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Artur Vahe Cideciyan

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Artur Vahe Cideciyan; William W Hauswirth; Simone Iwabe; Samuel G Jacobson; András M Komáromy; Melani B Olivares; Alejandro J Roman; Sharon B Schwartz; Alexander Sumaroka; Malgorzata Swider; William A Beltran; Gustavo D Aguirre
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Sam Sadigh; Dwight Stambolian; Janet D Steinberg; Alexander Sumaroka; Malgorzata Swider; Artur Vahe Cideciyan; Wei Chieh Huang; Xunda Luo; Samuel G Jacobson
Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration.
Alejandro J Roman; Sharon B Schwartz; Artur Vahe Cideciyan; Elise Heon; Melani B Olivares; Samuel G Jacobson
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

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2013: Artur Vahe Cideciyan; William W Hauswirth; Simone Iwabe; Samuel G Jacobson; András M Komáromy; Melani B Olivares; Alejandro J Roman; Sharon B Schwartz; Alexander Sumaroka; Malgorzata Swider; William A Beltran; Gustavo D Aguirre
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(6):E517-25.
2013: Sam Sadigh; Dwight Stambolian; Janet D Steinberg; Alexander Sumaroka; Malgorzata Swider; Artur Vahe Cideciyan; Wei Chieh Huang; Xunda Luo; Samuel G Jacobson
Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration.
Investigative ophthalmology & visual science 2013;54(3):1603-12.
2013: Alejandro J Roman; Sharon B Schwartz; Artur Vahe Cideciyan; Elise Heon; Melani B Olivares; Samuel G Jacobson
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2013;54(2):1378-83.
2013: Samuel G Jacobson; Melani B Olivares; Elena V Olshevskaya; Igor V Peshenko; Alejandro J Roman; Sam Sadigh; Sharon B Schwartz; Edwin M Stone; Alexander Sumaroka; King-Wai Yau; Lihui Cao; Artur Vahe Cideciyan; Elise Heon; Alexander M Dizhoor
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 2013;22(1):168-83.
2012: Astra Dinculescu; Jackie Estreicher; William W Hauswirth; Wei Chieh Huang; Tomas S Aleman; Sanford L Boye; Beatriz Buentello-Volante; Vince A Chiodo; Artur Vahe Cideciyan; Wen-Tao Deng; Qiuhong Li; Xuan Liu; Margarita Matias-Florentino; Seok-Hong Min; Andy Neeley; Alejandro J Roman; Sharon B Schwartz; Xinhua Shu; Alexander Sumaroka; Juan C Zenteno; Samuel G Jacobson
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Human gene therapy 2012;23(4):367-76.
2012: William A Beltran; Sanford L Boye; Vince A Chiodo; Artur Vahe Cideciyan; Wen-Tao Deng; Diego S Fajardo; Sem Genini; William W Hauswirth; Simone Iwabe; Samuel G Jacobson; Hemant Khanna; Alfred S Lewin; Alejandro J Román; Alexander Sumaroka; Anand Swaroop; Malgorzata Swider; TS Alemán; Gustavo D Aguirre
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(6):2132-7.
2012: Artur Vahe Cideciyan; Willam J Feuer; Tomas S Aleman; Robert C Russell; Sharon B Schwartz; Janet D Steinberg; Edwin M Stone; Malgorzata Swider; Samuel G Jacobson
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
Investigative ophthalmology & visual science 2012;53(2):841-52.
2012: Wei Chieh Huang; Peter Bell; Artur Vahe Cideciyan; Dina Y Gewaily; Maria P Limberis; Forbes D Manson; Alejandro J Roman; Sam Sadigh; Sharon B Schwartz; Anand Swaroop; James M Wilson; Alan F Wright; Samuel G Jacobson
RPGR-associated retinal degeneration in human X-linked RP and a murine model.
Investigative ophthalmology & visual science 2012;53(9):5594-608.
2011: Tomas S Aleman; Peter Bell; Artur Vahe Cideciyan; Wei Chieh Huang; Geoffrey K Aguirre; Maria P Limberis; Cristina L Mullins; Melani B Olivares; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Alexander Sumaroka; Frank F Tsai; Luk H Vandenberghe; James M Wilson; Samuel G Jacobson
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
Investigative ophthalmology & visual science 2011;52(9):6898-910.
2011: Samuel G Jacobson; Margaret A Kenna; William J Kimberling; Melani B Olivares; Heidi L Rehm; Alejandro J Roman; Robert C Russell; Sharon B Schwartz; Janet D Steinberg; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Dan Gibbs; David S Williams
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Investigative ophthalmology & visual science 2011;52(11):7924-36.
2011: Edwin M Stone; Artur Vahe Cideciyan; Tomas S Aleman; Todd E Scheetz; Alexander Sumaroka; Mary A Ehlinger; Sharon B Schwartz; Gerald A Fishman; Elias I Traboulsi; Byron Lam; Anne B Fulton; robert Mullins; Val C Sheffield; Samuel G Jacobson
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Archives of ophthalmology 2011;129(1):81-7.
2011: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Alejandro J Roman; Malgorzata Swider; Sharon B Schwartz; Eyal Banin; Edwin M Stone
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Investigative ophthalmology & visual science 2011;52(1):70-9.
2010: Rafael C Caruso; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; Alexander Sumaroka; Cristina L Mullins; Sanford L Boye; William W Hauswirth; Samuel G Jacobson
Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Investigative ophthalmology & visual science 2010;51(10):5304-13.
2010: Samuel G Jacobson; Alejandro J Roman; Tomas S Aleman; Alexander Sumaroka; Waldo Herrera; Elizabeth A M Windsor; Lori A Atkinson; Sharon B Schwartz; Janet D Steinberg; Artur Vahe Cideciyan
Normal central retinal function and structure preserved in retinitis pigmentosa.
Investigative ophthalmology & visual science 2010;51(2):1079-85.
2009: Tomas S Aleman; Nagasamy Soumittra; Artur Vahe Cideciyan; Alexander M Sumaroka; Vedam Lakshmi Ramprasad; Waldo Herrera; Elizabeth A M Windsor; Sharon B Schwartz; Robert C Russell; Alejandro J Roman; Chris F Inglehearn; Govindasamy Kumaramanickavel; Edwin M Stone; Gerald A Fishman; Samuel G Jacobson
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Investigative ophthalmology & visual science 2009;50(12):5944-54.
2009: Artur Vahe Cideciyan; William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Sharon B Schwartz; Sanford L Boye; Elizabeth A M Windsor; Thomas J Conlon; Alexander Sumaroka; Ji-Jing Pang; Alejandro J Roman; Barry J Byrne; Samuel G Jacobson
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Human gene therapy 2009;20(9):999-1004.
2009: Tadao Maeda; Artur Vahe Cideciyan; Akiko Maeda; Marcin Golczak; Tomas S Aleman; Samuel G Jacobson; Krzysztof Palczewski
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Human molecular genetics 2009;18(12):2277-87.
2009: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Elise Heon; Edwin M Stone
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2009;50(5):2368-75.
2009: Samuel G Jacobson; Tomas S Aleman; Alexander Sumaroka; Artur Vahe Cideciyan; Alejandro J Roman; Elizabeth A M Windsor; Sharon B Schwartz; Heidi L Rehm; William J Kimberling
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Investigative ophthalmology & visual science 2009;50(4):1886-94.
2009: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Yaroslav Tsybovsky; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Alexander Sumaroka; Janet D Steinberg; Samuel G Jacobson; Edwin M Stone; Krzysztof Palczewski
ABCA4 disease progression and a proposed strategy for gene therapy.
Human molecular genetics 2009;18(5):931-41.
2009: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Malgorzata Swider; Waldo Herrera; Edwin M Stone
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Molecular vision 2009;15():1098-106.
2009: Tomas S Aleman; Byron Lam; Artur Vahe Cideciyan; Alexander Sumaroka; Elizabeth A M Windsor; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.
Eye (London, England) 2009;23(1):230-3.
2008: William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Artur Vahe Cideciyan; Sharon B Schwartz; Lili Wang; Thomas J Conlon; Sanford L Boye; Terence R Flotte; Barry J Byrne; Samuel G Jacobson
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 2008;19(10):979-90.
2008: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Elise Heon; Edwin M Stone
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2008;49(10):4573-7.
2008: Artur Vahe Cideciyan; Tomas S Aleman; Sanford L Boye; Sharon B Schwartz; Shalesh Kaushal; Alejandro J Roman; Ji-Jing Pang; Alexander Sumaroka; Elizabeth A M Windsor; James M Wilson; Terence R Flotte; Gerald A Fishman; Elise Heon; Edwin M Stone; Barry J Byrne; Samuel G Jacobson; William W Hauswirth
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 of the United States of America 2008;105(39):15112-7.
2008: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Alejandro J Roman; Leigh M Gardner; Haydn M Prosser; Monalisa Mishra; N Torben Bech-Hansen; Waldo Herrera; Sharon B Schwartz; Xue Zhong Liu; William J Kimberling; Karen P Steel; David S Williams
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Human molecular genetics 2008;17(15):2405-15.
2008: Veronique B D Kitiratschky; Tanja Grau; Antje Bernd; Eberhart Zrenner; Herbert Jägle; Agnes B Renner; Ulrich Kellner; Günther Rudolph; Samuel G Jacobson; Artur Vahe Cideciyan; Simone Schaich; Susanne Kohl; Bernd Wissinger
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
European journal of human genetics : EJHG 2008;16(7):812-9.
2008: Waldo Herrera; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; E Banin; Tamar Ben-Yosef; Leigh M Gardner; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Edwin M Stone; Xue Zhong Liu; William J Kimberling; Samuel G Jacobson
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Investigative ophthalmology & visual science 2008;49(6):2651-60.
2008: Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Elizabeth A M Windsor; Waldo Herrera; D Alan White; Shalesh Kaushal; Anjani Naidu; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.
Investigative ophthalmology & visual science 2008;49(4):1580-90.
2007: Artur Vahe Cideciyan; Tomas S Aleman; Samuel G Jacobson; Hemant Khanna; Alexander Sumaroka; Geoffrey K Aguirre; Sharon B Schwartz; Elizabeth A M Windsor; Shirley He; Bo Chang; Edwin M Stone; Anand Swaroop
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 2007;28(11):1074-83.
2007: Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; Janet D Steinberg; Kari E H Branham; Mohammad I Othman; Anand Swaroop; Samuel G Jacobson
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
Investigative ophthalmology & visual science 2007;48(10):4759-65.
2007: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Elise Heon; Marcin Golczak; William A Beltran; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; James M Wilson; Gustavo D Aguirre; Edwin M Stone; Krzysztof Palczewski
Human cone photoreceptor dependence on RPE65 isomerase.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(38):15123-8.
2007: Alejandro J Roman; Artur Vahe Cideciyan; Tomas S Aleman; Samuel G Jacobson
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.
Physiological measurement 2007;28(8):N51-6.
2007: Geoffrey K Aguirre; András M Komáromy; Artur Vahe Cideciyan; David H Brainard; Tomas S Aleman; Alejandro J Roman; Brian Avants; James C Gee; Marc Korczykowski; William W Hauswirth; Gregory M Acland; Gustavo D Aguirre; Samuel G Jacobson
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
PLoS medicine 2007;4(6):e230.
2007: Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Michael Danciger; Debora B Farber
Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation.
The British journal of ophthalmology 2007;91(5):699-701.
2007: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Marisa I Roman; Alexander Sumaroka; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.
Journal of the Optical Society of America. A, Optics, image science, and vision 2007;24(5):1457-67.
2007: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Edwin M Stone
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
Ophthalmology 2007;114(5):895-8.
2007: Tomas S Aleman; Artur Vahe Cideciyan; Elizabeth A M Windsor; Sharon B Schwartz; Malgorzata Swider; John D Chico; Alexander Sumaroka; Alexander Y Pantelyat; Keith G Duncan; Leigh M Gardner; Jessica M Emmons; Janet D Steinberg; Edwin M Stone; Samuel G Jacobson
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Investigative ophthalmology & visual science 2007;48(3):1319-29.
2007: Alejandro J Roman; Sanford L Boye; Tomas S Aleman; Ji-Jing Pang; J Hugh McDowell; Shannon E Boye; Artur Vahe Cideciyan; Samuel G Jacobson; William W Hauswirth
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
Molecular vision 2007;13():1701-10.
2007: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Elise Heon; Edwin M Stone; Debra A Thompson
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Investigative ophthalmology & visual science 2007;48(1):332-8.
2006: Amir A Azari; Tomas S Aleman; Artur Vahe Cideciyan; Sharon B Schwartz; Elizabeth A M Windsor; Alexander Sumaroka; Andy Y Cheung; Janet D Steinberg; Alejandro J Roman; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Investigative ophthalmology & visual science 2006;47(11):5004-10.
2006: Samuel G Jacobson; Artur Vahe Cideciyan; Alexander Sumaroka; Tomas S Aleman; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Edwin M Stone; Ian M MacDonald
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
Investigative ophthalmology & visual science 2006;47(9):4113-20.
2006: Hong Cheng; Tomas S Aleman; Artur Vahe Cideciyan; Ritu Khanna; Samuel G Jacobson; Anand Swaroop
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.
Human molecular genetics 2006;15(17):2588-602.
2006: Samuel G Jacobson; Sanford L Boye; Tomas S Aleman; Thomas J Conlon; Caroline J Zeiss; Alejandro J Roman; Artur Vahe Cideciyan; Sharon B Schwartz; Andras M Komaromy; Michelle Doobrajh; Andy Y Cheung; Alexander Sumaroka; Susan E Pearce-Kelling; Gustavo D Aguirre; Shalesh Kaushal; Albert M Maguire; Terence R Flotte; William W Hauswirth
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.
Human gene therapy 2006;17(8):845-58.
2006: Melissa L Williams; Jason E Coleman; Shannon E Haire; Tomas S Aleman; Artur Vahe Cideciyan; Izabel Sokal; Krzysztof Palczewski; Samuel G Jacobson; Susan L Semple-Rowland
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.
PLoS medicine 2006;3(6):e201.
2006: Samuel G Jacobson; Gregory M Acland; Gustavo D Aguirre; Tomas S Aleman; Sharon B Schwartz; Artur Vahe Cideciyan; Caroline J Zeiss; Andras M Komaromy; Shalesh Kaushal; Alejandro J Roman; Elizabeth A M Windsor; Alexander Sumaroka; Susan E Pearce-Kelling; Thomas J Conlon; Vince A Chiodo; Sanford L Boye; Terence R Flotte; Albert M Maguire; Jean Bennett; William W Hauswirth
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;13(6):1074-84.
2006: Xinhua Shu; Brian Tulloch; Alan Lennon; Caroline Hayward; Mary O'Connell; Artur Vahe Cideciyan; Samuel G Jacobson; Alan F Wright
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 2006;572():41-8.
2005: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Marisa I Roman; Ann H Milam; Jean Bennett; Edwin M Stone; Samuel G Jacobson
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.
Investigative ophthalmology & visual science 2005;46(12):4739-46.
2005: Gregory M Acland; Gustavo D Aguirre; Jean Bennett; Tomas S Aleman; Artur Vahe Cideciyan; Jeannette Bennicelli; Nadine S Dejneka; Susan E Pearce-Kelling; Albert M Maguire; Krzysztof Palczewski; William W Hauswirth; Samuel G Jacobson
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 : the journal of the American Society of Gene Therapy 2005;12(6):1072-82.
2005: Gerald A Fishman; Samuel G Jacobson; Kenneth R Alexander; Artur Vahe Cideciyan; David G Birch; Richard G Weleber; Donald C Hood
Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.
Retina (Philadelphia, Pa.) 2005;25(6):772-7.
2005: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Elias Traboulsi; Elise Heon; Steven J Pittler; Ann H Milam; Albert M Maguire; Krzysztof Palczewski; Edwin M Stone; Jean Bennett
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(17):6177-82.
2005: Artur Vahe Cideciyan; Samuel G Jacobson; Tomas S Aleman; Danian Gu; Susan E Pearce-Kelling; Alexander Sumaroka; Gregory M Acland; Gustavo D Aguirre
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 of the United States of America 2005;102(14):5233-8.
2005: Corinna Lebherz; Albert M Maguire; Alberto Auricchio; Waixing Tang; Tomas S Aleman; Zhangyong Wei; Rebecca Grant; Artur Vahe Cideciyan; Samuel G Jacobson; James M Wilson; Jean Bennett
Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor.
Diabetes 2005;54(4):1141-9.
2005: Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; Elizabeth A M Windsor; Alexander Sumaroka; Alejandro J Roman; Tej Rane; Elaine E Smilko; Jean Bennett; Edwin M Stone; William J Kimberling; Xue Zhong Liu; Samuel G Jacobson
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Investigative ophthalmology & visual science 2005;46(2):734-43.
2005: Alejandro J Roman; Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; John D Chico; Elizabeth A M Windsor; Leigh M Gardner; Gui-Shuang Ying; Elaine E Smilko; Maureen G Maguire; Samuel G Jacobson
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures.
Experimental eye research 2005;80(2):259-72.
2004: Alan F Wright; Samuel G Jacobson; Artur Vahe Cideciyan; Alejandro J Roman; Xinhua Shu; Dafni Vlachantoni; Roderick R McInnes; Rudolph A Riemersma
Lifespan and mitochondrial control of neurodegeneration.
Nature genetics 2004;36(11):1153-8.
2004: Alan F Wright; Adam C Reddick; Sharon B Schwartz; Julie S Ferguson; Tomas S Aleman; Ulrich Kellner; Bernhard Jurklies; Andreas Schuster; Eberhart Zrenner; Bernd Wissinger; Alan Lennon; Xinhua Shu; Artur Vahe Cideciyan; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Human mutation 2004;24(5):439.
2004: Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Sharon B Schwartz; Alejandro J Roman; Roderick R McInnes; Val C Sheffield; Edwin M Stone; Anand Swaroop; Alan F Wright
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics 2004;13(17):1893-902.
2004: Tomas S Aleman; Samuel G Jacobson; John D Chico; Michele L Scott; Andy Y Cheung; Elizabeth A M Windsor; Masatoshi Furushima; T Michael Redmond; Jean Bennett; Krzysztof Palczewski; Artur Vahe Cideciyan
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis.
Investigative ophthalmology & visual science 2004;45(4):1259-71.
2004: Artur Vahe Cideciyan; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Janet D Steinberg; Alexander J Brucker; Albert M Maguire; Jean Bennett; Edwin M Stone; Samuel G Jacobson
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Human molecular genetics 2004;13(5):525-34.
2004: Nadine S Dejneka; Enrico M Surace; Tomas S Aleman; Artur Vahe Cideciyan; Arkady L Lyubarsky; Andrey Savchenko; T Michael Redmond; Waixing Tang; Zhangyong Wei; Tonia Rex; Ernest Glover; Albert M Maguire; Edward N Pugh; Samuel G Jacobson; Jean Bennett
In utero gene therapy rescues vision in a murine model of congenital blindness.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;9(2):182-8.
2003: Caroline Hayward; Xinhua Shu; Artur Vahe Cideciyan; Alan Lennon; Perdita E Barran; Sepideh Zareparsi; Lindsay Sawyer; Grace Hendry; Baljean Dhillon; Ann H Milam; Philip J Luthert; Anand Swaroop; Nicholas D Hastie; Samuel G Jacobson; Alan F Wright
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 2003;12(20):2657-67.
2003: Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; Anand Swaroop; Samuel G Jacobson; Edwin M Stone
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
Investigative ophthalmology & visual science 2003;44(8):3593-7.
2003: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Michael J Pianta; Alexander Sumaroka; Sharon B Schwartz; Elaine E Smilko; Ann H Milam; Val C Sheffield; Edwin M Stone
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Human molecular genetics 2003;12(9):1073-8.
2003: Ann H Milam; Mark R Barakat; Nisha Gupta; Linda Rose; Tomas S Aleman; Michael J Pianta; Artur Vahe Cideciyan; Val C Sheffield; Edwin M Stone; Samuel G Jacobson
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
Ophthalmology 2003;110(3):549-58.
2003: Artur Vahe Cideciyan; Samuel G Jacobson; Nisha Gupta; Shoji Osawa; Kirsten G Locke; Ellen R Weiss; Alan F Wright; David G Birch; Ann H Milam
Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.
Investigative ophthalmology & visual science 2003;44(3):1268-74.
2003: Michael J Pianta; Tomas S Aleman; Artur Vahe Cideciyan; Janet S Sunness; Yuanyuan Li; Betsy A Campochiaro; Peter A Campochiaro; Donald J Zack; Edwin M Stone; Samuel G Jacobson
In vivo micropathology of Best macular dystrophy with optical coherence tomography.
Experimental eye research 2003;76(2):203-11.
2002: Kay Scilley; Gregory R Jackson; Artur Vahe Cideciyan; Maureen G Maguire; Samuel G Jacobson; Cynthia Owsley
Early age-related maculopathy and self-reported visual difficulty in daily life.
Ophthalmology 2002;109(7):1235-42.
2002: Tomas S Aleman; Artur Vahe Cideciyan; Nicholas J Volpe; Giovanni Stevanin; Alexis Brice; Samuel G Jacobson
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Experimental eye research 2002;74(6):737-45.
2002: James W Kijas; Artur Vahe Cideciyan; Tomas S Aleman; Michael J Pianta; Susan E Pearce-Kelling; Brian J Miller; Samuel G Jacobson; Gustavo D Aguirre; Gregory M Acland
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(9):6328-33.
2002: Jacque L Duncan; Tomas S Aleman; Leigh M Gardner; Elaine De Castro; Daniel A Marks; Jessica M Emmons; Michelle L Bieber; Janet D Steinberg; Jean Bennett; Edwin M Stone; Ian M MacDonald; Artur Vahe Cideciyan; Maureen G Maguire; Samuel G Jacobson
Macular pigment and lutein supplementation in choroideremia.
Experimental eye research 2002;74(3):371-81.
2002: Samuel G Jacobson; Artur Vahe Cideciyan; Jean Bennett; Ronald M Kingsley; Val C Sheffield; Edwin M Stone
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.
Archives of ophthalmology 2002;120(3):376-9.
2002: Ann H Milam; Linda Rose; Artur Vahe Cideciyan; Mark R Barakat; Wai-Xing Tang; Nisha Gupta; Tomas S Aleman; Alan F Wright; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):473-8.
2001: Tomas S Aleman; Matthew M LaVail; R Montemayor; Gui-Shuang Ying; Maureen G Maguire; Alan M Laties; Samuel G Jacobson; Artur Vahe Cideciyan
Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats.
Vision research 2001;41(21):2779-97.
2001: Samuel G Jacobson; Artur Vahe Cideciyan; E Wright; Alan F Wright
Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.
Investigative ophthalmology & visual science 2001;42(8):1882-90.
2001: Tomas S Aleman; Jacque L Duncan; M L Bieber; Elaine De Castro; D A Marks; Leigh M Gardner; Janet D Steinberg; Artur Vahe Cideciyan; Maureen G Maguire; Samuel G Jacobson
Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome.
Investigative ophthalmology & visual science 2001;42(8):1873-81.
2001: Gregory M Acland; Gustavo D Aguirre; J Ray; Q Zhang; Tomas S Aleman; Artur Vahe Cideciyan; Susan E Pearce-Kelling; Vibha Anand; Yong Zeng; Albert M Maguire; Samuel G Jacobson; William W Hauswirth; Jean Bennett
Gene therapy restores vision in a canine model of childhood blindness.
Nature genetics 2001;28(1):92-5.
2001: Fong-Qi Liang; Tomas S Aleman; Artur Vahe Cideciyan; Samuel G Jacobson; Jean Bennett
Melatonin delays photoreceptor degeneration in the rds/rds mouse.
Neuroreport 2001;12(5):1011-4.
2000: Ann H Milam; Christine A Curcio; Artur Vahe Cideciyan; S Saxena; Sinoj K John; Howard S Kruth; Goldis Malek; John R Heckenlively; Richard G Weleber; Samuel G Jacobson
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
Ophthalmology 2000;107(12):2256-66.
2000: Maria Giuseppina Miano; Samuel G Jacobson; Andrew D Carothers; Isabel M Hanson; Peter Teague; J Lovell; Artur Vahe Cideciyan; N Haider; Edwin M Stone; V C Sheffield; Alan F Wright
Pitfalls in homozygosity mapping.
American journal of human genetics 2000;67(5):1348-51.
2000: W J Poehner; M Fossarello; A L Rapoport; Tomas S Aleman; Artur Vahe Cideciyan; Samuel G Jacobson; Alan F Wright; Michael Danciger; Debora B Farber
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Molecular vision 2000;6():192-8.
2000: Artur Vahe Cideciyan; Francoise Haeseleer; Robert Fariss; Tomas S Aleman; G F Jang; Christophe Verlinde; Michael F Marmor; Samuel G Jacobson; Krzysztof Palczewski
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.
Visual neuroscience 2000;17(5):667-78.
2000: J Preston Van Hooser; Tomas S Aleman; Yu-Guang He; Artur Vahe Cideciyan; Vladimir Kuksa; S J Pittler; E M Stone; S G Jacobson; Krzysztof Palczewski
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(15):8623-8.
2000: Samuel G Jacobson; Artur Vahe Cideciyan; Alessandro Iannaccone; Richard G Weleber; Gerald A Fishman; Albert M Maguire; Louisa M Affatigato; Jean Bennett; Eric A Pierce; Michael Danciger; Debora B Farber; Edwin M Stone
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(7):1898-908.
2000: Y Huang; Artur Vahe Cideciyan; TS Alemán; E Banin; J Huang; Nasreen A Syed; Robert M Petters; Fulton Wong; Ann H Milam; Samuel G Jacobson
Optical coherence tomography (OCT) abnormalities in rhodopsin mutant transgenic swine with retinal degeneration.
Experimental eye research 2000;70(2):247-51.
2000: Neena B Haider; Samuel G Jacobson; Artur Vahe Cideciyan; Ruth E Swiderski; Luan M Streb; Charles C Searby; Gretel Beck; RR Hockey; D B Hanna; S Gorman; David Duhl; Rivka Carmi; J Bennett; Richard G Weleber; Gerald A Fishman; Alan F Wright; Edwin M Stone; Val C Sheffield
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Nature genetics 2000;24(2):127-31.
2000: Artur Vahe Cideciyan
In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Methods in enzymology 2000;316():611-26.
2000: Cynthia Owsley; Gregory R Jackson; Artur Vahe Cideciyan; Y Huang; Stuart L Fine; Allen C Ho; Maureen G Maguire; V Lolley; S G Jacobson
Psychophysical evidence for rod vulnerability in age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(1):267-73.
1999: Jean Bennett; Albert M Maguire; Artur Vahe Cideciyan; Matthias J Schnell; Ernest Glover; Vibha Anand; Tomas S Aleman; Narendra Chirmule; AR Gupta; Y Huang; Guang-Ping Gao; W C Nyberg; John Tazelaar; J Hughes; James M Wilson; Samuel G Jacobson
Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(17):9920-5.
1999: C A Lewis; I R Batlle; K G Batlle; P Banerjee; Artur Vahe Cideciyan; J Huang; TS Alemán; Y Huang; J Ott; T C Gilliam; J A Knowles; Samuel G Jacobson
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
Investigative ophthalmology & visual science 1999;40(9):2106-14.
1999: xavier guillonneau; Natik I Piriev; Michael Danciger; CA Kozak; Artur Vahe Cideciyan; Samuel G Jacobson; Debora B Farber
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
Human molecular genetics 1999;8(8):1541-6.
1999: E Banin; Artur Vahe Cideciyan; TS Alemán; Robert M Petters; Fulton Wong; Ann H Milam; Samuel G Jacobson
Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development.
Neuron 1999;23(3):549-57.
1998: Samuel G Jacobson; Artur Vahe Cideciyan; Y Huang; D B Hanna; Carol L Freund-Taylor; Louisa M Affatigato; R E Carr; Donald J Zack; Edwin M Stone; Roderick R McInnes
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Investigative ophthalmology & visual science 1998;39(12):2417-26.
1998: Y Huang; Artur Vahe Cideciyan; georgios papastergiou; E Banin; Susan L Semple-Rowland; Ann H Milam; Samuel G Jacobson
Relation of optical coherence tomography to microanatomy in normal and rd chickens.
Investigative ophthalmology & visual science 1998;39(12):2405-16.
1998: L Gieser; Ricardo Fujita; Harald HH Goring; Jurg Ott; Dennis R Hoffman; Artur Vahe Cideciyan; David G Birch; Samuel G Jacobson; Anand Swaroop
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
American journal of human genetics 1998;63(5):1439-47.
1998: Artur Vahe Cideciyan; D C Hood; Y Huang; E Banin; Z Y Li; Edwin M Stone; Ann H Milam; Samuel G Jacobson
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(12):7103-8.
1998: Artur Vahe Cideciyan; X Zhao; L Nielsen; Shahrokh C Khani; Samuel G Jacobson; Krzysztof Palczewski
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(1):328-33.
1997: Robert M Petters; C A Alexander; K D Wells; E Bruce Collins; Jeffrey R Sommer; M R Blanton; G Rojas; Ying Hao; WL Flowers; E Banin; Artur Vahe Cideciyan; Samuel G Jacobson; Fulton Wong
Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa.
Nature biotechnology 1997;15(10):965-70.
1997: Samuel G Jacobson; M Buraczynska; Ann H Milam; C Chen; M Järvaläinen; R Fujita; W Wu; Y Huang; Artur Vahe Cideciyan; Anand Swaroop
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Investigative ophthalmology & visual science 1997;38(10):1983-97.
1997: Artur Vahe Cideciyan; Edward N Pugh; Trevor D Lamb; Y Huang; Samuel G Jacobson
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency.
Investigative ophthalmology & visual science 1997;38(9):1786-94.
1996: Samuel G Jacobson; Artur Vahe Cideciyan; Albert M Maguire; J Bennett; V C Sheffield; E M Stone
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.
Experimental eye research 1996;63(5):603-8.
1996: Vivienne C Greenstein; Qasim Zaidi; Donald C Hood; Branka Spehar; Artur Vahe Cideciyan; Samuel G Jacobson
The enhanced S cone syndrome: an analysis of receptoral and post-receptoral changes.
Vision research 1996;36(22):3711-22.
1996: Artur Vahe Cideciyan; Samuel G Jacobson
An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.
Vision research 1996;36(16):2609-21.
1996: C A Kuntz; Samuel G Jacobson; Artur Vahe Cideciyan; ZY Li; E M Stone; Daniel E Possin; Ann H Milam
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.
Investigative ophthalmology & visual science 1996;37(9):1772-82.
1996: Samuel G Jacobson; Artur Vahe Cideciyan; C M Kemp; V C Sheffield; Edwin M Stone
Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.
Investigative ophthalmology & visual science 1996;37(8):1662-74.
1996: Ann H Milam; ZY Li; Artur Vahe Cideciyan; Samuel G Jacobson
Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa.
Investigative ophthalmology & visual science 1996;37(5):753-65.
1996: Donald C Hood; Artur Vahe Cideciyan; D A Halevy; Samuel G Jacobson
Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves.
Vision research 1996;36(6):889-901.
1995: Samuel G Jacobson; Artur Vahe Cideciyan; G Regunath; F J Rodriguez; K Vandenburgh; V C Sheffield; Edwin M Stone
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
Nature genetics 1995;11(1):27-32.
1995: Samuel G Jacobson; D S Morales; X K Sun; W J Feuer; Artur Vahe Cideciyan; J D Gass; Ann H Milam
Pattern of retinal dysfunction in acute zonal occult outer retinopathy.
Ophthalmology 1995;102(8):1187-98.
1995: Donald C Hood; Artur Vahe Cideciyan; A J Roman; Samuel G Jacobson
Enhanced S cone syndrome: evidence for an abnormally large number of S cones.
Vision research 1995;35(10):1473-81.
1994: Artur Vahe Cideciyan; Samuel G Jacobson
Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa.
Investigative ophthalmology & visual science 1994;35(11):3812-24.
1994: C M Kemp; Samuel G Jacobson; Artur Vahe Cideciyan; A E Kimura; V C Sheffield; Edwin M Stone
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
Investigative ophthalmology & visual science 1994;35(8):3154-62.
1994: Samuel G Jacobson; C M Kemp; Artur Vahe Cideciyan; Jennifer P Macke; C H Sung; Jeremy Nathans
Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
Investigative ophthalmology & visual science 1994;35(5):2521-34.
1993: Artur Vahe Cideciyan; Samuel G Jacobson
Negative electroretinograms in retinitis pigmentosa.
Investigative ophthalmology & visual science 1993;34(12):3253-63.
1992: Samuel G Jacobson; A J Roman; Artur Vahe Cideciyan; M G Robey; Takeshi Iwata; George Inana
X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.
Investigative ophthalmology & visual science 1992;33(13):3481-92.
1990: Artur Vahe Cideciyan; HARVEY MAYROVITZ
Microcomputer-assisted determination of regional myocardial function.
Medical & biological engineering & computing 1990;28(6):591-4.