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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

xxxx countless others xxxxxx

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]

Last updated Sept 13, 2018