Samuel G. Jacobson
Department of Ophthalmology
University of Pennsylvania
Philadelphia
USA
Name/email consistency: high
- Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Roman, A.J., Swider, M., Schwartz, S.B., Banin, E., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2011)
- Normal central retinal function and structure preserved in retinitis pigmentosa. Jacobson, S.G., Roman, A.J., Aleman, T.S., Sumaroka, A., Herrera, W., Windsor, E.A., Atkinson, L.A., Schwartz, S.B., Steinberg, J.D., Cideciyan, A.V. Invest. Ophthalmol. Vis. Sci. (2010)
- Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Jacobson, S.G., Aleman, T.S., Sumaroka, A., Cideciyan, A.V., Roman, A.J., Windsor, E.A., Schwartz, S.B., Rehm, H.L., Kimberling, W.J. Invest. Ophthalmol. Vis. Sci. (2009)
- Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Sumaroka, A., Schwartz, S.B., Windsor, E.A., Swider, M., Herrera, W., Stone, E.M. Mol. Vis. (2009)
- Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Roman, A.J., Sumaroka, A., Windsor, E.A., Schwartz, S.B., Heon, E., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2009)
- Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Windsor, E.A., Schwartz, S.B., Heon, E., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2008)
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Roman, A.J., Gardner, L.M., Prosser, H.M., Mishra, M., Bech-Hansen, N.T., Herrera, W., Schwartz, S.B., Liu, X.Z., Kimberling, W.J., Steel, K.P., Williams, D.S. Hum. Mol. Genet. (2008)
- Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Schwartz, S.B., Roman, A.J., Stone, E.M. Ophthalmology (2007)
- Human cone photoreceptor dependence on RPE65 isomerase. Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Heon, E., Golczak, M., Beltran, W.A., Sumaroka, A., Schwartz, S.B., Roman, A.J., Windsor, E.A., Wilson, J.M., Aguirre, G.D., Stone, E.M., Palczewski, K. Proc. Natl. Acad. Sci. U.S.A. (2007)
- RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Schwartz, S.B., Windsor, E.A., Roman, A.J., Heon, E., Stone, E.M., Thompson, D.A. Invest. Ophthalmol. Vis. Sci. (2007)
- Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Jacobson, S.G., Acland, G.M., Aguirre, G.D., Aleman, T.S., Schwartz, S.B., Cideciyan, A.V., Zeiss, C.J., Komaromy, A.M., Kaushal, S., Roman, A.J., Windsor, E.A., Sumaroka, A., Pearce-Kelling, S.E., Conlon, T.J., Chiodo, V.A., Boye, S.L., Flotte, T.R., Maguire, A.M., Bennett, J., Hauswirth, W.W. Mol. Ther. (2006)
- Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Jacobson, S.G., Cideciyan, A.V., Sumaroka, A., Aleman, T.S., Schwartz, S.B., Windsor, E.A., Roman, A.J., Stone, E.M., MacDonald, I.M. Invest. Ophthalmol. Vis. Sci. (2006)
- Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Jacobson, S.G., Boye, S.L., Aleman, T.S., Conlon, T.J., Zeiss, C.J., Roman, A.J., Cideciyan, A.V., Schwartz, S.B., Komaromy, A.M., Doobrajh, M., Cheung, A.Y., Sumaroka, A., Pearce-Kelling, S.E., Aguirre, G.D., Kaushal, S., Maguire, A.M., Flotte, T.R., Hauswirth, W.W. Hum. Gene Ther. (2006)
- Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Jacobson, S.G., Aleman, T.S., Cideciyan, A.V., Sumaroka, A., Schwartz, S.B., Windsor, E.A., Traboulsi, E.I., Heon, E., Pittler, S.J., Milam, A.H., Maguire, A.M., Palczewski, K., Stone, E.M., Bennett, J. Proc. Natl. Acad. Sci. U.S.A. (2005)
- Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Jacobson, S.G., Sumaroka, A., Aleman, T.S., Cideciyan, A.V., Schwartz, S.B., Roman, A.J., McInnes, R.R., Sheffield, V.C., Stone, E.M., Swaroop, A., Wright, A.F. Hum. Mol. Genet. (2004)
- Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Pianta, M.J., Sumaroka, A., Schwartz, S.B., Smilko, E.E., Milam, A.H., Sheffield, V.C., Stone, E.M. Hum. Mol. Genet. (2003)
- Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Jacobson, S.G., Cideciyan, A.V., Bennett, J., Kingsley, R.M., Sheffield, V.C., Stone, E.M. Arch. Ophthalmol. (2002)
- Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Jacobson, S.G., Cideciyan, A.V., Wright, E., Wright, A.F. Invest. Ophthalmol. Vis. Sci. (2001)
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Jacobson, S.G., Cideciyan, A.V., Iannaccone, A., Weleber, R.G., Fishman, G.A., Maguire, A.M., Affatigato, L.M., Bennett, J., Pierce, E.A., Danciger, M., Farber, D.B., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (2000)
