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Elizabeth Windsor

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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.
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.
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.

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All Publications

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: 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: 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: 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: 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: 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: 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.
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: 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: 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.