release]
Papers Published in 2018
196. Sumaroka A, Garafalo AV, CIDECIYAN AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG. Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations. Investigative Ophthalmology & Visual Science 59:5762-5772, 2018. [PubMed]
195. Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, CIDECIYAN AV, Flannery JG, Beltran WA, Aguirre GD. Translational retinal research and therapies. Translational Vision Science & Technology 7(5):8, 2018. [PubMed]
194. CIDECIYAN AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG. Progression in X-linked retinitis pigmentosa due to ORF15-RPGR mutations: Assessment of localized vision changes over 2 years. Investigative Ophthalmology & Visual Science 59:4558-4566, 2018. [PubMed]
193. CIDECIYAN AV, Sudharsan R, Dufour VL, Massengill MT, Iwabe S, Swider M, Lisi B, Sumaroka A, Marinho LF, Appelbaum T, Rossmiller B, Hauswirth WW, Jacobson SG, Lewin AS, Aguirre GD, Beltran WA. Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector. Proceedings of the National Academy of Sciences USA, 115:E8547-E8556, 2018. [PubMed] [PDF] [UPenn Press Release] [NEI Press Release] [Philadelphia Inquirer]
192. Garafalo AV, Calzetti G, CIDECIYAN AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG. Cone vision changes in the enhanced S-cone syndrome caused by NR2E3 gene mutations. Investigative Ophthalmology & Visual Science 59:3209-3219, 2018. [PubMed]
191. Calzetti G, Levy RA, CIDECIYAN AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG. Efficacy outcome measures for clinical trials of USH2A caused by the common c.2299delG mutation. American Journal of Ophthalmology, 193:114–129, 2018. [PubMed]
190. Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, CIDECIYAN AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. British Journal of Ophthalmology, 103:390-397, 2018. [PubMed]
189. Kong X, Fujinami K, Strauss RW, Munoz B, West SK, CIDECIYAN AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group. Visual acuity change over 24 months and its association with foveal phenotype and genotype in individuals with Stargardt disease: ProgStar Study Report No. 10. JAMA Ophthalmology, 136:920-928, 2018 . [PubMed]
188. Stunkel ML, Brodie SE, CIDECIYAN AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American Journal of Ophthalmology, 190:58–68, 2018. [PubMed]
187. Guziewicz KE, CIDECIYAN AV, Beltran WA, Komaromy AM, Dufour VL, Swider M, Iwabe S, Sumaroka A, Kendrick BT, Ruthel G, Chiodo VA, Heon E, Hauswirth WW, Jacobson SG, Aguirre GD. BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proceedings of the National Academy of Sciences USA, 115:E2839-E2848, 2018. [PubMed] [PDF] [UPenn Press Release] [PNAS Podcast]
Papers Published in 2017
186. Strauss RW, Munoz B, Ho A, Jha A, Michaelides M, CIDECIYAN AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S-V, West S, Scholl HPN. Progression of Stargardt disease as determined by fundus autofluorescence in the retrospective progression of Stargardt disease study (ProgStar Report No. 9). JAMA Ophthalmology, 135, 1232-1241, 2017. [PubMed]
185. Charng J, Tan R, Luu CD, Sadigh S, Stambolian D, Guymer RH, Jacobson SG, CIDECIYAN AV. Imaging lenticular autofluorescence in older subjects. Investigative Ophthalmology & Visual Science 58:4940-4947, 2017. [PubMed]
184. Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, CIDECIYAN AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C. Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. Scientific Reports 7, 12147, 2017. [PubMed]
183. Sears AE, Bernstein PS, CIDECIYAN AV, Hoyng C, Issa PC, Palczewski K, Rosenfeld PJ, Sadda S-V, Schraermeyer U, Sparrow JR, Washington I, Scholl HPN. Towards treatment of Stargardt disease: Workshop organized and sponsored by the Foundation Fighting Blindness. Translational Vision Science & Technology 6:6, 2017. [PubMed]
182. McGuigan DB, Heon E, CIDECIYAN AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes 8, E178, 2017. [PubMed]
181. Shimada H, Lu Q, Insinna-Kettenhofen C, Nagashima K, English MA, Semler EM, Mahgerefteh J, CIDECIYAN AV, Li T, Brooks BP, Gunay-Aygun M, Jacobson SG, Cogliati T, Westlake CJ, Swaroop A. In vitro modeling using ciliopathy-patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations. Cell Reports 20, 384-396, 2017. [PubMed]
180. Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB, Sheplock R, Kosyk MS, Swider M, CIDECIYAN AV. Pupillary light reflexes in severe photoreceptor blindness isolate the melanopic component of intrinsically photosensitive retinal ganglion cells. Investigative Ophthalmology & Visual Science 58:3215-3224, 2017. [PubMed]
179. Schönbach EM, Wolfson Y, Strauss RW, Ibrahim MA, Kong X, Muñoz B, Birch DG, CIDECIYAN AV, Hahn G-A, Nittala M, Sunness JS, Sadda SR, West SK, Scholl HPN. Macular sensitivity measured with microperimetry in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study. Report No. 7. JAMA Ophthalmology 135:696-703, 2017. [PubMed]
178. Kong X, Strauss RW, CIDECIYAN AV, Michaelides M, Sahel JA, Munoz B, Ahmed M, Ervin AM, West SK, Cheetham JK, Scholl HPN. Visual acuity change over 12 months in the prospective progression of atrophy secondary to Stargardt disease (ProgStar) study: ProgStar Report No. 6. Ophthalmology, 124:1640-1651, 2017. [PubMed]
177. Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, MD, CIDECIYAN AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN. Incidence of atrophic lesions in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study. Report No. 5. JAMA Ophthalmology 135:687-695, 2017. [PubMed]
176. Beltran WA, CIDECIYAN AV, Boye SE, Ye G-J, Iwabe S, Dufour VL, Marinho LF, Swider M, Kosyk MS, Sha J, Boye SL, Peterson JJ, Witherspoon CD, Alexander JJ, Ying G-S, Shearman MS, Chulay JD, Hauswirth WW, Gamlin PD, Jacobson SG, Aguirre GD. Optimization of retinal gene therapy for X-linked retinitis pigmentosa due to RPGR mutations. Molecular Therapy, 25:1866-1880, 2017. [PubMed]
175. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choi W, Sheplock R, Swider M, Kosyk MS, Schwartz SB, Stone EM, Fishman GA. Outcome measures for clinical trials of Leber congenital amaurosis caused by the intronic mutation in the CEP290 gene. Investigative Ophthalmology & Visual Science 58:2609-2622, 2017. [PubMed]
174. Kong X, West SK, Strauss RW, Munoz B, CIDECIYAN AV, Michaelides M, Ho A, Ahmed M, Schönbach EM, Cheetham JK, Ervin AM, Scholl HPN. Progression of visual acuity and fundus autofluorescence in recent-onset Stargardt disease: ProgStar Study Report No. 4. Ophthalmology Retina, 1:514-523, 2017. [PubMed]
173. Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang X-F, Qu J, Lu F, CIDECIYAN AV, Li T, Jin Z-B, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. Human Molecular Genetics 26: 2218-2230, 2017. [PubMed]
172. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining outcomes for clinical trials of Leber congenital amaurosis caused by GUCY2D mutations. American Journal of Ophthalmology 77:44–57, 2017. [PubMed]
171. Aguirre GK, Butt OH, Datta R, Roman AJ, Sumaroka A, Schwartz SB, CIDECIYAN AV, Jacobson SG. Postretinal structure and function in severe congenital photoreceptor blindness caused by mutations in the GUCY2D gene. Investigative Ophthalmology & Visual Science 58:959-973, 2017. [PubMed]
170. Schönbach EM, Ibrahim MA, Strauss RW, Birch DG, CIDECIYAN AV, Hahn GA, Ho A, Kong X, Nasser F, Sunness JS, Zrenner E, Sadda SR, West SK, Scholl HPN. Fixation location and stability using the MP-1 microperimeter in Stargardt disease: ProgStar Report No. 3. Ophthalmology Retina 1:68-76, 2017. [PubMed]
Papers Published in 2016
169. Aguirre GK, Datta R, Benson NC, Prasad S, Jacobson SG, CIDECIYAN AV, Bridge H, Watkins KE, Butt OH, Dain AS, Brandes L, Gennatas ED. Patterns of individual variation in visual pathway structure and function in the sighted and blind. PLoS One 11(11): e0164677, 2016. [PubMed]
168. Charng J, CIDECIYAN AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Human Molecular Genetics 25:5444–5459, 2016. [PubMed]
167. Jacobson SG, McGuigan DB, Sumaroka A, Roman AJ, Gruzensky ML, Sheplock R, Palma J, Schwartz SB, Aleman TS, CIDECIYAN AV. Complexity of the class B phenotype in autosomal dominant retinitis pigmentosa due to rhodopsin mutations. Investigative Ophthalmology & Visual Science 57:4847-4858, 2016. [PubMed]
166. Downs LM, Scott EM, CIDECIYAN AV, Iwabe S, Dufour V, Gardiner KL, Genini S, Marinho LF, Sumaroka A, Kosyk MS, Swider M, Aguirre GK, Jacobson SG, Beltran WA, Aguirre GD. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. Human Molecular Genetics 25:4211-4226, 2016. [PubMed]
165. da Cruz L, Dorn JD, Humayun MS, Dagnelie G, Handa J, Barale P-O, Sahel J-A, Stanga PE, Hafezi F, Safran AB, Salzmann J, Santos A, Birch D, Spencer R, CIDECIYAN AV, de Juan E, Duncan JL, Eliott D, Fawzi A, de Koo LCO, Ho AC, Brown G, Haller J, Regillo C, Del Priore LV, Arditi A, Greenberg RJ, for the Argus II Study Group. Five-year safety and performance results from the Argus II retinal prosthesis system clinical trial. Ophthalmology 123:2248-2254, 2016. [PubMed]
164. Heon E, Alabduljalil T, Iii DB, CIDECIYAN AV, Li S, Chen S, Jacobson SG. Visual function and central retinal structure in Choroideremia. Investigative Ophthalmology & Visual Science 57:OCT377-87, 2016. [PubMed]
163. Sumaroka A, Matsui R, CIDECIYAN AV, McGuigan DB 3rd, Sheplock R, Schwartz SB, Jacobson SG. Outer retinal changes including the ellipsoid zone band in Usher syndrome 1B due to MYO7A mutations. Investigative Ophthalmology & Visual Science 57:OCT253-61, 2016. [PubMed]
162. Kong X, Strauss RW, Michaelides M, CIDECIYAN AV, Sahel JA, Muñoz B, West S, Scholl HP; ProgStar Study Group. Visual acuity loss and associated risk factors in the retrospective progression of Stargardt disease study (ProgStar Report No. 2). Ophthalmology 123:1887-97, 2016. [PubMed]
161. CIDECIYAN AV, Roman AJ, Jacobson SG, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S. Developing an outcome measure with high luminance for optogenetics treatment of severe retinal degenerations and for gene therapy of cone diseases. Investigative Ophthalmology & Visual Science 57:3211-3221, 2016. [PubMed]
160. McGuigan DB 3rd, Roman AJ, CIDECIYAN AV, Matsui R, Gruzensky ML, Sheplock R, Jacobson SG. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa: Filling a need to accommodate multicenter clinical trials. Investigative Ophthalmology & Visual Science 57:3118-3128, 2016. [PubMed]
159. Strauss RW, Muñoz B, Jha A, Ho A, CIDECIYAN AV, Kasilian ML, Wolfson Y, Sadda S, West S, Scholl HPN, Michaelides M. Comparison of short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt macular dystrophy. American Journal of Ophthalmology 168:269-278, 2016. [PubMed]
158. Jacobson SG, Matsui R, Sumaroka A, CIDECIYAN AV. Retinal structure measurements as inclusion criteria for stem cell-based therapies of retinal degenerations. Investigative Ophthalmology & Visual Science 57:ORSFn1-ORSFn9, 2016. [PubMed]
157. Matsui R, McGuigan III DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, CIDECIYAN AV, Jacobson SG. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. Ophthalmic Genetics 37:333-338, 2016. [PubMed]
156. Strauss RW, Ho A, Muñoz B, CIDECIYAN AV, Sahel J-A, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin A-M, West S, Scholl HPN. The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: Design and baseline characteristics: ProgStar Report No. 1. Ophthalmology 123:817-828, 2016. [PubMed]
155. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, Schwartz SB. Leber congenital amaurosis: Genotypes and retinal structure phenotypes. Advances in Experimental Medicine and Biology 854:169-75, 2016. [PubMed]
Papers Published in 2015
154. Beltran WA, CIDECIYAN AV, Iwabea S, Swider M, Kosyk MS, McDaida K, Martynyuka I, Ying G-S, Shaffer J, Deng W-T, Boye SL, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD. Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease. Proceedings of the National Academy of Sciences USA 112:E5844-53, 2015. [PubMed] [NEI Press Release] [Penn Press Release] [PDF]
153. Matsui R, CIDECIYAN AV, Schwartz SB, Sumaroka A, Roman AJ, Swider M, Huang WC, Sheplock R, Jacobson SG. Molecular heterogeneity within the clinical diagnosis of pericentral retinal degeneration. Investigative Ophthalmology and Visual Science 56:6007-6018, 2015. [PubMed]
152. CIDECIYAN AV, Swider M, Schwartz SB, Stone EM, Jacobson SG. Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front. Investigative Ophthalmology and Visual Science 56:5946-5955, 2015. [PubMed]
151. Roman AJ, CIDECIYAN AV, Matsui R, Sheplock R, Schwartz SB, Jacobson SG. Outcome measure for the treatment of cone photoreceptor diseases: Orientation to a scene with cone-only contrast. BMC Ophthalmology 15:98, 2015. [PubMed] [PDF]
150. Ho AC, Humayun MS, Dorn JD, et al., CIDECIYAN AV, et al., Arditi A, Geruschat DR, Greenberg RJ. Long-term results from an epiretinal prosthesis to restore sight to the blind. Ophthalmology 122:1547-54, 2015. [PubMed]
149. CIDECIYAN AV, Swider M, Jacobson SG. Autofluorescence imaging with near-infrared excitation: Normalization by reflectance to reduce signal from choroidal fluorophores. Investigative Ophthalmology and Visual Science 56:3393–3406, 2015. [PubMed]
148. Jacobson SG, CIDECIYAN AV, Roman AJ, Sumaroka A, Schwartz SB, Heon E, Hauswirth WW. Improvement and decline in vision with gene therapy in childhood blindness. New England Journal of Medicine 372:1920-1926, 2015. [PubMed] [Editorial] [NEI Press Release] [Penn Press Release] [Science Now]
147. Luo X, CIDECIYAN AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue cone monochromacy: Visual function and efficacy outcome measures for clinical trials. PLoS One 10(4): e0125700, 2015. [PubMed] [PDF]
146. Jacobson SG, CIDECIYAN AV, Aguirre GD, Roman AJ, Sumaroka A, Hauswirth WW, Palczewski K. Improvement in vision: a new goal for treatment of hereditary retinal degenerations. Expert Opinion on Orphan Drugs 3:563-575, 2015. [PubMed]
145. Zhang N, Tsybovsky Y, Kolesnikov AV, Rozanowska M, Swider M, Schwartz SB, Stone EM, Palczewska G, Maeda A, Kefalov VJ, Jacobson SG, CIDECIYAN AV, Palczewski K. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Human Molecular Genetics 24:3220-3237, 2015. [PubMed]
144. Zelinger L, CIDECIYAN AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. Genetics and disease expression in the CNGA3 form of achromatopsia: Steps on the path to gene therapy. Ophthalmology 122:997-1007, 2015.[PubMed]
143. CIDECIYAN AV, Aguirre GK, Jacobson SG, Butt OH, Schwartz SB, Swider M, Roman AJ, Sadigh S, Hauswirth WW. Pseudo-fovea formation after gene therapy for RPE65-LCA. Investigative Ophthalmology & Visual Science 56:526-537, 2015. [PubMed]
142. Beltran WA, CIDECIYAN AV, Lewin AS, Hauswirth WW, Jacobson SG, Aguirre GD. Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. Cold Spring Harbor Perspectives in Medicine 5:a017392, 2015. [PubMed]
141. Sadigh S, Luo X, CIDECIYAN AV, Sumaroka A, Boxley SL, Hall LM, Sheplock R, Stambolian DS, Jacobson SG. Drusen and photoreceptor abnormalities in african-americans with intermediate non-neovascular age-related macular degeneration. Current Eye Research 40:398-406, 2015. [PubMed]
Papers Published in 2014
140. Jacobson SG, CIDECIYAN AV, Huang WC, Sumaroka A, Roman AJ, Schwartz SB, Luo X, Sheplock R, Dauber JM, Swider M, Stone EM. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative Ophthalmology & Visual Science 55:5354-64, 2014. [PubMed]
139. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wright AF. Late-onset retinal degeneration caused by C1QTNF5 mutation: Sub-retinal pigment epithelium deposits and visual consequences. JAMA Ophthalmology 132:1252-1255, 2014. [PubMed]
138. Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, CIDECIYAN AV, Hauswirth WW, Jacobson SG. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: Determining the timing and expectation of therapy. PLoS One 9:e92928, 2014. [PubMed]
137. Beltran WA, CIDECIYAN AV, Guziewicz KE, Iwabe S, Swider M, Scott EM, Savina SV, Ruthel G, Stefano F, Zhang L, Zorger R, Sumaroka A, Jacobson SG, Aguirre GD. Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations. PLoS One 9:e90390, 2014. [PubMed] [Penn News] [PDF]
136. Huang WC, CIDECIYAN AV, Roman AJ, Sumaroka A, Sheplock R, Schwartz SB, Stone EM, Jacobson SG. Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. Investigative Ophthalmology & Visual Science 55:1810–1822, 2014. [PubMed]
Papers Published in 2013
135. CIDECIYAN AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Human Gene Therapy 24:993–1006, 2013. [PubMed]
134. Braun T, Mullins R, Wagner A, Andorf J, Bakall B, DeLuca A, Fishman GA, Lam B, Weleber R, CIDECIYAN AV, Jacobson SG, Sheffield V, Tucker B, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics, 22:5136-5145, 2013. [PubMed]
133. CIDECIYAN AV, Jacobson SG, Beltran WA, Hauswirth WW, Aguirre GD. Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration. Proceedings of the National Academy of Sciences USA 110:E1706, 2013. [PubMed]
132. Jacobson SG, Sumaroka A, Luo X, CIDECIYAN AV. Retinal optogenetic therapies: clinical criteria for candidacy. Clinical Genetics 84:175–182, 2013. [PubMed]
131. Sadigh S, CIDECIYAN AV, Sumaroka A, Huang WC, Luo X, Swider M, Steinberg JD, Stambolian D, Jacobson SG. Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration. Investigative Ophthalmology & Visual Science 54:1603-1612, 2013. [PubMed]
130. Roman AJ, CIDECIYAN AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science 54:1378-1383, 2013. [PubMed]
129. CIDECIYAN AV, Jacobson SG, Beltran WA, Sumaroka A, Swider M, Iwabe S, Roman AJ, Olivares MB, Schwartz SB, Komaromy AM, Hauswirth WW, Aguirre GD.Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proceedings of the National Academy of Sciences USA 110:E517-25, 2013. [PubMed] [NEI News Brief] [Penn News] [Commentary] [WOC Lecture] [PDF]
128. Jacobson SG, CIDECIYAN AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau K-W, Heon E, Stone EM,Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Human Molecular Genetics, 22:168-183, 2013. [PubMed]
Papers Published in 2012
127. Huang WC, Wright AF, Roman AJ, CIDECIYAN AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Investigative Ophthalmology & Visual Science 53:5594–5608, 2012. [PubMed]
126. Beltran WA, CIDECIYAN AV, Lewin AS, Iwabe1 S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng W-T, Swider M, Alemán TS, Boye SL, Genini S,Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitispigmentosa. Proceedings of the National Academy of Sciences USA 109:2132-2137, 2012. [PubMed] [Penn News] [PDF]
125. Humayun MS, Dorn JD, da Cruz L, Dagnelie G, Sahel J-A, Stanga PE, CIDECIYAN AV, Duncan JL, Eliott D, Filley E, Ho AC, Santos A, Safran AB, Arditi A, Del PrioreLV, Greenberg RJ for the Argus II Study Group. Interim results from the international trial of Second Sight’s visual prosthesis. Ophthalmology 119:779-788, 2012.[PubMed]
124. CIDECIYAN AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, Steinberg JD, Stone EM, Jacobson SG. Macular function in macular degenerations: Repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Investigative Ophthalmology & Visual Science 53:841–852, 2012. [PubMed]
123. Dinculescu A, Estreicher J, Zenteno JC, Aleman TS, Schwartz SB, Huang WC, Roman AJ, Sumaroka A, Li Q, Deng W-T, Min S-H, Chiodo VA, Neeley A, Liu X, Shu X, Matias-Florentino M, Buentello-Volante B, Boye SL, CIDECIYAN AV, Hauswirth WW, Jacobson SG. Gene therapy for retinitis pigmentosa caused by MFRP (Membrane-type Frizzled Related Protein) mutations: Human phenotype and preliminary proof-of-concept. Human Gene Therapy 23:367-376, 2012. [PubMed]
122. Jacobson SG, CIDECIYAN AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang J-J, ErgerKE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in fifteen children and adults followed up to three years. Archives of Ophthalmology 130:9-24, 2012.[PubMed]
Papers Published in 2011
121. Stone EM, Luo X, Heon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, CIDECIYAN AV, Jacobson SG. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Investigative Ophthalmology & Visual Science, 52:9665–9673, 2011. [PubMed]
120. Jacobson SG, CIDECIYAN AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Investigative Ophthalmology & Visual Science, 52:7924-36, 2011. [PubMed]
119. Aleman TS, CIDECIYAN AV, Aguirre GK, Huang WC, Mullins CL, Roman AJ, Sumaroka A, Olivares MB, Tsai FF, Schwartz SB, Vandenberghe LH, Limberis MP, Stone EM, Bell P, Wilson JM, Jacobson SG. Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Investigative Ophthalmology & Visual Science, 52:6898-6910, 2011. [PubMed]
118. Mustafi D, Kevany BM, Genoud C, Okano K, CIDECIYAN AV, Sumaroka A, Roman AJ, Jacobson SG, Engel A, Adams MD, Palczewski K. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB Journal, 25:3157-3176, 2011. [PubMed]
117. Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryotzkin A, Bandah-Rozenfeld D, Ben Yosef T, Merin S, Schwartz SB, CIDECIYAN AV, Jacobson SG, Sharon D. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. American Journal of Human Genetics, 88:207-215, 2011. [PubMed]
116. CIDECIYAN AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone AM, Jacobson SG, Swaroop A. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Human Molecular Genetics, 20:1411-1423, 2011. [PubMed]
115. Sakami S, Maeda T, Bereta G, Okano K, Golczak M, Sumaroka A, Roman AJ, CIDECIYAN AV, Jacobson SG, Palczewski K. Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. Journal of Biological Chemistry, 286:10551-10567, 2011. [PubMed]
114. Stone EM, CIDECIYAN AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Variations in NPHP5 in patients with nonsyndromic Leber congenital amaurosis (LCA) and Senior-Loken syndrome. Archives of Ophthalmology, 129:81-87, 2011. [PubMed]
113. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Investigative Ophthalmology & Visual Science, 52:70-79, 2011. [PubMed]
Papers Published in 2010
112. Jacobson SG, CIDECIYAN AV. Treatment possibilities for retinitis pigmentosa. New England Journal of Medicine, 363:1669-1671, 2010. [PubMed]
111. Banin E, Bandah-Rosenfeld D, Obolensky A, CIDECIYAN AV, Aleman TS, Marks-Ohana D, Sela M, Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Sharon D. Molecular anthropology meets genetic medicine to treat blindness in the north african Jewish population: Human gene therapy initiated in Israel. Human Gene Therapy, 21:1749-1757, 2010. [PubMed]
110. Caruso RC, Aleman TS, CIDECIYAN AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG. Retinal disease in Rpe65-deficient mice: comparison to human Leber congenital amaurosis due to RPE65 mutations. Investigative Ophthalmology & Visual Science, 51:5304-5313, 2010. [PubMed]
109. CIDECIYAN AV. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Progress in Retinal and Eye Research, 29:398-427, 2010.[PubMed]
108. Jacobson SG, Roman AJ, Aleman TS, Sumaroka A, Herrera W, Windsor EAM, Atkinson LA, Schwartz SB, Steinberg JD, CIDECIYAN AV. Normal central retinal function and structure preserved in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 51:1079 –1085, 2010. [PubMed]
Papers Published in 2009
107. Aleman TS, Soumittra N, CIDECIYAN AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EAM, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF,Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Investigative Ophthalmology & Visual Science, 50:5944-5954, 2009. [PubMed]
106. CIDECIYAN AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EAM, Conlon TJ, Sumaroka A, Pang J, Roman AJ, Byrne BJ, Jacobson SG. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Human Gene Therapy, 20:999-1004, 2009.[PubMed] [Reprint]
105. Gibbs D, CIDECIYAN AV, Jacobson SG, Williams DS. Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Investigative Ophthalmology & Visual Science, 50:4386-4393, 2009. [PubMed]
104. CIDECIYAN AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EAM, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG. Vision 1 year after gene therapy for Leber’s congenital amaurosis. New England Journal of Medicine, 361:725-727, 2009. [PubMed] [Reprint] [Free Text in PubMed Central]
103. Jacobson SG, Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Windsor EAM, Swider M, Herrera W, Stone EM. Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization. Molecular Vision, 15:1098-1106, 2009. [PubMed] [PDF]
102. Maeda T, CIDECIYAN AV, Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K. Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. Human Molecular Genetics, 18:2277-2287, 2009. [PubMed]
101. Jacobson SG, Aleman TS, CIDECIYAN AV, Roman AJ, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science, 50:2368-2375, 2009. [PubMed]
100. Jacobson SG, Aleman TS, Sumaroka A, CIDECIYAN AV, Roman AJ, Windsor EAM, Schwartz SB, Rehm HL, Kimberling WJ. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Investigative Ophthalmology & Visual Science, 50:1886-1894, 2009. [PubMed]
99. CIDECIYAN AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EAM, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4 disease progression and a proposed strategy for gene therapy. Human Molecular Genetics, 18:931-941, 2009. [PubMed] [Reprint] [Free Text in PubMed Central]
Papers Published in 2008
98. CIDECIYAN AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang J-j, Sumaroka A, Windsor EAM, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW. Human gene therapy for RPE65-isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National Academy of Sciences USA, 105: 15112-15117, 2008. [PubMed] [PDF]
97. Hauswirth WW, Aleman TS, Kaushal S, CIDECIYAN AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Human Gene Therapy, 19:979-990, 2008. [PubMed]
96. Aleman TS, Lam BL, CIDECIYAN AV, Sumaroka A, Windsor EAM, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye, 23:230-233, 2008. [PubMed]
95. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Windsor EAM, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science, 49:4573-4577, 2008. [PubMed]
94. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human Molecular Genetics, 17:2405-2415, 2008. [PubMed]
93. Aleman TS, CIDECIYAN AV, Sumaroka A, Windsor EAM, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG. Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Investigative Ophthalmology & Visual Science, 49:1580-1590, 2008. [PubMed]
92. Kitiratschky VBD, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, CIDECIYAN AV, Schaich S, Kohl S, Wissinger B. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. European Journal of Human Genetics, 16:812-819, 2008. [PubMed]
91. Herrera W, Aleman TS, CIDECIYAN AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EAM, Schwartz SB, Stone EM, Liu X-Z, Kimberling WJ, Jacobson SG. Retinal disease in Usher syndrome III caused by mutations in the Clarin-1 gene. Investigative Ophthalmology & Visual Science, 49:2651-2660, 2008.[PubMed]
Papers Published in 2007
90. Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EAM, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Investigative Ophthalmology & Visual Science, 48:4759-4765, 2007. [PubMed]
89. Roman AJ, Boye SL, Aleman TS, Pang J-J, McDowell JH, Boye SE, CIDECIYAN AV, Jacobson SG, Hauswirth WW. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Molecular Vision, 13:1701-1710, 2007. [PubMed] [PDF]
88. Jacobson SG, Aleman TS, CIDECIYAN AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Windsor EAM, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proceedings of the National Academy of Sciences USA, 104:15123-15128, 2007. [PubMed] [PDF]
87. Roman AJ, CIDECIYAN AV, Aleman TS, Jacobson SG. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiological Measurement, 28:N51-56, 2007. [PubMed]
86. Aguirre GK, Komáromy AM, CIDECIYAN AV, Brainard DH, Alemán TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Medicine, 4:e230, 2007. [PubMed] [PDF]
85. CIDECIYAN AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EAM, He S, Chang B, Stone EM, Swaroop A. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Human Mutation, 28:1074-1083, 2007. [PubMed]
84. Jacobson SG, Sumaroka A, Aleman TS, CIDECIYAN AV, Danciger M, Farber DB. Evidence for retinal remodeling in retinitis pigmentosa caused by PDE6B mutation. British Journal of Ophthalmology 91:699-701, 2007. [PubMed]
83. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM. Leber congenital amaurosis caused by RPGRIP1 mutation shows treatment potential. Ophthalmology 114:895-898, 2007. [PubMed]
82. CIDECIYAN AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG. Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. Journal of the Optical Society of America A 24:1457-1467, 2007. [PubMed]
81. Aleman TS, CIDECIYAN AV, Windsor EAM, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG. Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. Investigative Ophthalmology & Visual Science 48:1319-1329, 2007. [PubMed]
80. Jacobson SG, CIDECIYAN AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EAM, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, do not share disease expression. Investigative Ophthalmology & Visual Science 48:332-338, 2007. [PubMed]
Papers Published in 2006
79. Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, CIDECIYAN AV, Jacobson SG, Wright AF. Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. Advances in Experimental Medicine and Biology 572:41-8, 2006. [PubMed]
78. Azari AA, Aleman TS, CIDECIYAN AV, Schwartz SB, Windsor EAM, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal disease expression in Bardet-Biedl Syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science 47: 5004-5010, 2006. [PubMed]
77. Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, CIDECIYAN AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Human Gene Therapy 17:845-58, 2006. [PubMed]
76. Cheng H, Aleman TS, CIDECIYAN AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Human Molecular Genetics 15:2588-602, 2006. [PubMed]
75. Jacobson SG, CIDECIYAN AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EAM, Roman AJ, Stone EM, MacDonald IM. Remodeling of the human retina in choroideremia - Rab Escort Protein 1 (REP-1) mutations. Investigative Ophthalmology & Visual Science 47:4113-4120, 2006. [PubMed]
74. Williams ML, Coleman JE, Haire SE, Aleman TS, CIDECIYAN AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL. Lentiviral expression of retinal Guanylate Cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Medicine 3:e201, 2006. [PubMed]
73. Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, CIDECIYAN AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EAM, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Molecular Therapy 13:1074-1084, 2006. [PubMed]
Papers Published in 2005
72. CIDECIYAN AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Investigative Ophthalmology & Visual Science 46:4739–4746, 2005. [PubMed]
71. Acland GM, Aguirre GD, Bennett J, Aleman TS, CIDECIYAN AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Molecular Therapy 12:1072-1082, 2005. [PubMed]
70. Fishman GA, Jacobson SG, Alexander KR, CIDECIYAN AV, Birch DG, Weleber RG, Hood DC. Outcome measures and their application in clinical trials for retinal degenerative diseases: Outline, review, and perspective. Retina 25:772-777, 2005. [PubMed]
69. Jacobson SG, Aleman TS, CIDECIYAN AV, Sumaroka A, Schwartz SB, Windsor EAM, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes due to RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences USA 102:6177-6182, 2005. [PubMed] [PDF]
68. Lebherz C, Maguire AM, Auricchio A, Tang W, Aleman TS, Wei Z, Grant R, CIDECIYAN AV, Jacobson SG, Wilson JM, Bennett J. Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor. Diabetes 54:1141-1149, 2005. [PubMed]
67. CIDECIYAN AV, Jacobson SG, Aleman TS, Gu D, Pearce-Kelling SE, Sumaroka A, Acland GM, Aguirre GD. In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 102:5233-5238, 2005. [PubMed] [PDF]
66. Schwartz SB, Aleman TS, CIDECIYAN AV, Windsor EAM, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu X-Z, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative Ophthalmology & Visual Science 46:734–743, 2005. [PubMed]
65. Roman AJ, Schwartz SB, Aleman TS, CIDECIYAN AV, Chico JD, Windsor EAM, Gardner LM, Ying G-Y, Smilko EE, Maguire MG, Jacobson SG. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Experimental Eye Research 80: 259–272, 2005. [PubMed]
Papers Published in 2004
64. Wright AF, Jacobson SG, CIDECIYAN AV, Roman AJ, Shu X, Vlachantoni D, McInnes RR, Riemersma RA. Life span and mitochondrial control of neurodegeneration. Nature Genetics 36:1153-1158, 2004. [PubMed]
63. Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, CIDECIYAN AV, Stone EM, Jacobson SG, and Swaroop A. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Human Mutation 24:439, 2004. [PubMed]
62. Jacobson SG, Sumaroka A, Aleman TS, CIDECIYAN AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics 13:1893-1902, 2004. [PubMed]
61. Aleman TS, Jacobson SG, Chico JD, Scott ML, Cheung AY, Windsor EAM, Furushima M, Redmond TM, Bennett J, Palczewski K, CIDECIYAN AV. Impairment of the transient pupillary light reflex in Rpe65-/- mice and humans with Leber congenital amaurosis. Investigative Ophthalmology & Visual Science 45:1259-1271, 2004. [PubMed]
60. CIDECIYAN AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence. Human Molecular Genetics, 13:525-534, 2004. [PubMed]
59. Dejneka NS, Surace EM, Aleman TS, CIDECIYAN AV, Lyubarsky A, Savchenko A, Redmond TM, Tang W, Wei Z, Rex TS, Glover E, Maguire AM, Pugh EN Jr, Jacobson SG, Bennett J. In utero gene therapy rescues vision in a murine model of congenital blindness. Molecular Therapy, 9:182-188, 2004. [PubMed]
Papers Published in 2003
58. Hayward C, Shu X, CIDECIYAN AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration – a genetic model for age-related macular degeneration. Human Molecular Genetics 12:2657-2667, 2003. [PubMed]
57. Schwartz SB, Aleman TS, CIDECIYAN AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation, Arg677ter, in the RP1 gene associated with retinitis pigmentosa. Investigative Ophthalmology & Visual Science 44:3593-3597, 2003. [PubMed]
56. Jacobson SG, CIDECIYAN AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics, 12:1073–1078, 2003. [PubMed]
55. Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, CIDECIYAN AV, Sheffield VC, Stone EM, Jacobson SG. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 110:549-558, 2003. [PubMed]
54. CIDECIYAN AV, Jacobson SG, Gupta N, Osawa S, Locke KG, Weiss ER, Wright AF, Birch DG, Milam AH. Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. Investigative Ophthalmology & Visual Science 44:1268-1274, 2003. [PubMed]
53. Pianta MJ, Aleman TS, CIDECIYAN AV, Sunness JS, Li Y, Campochiaro BA, Campochiaro PA, Zack DJ, Stone EM, Jacobson SG. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Experimental Eye Research 76:203-211, 2003. [PubMed]
Papers Published in 2002
52. Aleman TS, CIDECIYAN AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Experimental Eye Research 74:737-745, 2002. [PubMed]
51. Scilley K, Jackson GR, CIDECIYAN AV, Maguire MG, Jacobson SG, Owsley C. Early age-related maculopathy and self-reported visual difficulty in daily life. Ophthalmology 109:1235-1242, 2002. [PubMed]
50. Duncan JL, Aleman TS, Gardner LM, De Castro E, Marks DA, Emmons JM, Bieber ML, Steinberg JD, Bennett J, Stone EM, Macdonald IM, CIDECIYAN AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in choroideremia. Experimental Eye Research 74:371-381, 2002. [PubMed]
49. Kijas JW, CIDECIYAN AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 99:6328-6333, 2002. [PubMed] [PDF]
48. Jacobson SG, CIDECIYAN AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Archives of Ophthalmology 120:376-379, 2002. [PubMed]
47. Milam AH, Rose L, CIDECIYAN AV, Barakat MR, Tang W-X, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proceedings of the National Academy of Sciences USA 99:473-478, 2002. [PubMed] [PDF]
Papers Published in 2001
46. Aleman TS, LaVail MM, Montemayor R, Ying G-S., Maguire MM, Laties AM, Jacobson SG, CIDECIYAN AV. Augmented rod bipolar cell function in partial photoreceptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats. Vision Research 41:2779-2797, 2001. [PubMed]
45. Jacobson SG, CIDECIYAN AV, Wright E, Wright AF. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Investigative Ophthalmology & Visual Science 42:1882-1890, 2001. [PubMed]
44. Aleman TS, Duncan JL, Bieber ML, de Castro E, Marks DA, Gardner LM, Steinberg JD, CIDECIYAN AV, Maguire MG, Jacobson SG. Macular pigment and lutein supplementation in retinitis pigmentosa and usher syndrome. Investigative Ophthalmology & Visual Science 42:1873-1881, 2001. [PubMed]
43. Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, CIDECIYAN AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nature Genetics 28:92-95, 2001. [PubMed]
42. Liang F-Q, Aleman TS, Yang Z, CIDECIYAN AV, Jacobson SG, Bennett J. Melatonin delays photoreceptor degeneration in the rds/rds mouse. Neuroreport 12:1011-1014, 2001. [PubMed]
Papers Published in 2000
41. Poehner WJ, Fossarello M, Rapoport AL, Aleman TS, CIDECIYAN AV, Jacobson SG, Wright AF, Danciger M, Farber DB. A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy. Molecular Vision 6:192-198, 2000. [PubMed] [PDF]
40. Milam AH, Curcio CA, CIDECIYAN AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG. Dominant late-onset retinal degeneration with regional variation of sub-RPE deposits, retinal function and photoreceptor degeneration. Ophthalmology 107:2256-2266, 2000. [PubMed]
39. CIDECIYAN AV, Haeseleer F, Fariss RN, Aleman TS, Jang G-F, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Visual Neuroscience 17:667-678, 2000. [PubMed]
38. Miano MG, Jacobson SG, Carothers A, Hansen I, Teague P, Lovell J, CIDECIYAN AV, Stone EM, Sheffield VC, Wright AF. Pitfalls in homozygosity mapping. American Journal of Human Genetics 67:1348-1351, 2000. [PubMed]
37. van Hooser JP, Aleman TS, He Y-G, CIDECIYAN AV, Kuska V, Pittler SJ, Stone EM, Jacobson SG, Palczewski K. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proceedings of the National Academy of Sciences USA 97:8623-8628, 2000. [PubMed] [PDF]
36. Jacobson SG, CIDECIYAN AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Investigative Ophthalmology & Visual Science 41:1898-1908, 2000. [PubMed]
35. Huang Y, CIDECIYAN AV, Aleman TS, Banin E, Huang J, Syed NA, Petters RM, Wong F, Milam AH, Jacobson SG. Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration. Experimental Eye Research 70:247-251, 2000. [PubMed]
34. Haider NB, Jacobson SG, CIDECIYAN AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Mutation of a nuclear receptor gene (NR2E3) causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics 24:127-131, 2000. [PubMed] [News & Views]
33. Owsley C, Jackson GR, CIDECIYAN AV, Huang Y, Fine SL, Ho AC, Maguire MG, Lolley V, Jacobson SG. Psychophysical evidence for rod vulnerability in age-related macular degeneration. Investigative Ophthalmology & Visual Science 41:267-273, 2000. [PubMed]
32. CIDECIYAN AV. In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations. Methods in Enzymology 316:611-626, 2000. [PubMed]
Papers Published in 1999
31. Bennett J, Maguire AM, CIDECIYAN AV, Schnell M, Glover E, Anand V, Aleman TS, Chirmule N, Gupta AR, Huang Y, Gao G-P, Nyberg WC, Tazelaar J, Hughes J, Wilson JM, Jacobson SG. Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proceedings of the National Academy of Sciences USA 96:9920-9925, 1999. [PubMed] [PDF]
30. Banin E, CIDECIYAN AV, Aleman TS, Petters RM, Wong F, Milam AH, Jacobson SG. Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. Neuron 23:549-557, 1999. [PubMed]
29. Guillonneau X, Piriev NI, Danciger M, Kozak CA, CIDECIYAN AV, Jacobson SG, Farber DB. A mutation in a novel gene causes retinitis pigmentosa in a family linked to the RP1 locus. Human Molecular Genetics, 8:1541-1546, 1999. [PubMed]
28. Lewis CA, Batlle IR, Batlle KGR, Banerjee P, CIDECIYAN AV, Huang J, Aleman TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG. TULP1 (tubby-like protein 1) homozygous splice-site mutation causes early-onset severe retinal degeneration. Investigative Ophthalmology & Visual Science, 40:2106-2114, 1999. [PubMed]
Papers Published in 1998
27. Jacobson SG, CIDECIYAN AV, Huang Y, Hanna DB, Freund CL, Affatigato L, Carr RE, Zack DJ, Stone EM, McInnes RR. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Investigative Ophthalmology & Visual Science, 39:2417-2426, 1998. [PubMed]
26. CIDECIYAN AV, Hood DC, Huang Y, Banin E, Li Z-Y, Stone EM, Milam AH, Jacobson SG. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proceedings of the National Academy of Sciences USA, 95:7103-7108, 1998. [PubMed] [PDF]
25. Huang Y, CIDECIYAN AV, Papastergiou GI, Banin E, Semple-Rowland SL, Milam AH, Jacobson SG. Relation of optical coherence tomography to microanatomy in normal and rd chickens. Investigative Ophthalmology & Visual Science, 39:2405-2416, 1998. [PubMed]
24. Gieser L, Fujita R, Goring HHH, Ott J, Hoffman DR, CIDECIYAN AV, Birch DG, Jacobson SG, Swaroop A. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Americal Journal of Human Genetics, 63:1439-1447, 1998. [PubMed]
23. CIDECIYAN AV, Zhao X, Nielsen L, Khani SC, Jacobson SG, Palczewski K. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. Proceedings of the National Academy of Sciences USA, 95:328-333, 1998. [PubMed] [PDF]
Papers Published in 1997
22. Petters RM, Alexander CA, Wells KD, Collins EB, Sommer JR, Blanton MR, Rojas G, Hao Y, Flowers WL, Banin E, CIDECIYAN AV, Jacobson SG, Wong F. Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nature Biotechnology, 15:965-970, 1997. [PubMed]
21. Jacobson SG, Buraczynska M, Milam AH, Chen C, Jarvalainen M, Fujita R, Wu W, Huang Y, CIDECIYAN AV, Swaroop A. Disease expression in x-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Investigative Ophthalmology & Visual Science, 38:1983-1997, 1997. [PubMed]
20. CIDECIYAN AV, Lamb TD, Pugh EN Jr, Huang Y, Jacobson SG. Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Investigative Ophthalmology & Visual Science, 38:1786-1794, 1997. [PubMed]
Papers Published in 1996
19. Jacobson SG, CIDECIYAN AV, Maguire AM, Bennett J, Sheffield VC, Stone EM. Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. Experimental Eye Research, 63:603-608, 1996. [PubMed]
18. Greenstein VC, Zaidi Q, Hood DC, De Bonet JS, Spehar B, CIDECIYAN AV, Jacobson SG. The enhanced S cone syndrome: An analysis of receptoral and post-receptoral changes. Vision Research, 36:3711-3722, 1996. [PubMed]
17. Kuntz CA, Jacobson SG, CIDECIYAN AV, Li Z-Y, Stone EM, Possin D, Milam AH. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Investigative Ophthalmology & Visual Science, 37:1772-1782, 1996. [PubMed]
16. CIDECIYAN AV and Jacobson SG. An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age. Vision Research 36:2609-2621, 1996. [PubMed]
15. Jacobson SG, CIDECIYAN AV, Kemp CM, Sheffield VC, Stone EM. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Investigative Ophthalmology & Visual Science, 37:1662-1674, 1996. [PubMed]
14. Milam AH, Li Z-Y, CIDECIYAN AV, Jacobson SG. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 37:753-765, 1996. [PubMed]
13. Hood DC, CIDECIYAN AV, Halevy DA and Jacobson SG. Sites of disease action in a retinopathy with supernormal and delayed rod electroretinogram b-waves. Vision Research 36:889-901, 1996. [PubMed]
Papers Published in 1990-1995
12. Jacobson SG, CIDECIYAN AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC and Stone EM. Night blindness in a TIMP3-associated Sorsby's fundus dystrophy is reversed by vitamin A. Nature Genetics 11:27-32, 1995. [PubMed]
11. Jacobson SG, Morales DS, Sun XK, Feuer WJ, CIDECIYAN AV, Gass JDM, Milam AH. Pattern of retinal dysfunction in acute zonal occult outer retinopathy. Ophthalmology 102:1187-1198, 1995. [PubMed]
10. Sakuma H, Inana G, Murakami A, Yajima T, Weleber RG, Murphey WH, Gass JDM, Hotta Y, Hayakawa M, Fujiki K, Gao YQ, Danciger M, Farber D, CIDECIYAN AV, Jacobson SG. A heterozygous null mutation in ROM-1 without a mutation in rds/peripherin in a family with retinitis pigmentosa. Genomics 27:384-386, 1995. [PubMed]
9. CIDECIYAN AV. Registration of ocular fundus images by cross-correlation of triple invariant image descriptors. IEEE Engineering in Medicine & Biology 14:52-58, 1995.
8. Hood DC, CIDECIYAN AV, Roman AJ and Jacobson SG. Enhanced S cone syndrome: Evidence for an abnormally large number of S cones. Vision Research 35:1473-1481, 1995. [PubMed]
7. CIDECIYAN AV and Jacobson SG. Image analysis of the tapetal-like reflex in heterozygotes of X-linked retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 35:3812-3824, 1994. [PubMed]
6. Kemp CM, Jacobson SG, CIDECIYAN AV, Kimura AE, Sheffield VC and Stone EM. RDS gene mutations causing either macular degeneration or retinitis pigmentosa lead to similar abnormalities of dark adaptation. Investigative Ophthalmology & Visual Science, 35:3154-3162, 1994. [PubMed]
5. Jacobson SG, Kemp CM, CIDECIYAN AV, Macke JP, Sung C-H and Nathans J. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 35:2521-2534, 1994. [PubMed]
4. CIDECIYAN AV and Jacobson SG. Negative electroretinograms in retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 34:3253-3263, 1993. [PubMed]
3. Nagel JH and CIDECIYAN AV. Digital analysis of high resolution fundus images. Biomedical Engineering: Application, Basis and Communication 4:645-682, 1992.
2. Jacobson SG, Roman AJ, CIDECIYAN AV, Robey MG, Iwata T and Inana G. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Investigative Ophthalmology & Visual Science, 33:3481-3492, 1992. [PubMed]
1. CIDECIYAN AV and Mayrovitz HN. Microcomputer assisted determination of regional myocardial function. Medical & Biological Engineering & Computing, 28:591-594, 1990. [PubMed]