FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Samuel Jacobson

Research Profile

Disorders

Procedures

Physiology

Chemicals & Drugs

Anatomy

Concepts & Ideas

Co-author Network

Publications

TOP 3
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.
Sanford L Boye; Alexander M Dizhoor; Frank M Dyka; Thomas C Foster; William W Hauswirth; Wei Chieh Huang; Samuel G Jacobson; Sukanya Karan; Christine N Kay; Xuan Liu; Issam McDoom; Seok-Hong Min; Igor V Peshenko; Yumiko Umino; Wolfgang Baehr; Shannon E Boye
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.
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.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Samuel Jacobson (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

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: Sanford L Boye; Alexander M Dizhoor; Frank M Dyka; Thomas C Foster; William W Hauswirth; Wei Chieh Huang; Samuel G Jacobson; Sukanya Karan; Christine N Kay; Xuan Liu; Issam McDoom; Seok-Hong Min; Igor V Peshenko; Yumiko Umino; Wolfgang Baehr; Shannon E Boye
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.
Human gene therapy 2013;24(2):189-202.
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.
2012: Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012;53(13):8232-7.
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: Budd A Tucker; Adam P DeLuca; Jeremy M Hoffmann; Samuel G Jacobson; Rebecca M Johnston; robert Mullins; Todd E Scheetz; Val C Sheffield; Edwin M Stone
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(34):E569-76.
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: Catherine Deveault; Gail Billingsley; Jacque L Duncan; Jenea Bin; Rebecca Theal; Ajoy Vincent; Karen J Fieggen; Christina Gerth; Nima Noordeh; Elias I Traboulsi; Gerald A Fishman; David Chitayat; Tanja Knueppel; José M Millán; Francis L Munier; Debra Kennedy; Samuel G Jacobson; A Micheil Innes; Grant A Mitchell; Kym Boycott; Elise Héon
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Human mutation 2011;32(6):610-9.
2011: Xinhua Shu; Brian Tulloch; Heping Xu; Tomas S Aleman; Robin Ali; Susan E Barker; Mei Chen; Samuel G Jacobson; Alan Lennon; Ulrich Luhmann; Alan F Wright
Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
PloS one 2011;6(11):e27433.
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: Samuel G Jacobson; Artur V Cideciyan
Treatment possibilities for retinitis pigmentosa.
The New England journal of medicine 2010;363(17):1669-71.
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: Saloni Walia; Gerald A Fishman; Samuel G Jacobson; Tomas S Aleman; Robert K Koenekoop; Elias I Traboulsi; Richard G Weleber; Mark Pennesi; Elise Heon; Arlene Drack; Byron Lam; Rando Allikmets; Edwin M Stone
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology 2010;117(6):1190-8.
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.
2010: Alexa N Bramall; Alan F Wright; Samuel G Jacobson; Roderick R McInnes
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders.
Annual review of neuroscience 2010;33():441-72.
2009: Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue Zhong Liu
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Journal of human genetics 2009;54(12):732-8.
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: Alisdair R Philp; M Jin; S Li; E I Schindler; A Iannaccone; Byron Lam; Richard G Weleber; Gerald A Fishman; Samuel G Jacobson; robert Mullins; Gabriel H Travis; Edwin M Stone
Predicting the pathogenicity of RPE65 mutations.
Human mutation 2009;30(8):1183-8.
2009: David S Williams; Tomas S Aleman; Concepcion Lillo; Vanda S Lopes; Louise C Hughes; Edwin M Stone; Samuel G Jacobson
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.
Investigative ophthalmology & visual science 2009;50(8):3881-9.
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: 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: 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: James S Friedman; Bo Chang; Chitra Kannabiran; Christina F Chakarova; Hardeep Pal Singh; Subhadra Jalali; Norman L Hawes; Kari E H Branham; Mohammad I Othman; Elena Filippova; Debra A Thompson; Andrew R Webster; Sten Andréasson; Samuel G Jacobson; Shomi S Bhattacharya; John R Heckenlively; Anand Swaroop
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
American journal of human genetics 2006;79(6):1059-70.
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: Debra A Thompson; Andreas R Janecke; Jessica Lange; Kecia L Feathers; Christian A Hübner; Christina L McHenry; David Wayne Stockton; Gabriele Rammesmayer; James R Lupski; Guillermo Antinolo; Carmen Ayuso; Montserrat Baiget; Peter Gouras; John R Heckenlively; Anneke I den Hollander; Samuel G Jacobson; Richard A Lewis; Paul Sieving; Bernd Wissinger; Suzanne Yzer; Eberhart Zrenner; Gerd Utermann; Andreas Gal
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
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: Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Ágnes Farkas; sten andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Hélène Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG 2005;13(3):302-8.
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: Goncalo Abecasis; Beverly M Yashar; Yu Zhao; Noor M Ghiasvand; Sepideh Zareparsi; Kari E H Branham; Adam C Reddick; Edward H Trager; Shigeo Yoshida; John Bahling; Elena Filippova; Susan G Elner; Mark W Johnson; Andrew K Vine; Paul Sieving; Samuel G Jacobson; Julia E Richards; Anand Swaroop
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.
American journal of human genetics 2004;74(3):482-94.
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.
2003: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Gretel Beck; Kevin Bugge; Heidi L Haines; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Alessandro Iannaccone; Samuel G Jacobson; Richard G Weleber; Alan F Wright; Ruth Riise; Raoul Hennekam; Güven Lüleci; Sibel Berker-Karauzum; Leslie G Biesecker; Edwin M Stone; Val C Sheffield
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
American journal of human genetics 2003;72(2):429-37.
2003: Ceren Acar; Alan J Mears; Beverly M Yashar; Anjali S Maheshwary; sten andreasson; Alfonso Baldi; Paul Sieving; Alessandro Iannaccone; Maria A Musarella; Samuel G Jacobson; Anand Swaroop
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
Molecular vision 2003;9():14-7.
2002: Kirk Mykytyn; Darryl Y Nishimura; Charles C Searby; Mythreyi Shastri; Hsan-jan Yen; John S Beck; Terry Braun; Luan M Streb; Alberto S Cornier; Gerald F Cox; Anne B Fulton; Rivka Carmi; Güven Lüleci; Settara C Chandrasekharappa; Francis S Collins; Samuel G Jacobson; John R Heckenlively; Richard G Weleber; Edwin M Stone; Val C Sheffield
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Susanne Kohl; Britta Baumann; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Maria Vadalà; Samuel G Jacobson; Bernd Wissinger
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
American journal of human genetics 2002;71(2):422-5.
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: Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons Jr; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul Sieving; Anand Swaroop
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 2002;70(6):1545-54.
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: 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.
2002: Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
American journal of human genetics 2002;70(1):224-9.
2001: Fong-Qi Liang; Tomas S Aleman; Nadine S Dejneka; Lorita Dudus; Krishna J Fisher; Albert M Maguire; Samuel G Jacobson; Jean Bennett
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa.
Molecular therapy : the journal of the American Society of Gene Therapy 2001;4(5):461-72.
2001: Ann H Milam; Elaine De Castro; Julie E Smith; Wai-Xing Tang; Sinoj K John; Michael B Gorin; Edwin M Stone; Gustavo D Aguirre; Samuel G Jacobson
Concentric retinitis pigmentosa: clinicopathologic correlations.
Experimental eye research 2001;73(4):493-508.
2001: Michael Danciger; J Hendrickson; Jessica Lyon; Carmel Toomes; John McHale; Gerald A Fishman; Chris F Inglehearn; Samuel G Jacobson; Debora B Farber
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Investigative ophthalmology & visual science 2001;42(11):2458-65.
2001: Bernd Wissinger; Daphne Gamer; Herbert Jägle; R Giorda; T Marx; S Mayer; Sabine Tippmann; Martina Broghammer; Bernhard Jurklies; Thomas Rosenberg; Samuel G Jacobson; E C Sener; S Tatlipinar; Carel B Hoyng; C Castellan; Pierre Bitoun; sten andreasson; Günther Rudolph; Ulrich Kellner; Birgit Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; Frans P M Cremers; Eckart Apfelstedt-Sylla; Eberhart Zrenner; Roberto Salati; Lindsay T Sharpe; Susanne Kohl
CNGA3 mutations in hereditary cone photoreceptor disorders.
American journal of human genetics 2001;69(4):722-37.
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: Kirk Mykytyn; Terry Braun; Rivka Carmi; Neena B Haider; Charles C Searby; M Shastri; Gretel Beck; Alan F Wright; Alessandro Iannaccone; Khalil Elbedour; Ruth Riise; Alfonso Baldi; A Raas-Rothschild; SW Gorman; David Duhl; Samuel G Jacobson; Thomas L Casavant; Edwin M Stone; Val C Sheffield
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Nature genetics 2001;28(2):188-91.
2001: AR Webster; Elise Héon; Andrew J Lotery; K Vandenburgh; Thomas L Casavant; Kean T Oh; G Beck; Gerald A Fishman; Byron Lam; A Levin; John R Heckenlively; Samuel G Jacobson; Richard G Weleber; Val C Sheffield; Edwin M Stone
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001;42(6):1179-89.
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.
2001: Darryl Y Nishimura; Charles C Searby; Rivka Carmi; Khalil Elbedour; L Van Maldergem; Anne B Fulton; Byron Lam; B R Powell; Ruth E Swiderski; K E Bugge; Neena B Haider; A E Kwitek-Black; L Ying; David Duhl; SW Gorman; E Heon; Alessandro Iannaccone; D Bonneau; Leslie G Biesecker; Samuel G Jacobson; Edwin M Stone; Val C Sheffield
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Human molecular genetics 2001;10(8):865-74.
2001: Andrew J Lotery; Samuel G Jacobson; Gerald A Fishman; Richard G Weleber; Anne B Fulton; P Namperumalsamy; Elise Héon; A V Levin; Sandeep Grover; Justin Rosenow; K K Kopp; Val C Sheffield; Edwin M Stone
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology 2001;119(3):415-20.
2001: Susan E Pearce-Kelling; Tomas S Aleman; A Nickle; Alan M Laties; Gustavo D Aguirre; Samuel G Jacobson; Gregory M Acland
Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.
Molecular vision 2001;7():42-7.
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: Debra A Thompson; P Gyürüs; L L Fleischer; Eve L Bingham; Christina L McHenry; E Apfelstedt-Sylla; E Zrenner; B Lorenz; Julia E Richards; Samuel G Jacobson; Paul Sieving; Andreas Gal
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Investigative ophthalmology & visual science 2000;41(13):4293-9.
2000: N Torben Bech-Hansen; MJ Naylor; TA Maybaum; Rebecca Sparkes; B Koop; David G Birch; A A Bergen; Clemens F M Prinsen; R C Polomeno; A Gal; A V Drack; Maria A Musarella; Samuel G Jacobson; R S Young; Richard G Weleber
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
Nature genetics 2000;26(3):319-23.
2000: Andreas Gal; Y Li; Debra A Thompson; J Weir; U Orth; Samuel G Jacobson; E Apfelstedt-Sylla; Douglas Vollrath
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
Nature genetics 2000;26(3):270-1.
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: 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: Andrew J Lotery; Francis L Munier; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Louisa M Affatigato; BE Nichols; Daniel F Schorderet; Val C Sheffield; Edwin M Stone
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(6):1291-6.
2000: Andrew J Lotery; P Namperumalsamy; Samuel G Jacobson; Richard G Weleber; Gerald A Fishman; Maria A Musarella; C S Hoyt; Elise Héon; A Levin; J Jan; Byron Lam; R E Carr; A Franklin; S Radha; Jean Andorf; Val C Sheffield; Edwin M Stone
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Archives of ophthalmology 2000;118(4):538-43.
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.
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.
1999: Yong-Qing Gao; Michael Danciger; R Longmuir; Natik I Piriev; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Edwin M Stone; Debora B Farber
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
Investigative ophthalmology & visual science 1999;40(8):1818-22.
1999: Alan J Mears; L Gieser; Denise Yan; C Chen; S Fahrner; Suja Hiriyanna; Ricardo Fujita; Samuel G Jacobson; Paul Sieving; Anand Swaroop
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 1999;64(3):897-900.
1998: Gerald A Fishman; Sandeep Grover; Samuel G Jacobson; Kenneth R Alexander; Deborah J Derlacki; W Wu; Monika Buraczynska; Anand Swaroop
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Ophthalmology 1998;105(12):2286-96.
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: Yong-Qing Gao; Michael Danciger; Novrouz B Akhmedov; D Y Zhao; John R Heckenlively; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Debora B Farber
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.
Molecular vision 1998;4():16.
1998: Bernd Wissinger; Herbert Jägle; Susanne Kohl; Martina Broghammer; Britta Baumann; D B Hanna; C Hedels; Eckart Apfelstedt-Sylla; G Randazzo; Samuel G Jacobson; Eberhart Zrenner; Lindsay T Sharpe
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
Genomics 1998;51(3):325-31.
1998: Susanne Kohl; T Marx; I Giddings; Herbert Jägle; Samuel G Jacobson; Eckart Apfelstedt-Sylla; Eberhart Zrenner; Lindsay T Sharpe; Bernd Wissinger
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Nature genetics 1998;19(3):257-9.
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: Prabodh K Swain; Shiming Chen; Q L Wang; Louisa M Affatigato; CL Coats; K D Brady; Gerald A Fishman; Samuel G Jacobson; Anand Swaroop; E Stone; Paul Sieving; Donald J Zack
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Neuron 1997;19(6):1329-36.
1997: Monika Buraczynska; W Wu; Ricardo Fujita; Kinga Buraczynska; E Phelps; Sten Andréasson; J Bennett; David G Birch; Gerald A Fishman; Dennis R Hoffman; George Inana; Samuel G Jacobson; Maria A Musarella; Paul Sieving; Anand Swaroop
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
American journal of human genetics 1997;61(6):1287-92.
1997: Carol L Freund-Taylor; Cheryl Y Gregory-Evans; T Furukawa; Mary Papaioannou; J Looser; LA Ploder; James Bellingham; D Ng; Jo-Anne Herbrick; A Duncan; Stephen W Scherer; Lap-Chee Tsui; A Loutradis-Anagnostou; Samuel G Jacobson; C L Cepko; Shomi S Bhattacharya; Roderick R McInnes
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Cell 1997;91(4):543-53.
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: Ricardo Fujita; Monika Buraczynska; L Gieser; W Wu; P Forsythe; Magnus Abrahamson; Samuel G Jacobson; Paul Sieving; Sten Andréasson; Anand Swaroop
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.
American journal of human genetics 1997;61(3):571-80.
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: Michael Danciger; V Heilbron; Yong-Qing Gao; D Y Zhao; Samuel G Jacobson; Debora B Farber
A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.
Molecular vision 1996;2():10.
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.
1996: Yong-Qing Gao; Michael Danciger; D Y Zhao; J Blaney; Natik I Piriev; J Shih; Samuel G Jacobson; John R Heckenlively; Debora B Farber
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.
Experimental eye research 1996;62(2):149-54.
1995: Michael Danciger; J Blaney; Yong-Qing Gao; D Y Zhao; John R Heckenlively; Samuel G Jacobson; Debora B Farber
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
Genomics 1995;30(1):1-7.
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: Yin Yao Shugart; P Banerjee; James A Knowles; C A Lewis; Samuel G Jacobson; T C Matise; Graciela Penchaszadeh; T Conrad Gilliam; Jurg Ott
Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.
American journal of human genetics 1995;57(2):499-502.
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: James A Knowles; Yin Yao Shugart; P Banerjee; T Conrad Gilliam; C A Lewis; Samuel G Jacobson; Jurg Ott
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
Human molecular genetics 1994;3(8):1401-3.
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.
1994: ZY Li; Samuel G Jacobson; Ann H Milam
Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry.
Experimental eye research 1994;58(4):397-408.
1993: Artur Vahe Cideciyan; Samuel G Jacobson
Negative electroretinograms in retinitis pigmentosa.
Investigative ophthalmology & visual science 1993;34(12):3253-63.
1993: H Imaki; Samuel G Jacobson; C M Kemp; Robert W Knighton; Martha Neuringer; J Sturman
Retinal morphology and visual pigment levels in 6- and 12-month-old rhesus monkeys fed a taurine-free human infant formula.
Journal of neuroscience research 1993;36(3):290-304.
1993: Jennifer P Macke; C M Davenport; Samuel G Jacobson; J C Hennessey; Federico Gonzalez-Fernandez; Brian P Conway; John R Heckenlively; R Palmer; Irene H Maumenee; P Sieving
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
American journal of human genetics 1993;53(1):80-9.
1993: Ann H Milam; John C Saari; Samuel G Jacobson; W P Lubinski; Lynn Feun; Kenneth R Alexander
Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy.
Investigative ophthalmology & visual science 1993;34(1):91-100.
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.
1992: C M Kemp; Samuel G Jacobson
Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration.
Experimental eye research 1992;54(6):947-56.
1992: S D Barrong; M H Chaitin; S J Fliesler; Daniel E Possin; Samuel G Jacobson; Ann H Milam
Ultrastructure of connecting cilia in different forms of retinitis pigmentosa.
Archives of ophthalmology 1992;110(5):706-10.
1992: C M Kemp; Samuel G Jacobson; A J Roman; C H Sung; Jeremy Nathans
Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.
American journal of ophthalmology 1992;113(2):165-74.
1991: Samuel G Jacobson; C M Kemp; C H Sung; Jeremy Nathans
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.
American journal of ophthalmology 1991;112(3):256-71.
1991: C H Sung; C M Davenport; J C Hennessey; Irene H Maumenee; Samuel G Jacobson; John R Heckenlively; R Nowakowski; Gerald A Fishman; Peter Gouras; Jeremy Nathans
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(15):6481-5.
1991: Samuel G Jacobson; A J Román; M I Román; J D Gass; J A Parker
Relatively enhanced S cone function in the Goldmann-Favre syndrome.
American journal of ophthalmology 1991;111(4):446-53.
1991: C M Kemp; Samuel G Jacobson
The distribution and kinetics of visual pigments in the owl monkey retina.
Experimental eye research 1991;52(3):329-35.
1990: Ann H Milam; Samuel G Jacobson
Photoreceptor rosettes with blue cone opsin immunoreactivity in retinitis pigmentosa.
Ophthalmology 1990;97(12):1620-31.
1990: Samuel G Jacobson; F X Borruat; P P Apáthy
Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.
American journal of ophthalmology 1990;109(6):676-88.
1990: Samuel G Jacobson; M F Marmor; C M Kemp; Robert W Knighton
SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.
Investigative ophthalmology & visual science 1990;31(5):827-38.
1989: Robert W Knighton; Samuel G Jacobson; C M Kemp
The spectral reflectance of the nerve fiber layer of the macaque retina.
Investigative ophthalmology & visual science 1989;30(11):2392-402.
1989: Samuel G Jacobson; C M Kemp; Kristina Narfström; S E Nilsson
Rhodopsin levels and rod-mediated function in Abyssinian cats with hereditary retinal degeneration.
Experimental eye research 1989;49(5):843-52.
1989: C M Kemp; Samuel G Jacobson; F X Borruat; M H Chaitin
Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency.
Experimental eye research 1989;49(1):49-65.
1989: Samuel G Jacobson; K Yagasaki; W J Feuer; A J Román
Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa.
Experimental eye research 1989;48(5):679-91.
1989: K Yagasaki; Samuel G Jacobson
Cone-rod dystrophy. Phenotypic diversity by retinal function testing.
Archives of ophthalmology 1989;107(5):701-8.
1988: C M Kemp; Samuel G Jacobson; D J Faulkner
Two types of visual dysfunction in autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 1988;29(8):1235-41.
1988: C M Kemp; D J Faulkner; Samuel G Jacobson
The distribution and kinetics of visual pigments in the cat retina.
Investigative ophthalmology & visual science 1988;29(7):1056-65.
1988: K Yagasaki; Samuel G Jacobson; P P Apáthy; Robert W Knighton
Rod and cone psychophysics and electroretinography: methods for comparison in retinal degenerations.
Documenta ophthalmologica. Advances in ophthalmology 1988;69(2):119-30.
1988: C M Kemp; Samuel G Jacobson; D J Faulkner; R W Walt
Visual function and rhodopsin levels in humans with vitamin A deficiency.
Experimental eye research 1988;46(2):185-97.
1988: G S Tucker; Samuel G Jacobson
Morphological findings in retinitis pigmentosa with early diffuse rod dysfunction.
Retina (Philadelphia, Pa.) 1988;8(1):30-41.
1987: Samuel G Jacobson; C M Kemp; F X Borruat; M H Chaitin; D J Faulkner
Rhodopsin topography and rod-mediated function in cats with the retinal degeneration of taurine deficiency.
Experimental eye research 1987;45(4):481-90.
1987: Samuel G Jacobson; H Ikeda; K Ruddock
Cone-mediated retinal function in cats during development.
Documenta ophthalmologica. Advances in ophthalmology 1987;65(1):7-14.
1986: Samuel G Jacobson; W J Voigt; Jean-Marie Parel; P P Apáthy; L Nghiem-Phu; S W Myers; Vincent Michael Patella
Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa.
Ophthalmology 1986;93(12):1604-11.
1983: C M Kemp; D J Faulkner; Samuel G Jacobson
Visual pigment levels in retinitis pigmentosa.
Transactions of the ophthalmological societies of the United Kingdom 1983;103 ( Pt 4)():453-7.