Paul A. Sieving, MD PhD - Publications

Affiliations: 
1985-2001 Ophthalmology University of Michigan Medical School Ann Arbor 
 2001-2019 National Eye Institute, Bethesda, Maryland 
 2019- Ophthalmology University of California, Davis 
Area:
visual system, retina, genetics, retinal degeneration, gene therapy, Biomedical Engineering, Ophthalmology, Neuroscience Biology

203 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Mishra A, Vijaysarathy C, Cukras CA, Wiley HE, Sen HN, Zeng Y, Wei L, Sieving PA. Immune function in X-linked retinoschisis (XLRS) subjects in an AAV8-RS1 Phase I/IIa gene therapy trial. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 33601057 DOI: 10.1016/j.ymthe.2021.02.013  1
2020 Vijayasarathy C, Zeng Y, Brooks M, Fariss RN, Sieving PA. Genetic rescue of X-linked retinoschisis mouse (Rs1-/y) retina induces quiescence of the retinal microglial inflammatory state following AAV8-RS1 gene transfer and identifies gene networks underlying retinal recovery. Human Gene Therapy. PMID 33019822 DOI: 10.1089/hum.2020.213  1
2020 Song H, Zeng Y, Sardar Pasha SPB, Bush RA, Vijayasarathy C, Qian H, Wei L, Wiley HE, Wu Z, Sieving PA. Trans-Ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Transduction in Large Animal Eye After Intravitreal Vector Administration. Translational Vision Science & Technology. 9: 28. PMID 32844051 DOI: 10.1167/tvst.9.7.28  1
2020 Wright C, Mazzucco AE, Becker SM, Sieving PA, Tumminia SJ. NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future. Translational Vision Science & Technology. 9: 49. PMID 32832254 DOI: 10.1167/tvst.9.7.49  1
2020 Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, ... ... Sieving PA, et al. Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium. Translational Vision Science & Technology. 9: 2. PMID 32832209 DOI: 10.1167/tvst.9.7.2  1
2020 Zeng Y, Boyd R, Bartoe J, Wiley HE, Marangoni D, Wei LL, Sieving PA. "Para-retinal" Vector Administration into the Deep Vitreous Enhances Retinal Transgene Expression. Molecular Therapy. Methods & Clinical Development. 18: 422-427. PMID 32695844 DOI: 10.1016/j.omtm.2020.06.015  1
2019 Turriff A, Nolen R, D'Amanda C, Biesecker B, Cukras C, Sieving PA. "There are hills and valleys": Experiences of parenting a son with X-linked retinoschisis. American Journal of Ophthalmology. PMID 31765628 DOI: 10.1016/j.ajo.2019.11.023  1
2019 Bush RA, Tanikawa A, Zeng Y, Sieving PA. Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions. Investigative Ophthalmology & Visual Science. 60: 3680-3688. PMID 31469895 DOI: 10.1167/iovs.19-27242  1
2019 Zeng Y, Qian H, Wu Z, Marangoni D, Sieving PA, Bush RA. AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration. Gene Therapy. PMID 31308478 DOI: 10.1038/s41434-019-0094-3  1
2019 Turriff A, Blain D, Similuk M, Biesecker B, Wiley H, Cukras C, Sieving PA. Motivations and Decision-Making Processes of Men with X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial. American Journal of Ophthalmology. PMID 30885710 DOI: 10.1016/j.ajo.2019.03.009  1
2019 Song H, Bush RA, Zeng Y, Qian H, Wu Z, Sieving PA. Trans-ocular Electric Current Enhances AAV-Mediated Retinal Gene Transduction after Intravitreal Vector Administration. Molecular Therapy. Methods & Clinical Development. 13: 77-85. PMID 30719486 DOI: 10.1016/j.omtm.2018.12.006  1
2019 Mott MC, Austin CP, Bianchi DW, Cashion AK, Gordon JA, Heemskerk JE, Hodes RJ, Koob GF, Riley WT, Sieving PA, Shurtleff D, Somerman MJ, Volkow ND, Anderson KC, Owens DF, et al. The NIH Blueprint for Neuroscience Research Seeks Community Input on Future Neuroscience Investments. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 39: 774-775. PMID 30700523 DOI: 10.1523/JNEUROSCI.2742-18.2018  1
2019 Heymann JB, Vijayasarathy C, Huang RK, Dearborn AD, Sieving PA, Steven AC. Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina. The Journal of Cell Biology. PMID 30630865 DOI: 10.1083/jcb.201806148  1
2018 Bianchi DW, Cooper JA, Gordon JA, Heemskerk J, Hodes R, Koob GF, Koroshetz WJ, Shurtleff D, Sieving PA, Volkow ND, Churchill JD, Ramos KM. Neuroethics for the National Institutes of Health BRAIN Initiative. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 38: 10583-10585. PMID 30541766 DOI: 10.1523/JNEUROSCI.2091-18.2018  1
2018 Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, ... ... Sieving P, et al. Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. The Journal of Clinical Investigation. PMID 30418171 DOI: 10.1172/JCI96098  1
2018 Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, Vijayasarathy C, Marangoni D, Ziccardi L, Kjellstrom S, Park TK, Hiriyanna S, Wright JF, Colosi P, Wu Z, ... ... Sieving PA, et al. Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. Molecular Therapy : the Journal of the American Society of Gene Therapy. 26: 2282-2294. PMID 30196853 DOI: 10.1016/j.ymthe.2018.05.025  1
2018 Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, ... ... Sieving PA, et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Plos Genetics. 14: e1007504. PMID 30157172 DOI: 10.1371/journal.pgen.1007504  1
2018 Cukras CA, Huryn LA, Jeffrey BP, Turriff A, Sieving PA. Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis. Investigative Ophthalmology & Visual Science. 59: 2841-2847. PMID 30025115 DOI: 10.1167/iovs.17-23297  1
2018 Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, ... ... Sieving PA, et al. IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Human Genetics. PMID 29978320 DOI: 10.1007/s00439-018-1897-9  1
2018 MacDonald IM, Sieving PA. Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy. Ophthalmic Genetics. 1-10. PMID 29912604 DOI: 10.1080/13816810.2018.1484931  1
2018 Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Advances in Experimental Medicine and Biology. 1074: 229-236. PMID 29721948 DOI: 10.1007/978-3-319-75402-4_28  1
2018 Allahdina AM, Stetson PF, Vitale S, Wong WT, Chew EY, Iii FLF, Sieving PA, Cukras C. Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity. Investigative Ophthalmology & Visual Science. 59: 1953-1963. PMID 29677357 DOI: 10.1167/iovs.17-22668  1
2017 Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, ... ... Sieving PA, et al. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Investigative Ophthalmology & Visual Science. 58: 2218-2238. PMID 28418496 DOI: 10.1167/iovs.17-21424  1
2016 Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Narai N, Heckenlively JR, Frazar KA, Sieving PA, Ayyagari R. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiological Genomics. physiolgenomics.0010. PMID 27764769 DOI: 10.1152/physiolgenomics.00101.2016  1
2016 Marangoni D, Bush RA, Zeng Y, Wei LL, Ziccardi L, Vijayasarathy C, Bartoe JT, Palyada K, Santos M, Hiriyanna S, Wu Z, Colosi P, Sieving PA. Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. Molecular Therapy. Methods & Clinical Development. 5: 16011. PMID 27626041 DOI: 10.1038/mtm.2016.11  1
2016 Zeng Y, Petralia RS, Vijayasarathy C, Wu Z, Hiriyanna S, Song H, Wang YX, Sieving PA, Bush RA. Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. Investigative Ophthalmology & Visual Science. 57: OCT277-OCT287. PMID 27409484 DOI: 10.1167/iovs.15-18920  1
2016 Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. Retina (Philadelphia, Pa.). PMID 27388725 DOI: 10.1097/IAE.0000000000001113  1
2016 Song H, Vijayasarathy C, Zeng Y, Marangoni D, Bush RA, Wu Z, Sieving PA. NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice. Investigative Ophthalmology & Visual Science. 57: 2864-2875. PMID 27233035 DOI: 10.1167/iovs.15-18974  1
2016 Tolun G, Vijayasarathy C, Huang R, Zeng Y, Li Y, Steven AC, Sieving PA, Heymann JB. Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. Proceedings of the National Academy of Sciences of the United States of America. PMID 27114531 DOI: 10.1073/pnas.1519048113  1
2016 Bush RA, Zeng Y, Colosi P, Kjellstrom S, Hiriyanna S, Vijayasarathy C, Santos M, Li J, Wu Z, Sieving PA. Preclinical Dose Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. Human Gene Therapy. PMID 27036983 DOI: 10.1089/hum.2015.142  1
2016 Collins FS, Anderson JM, Austin CP, Battey JF, Birnbaum LS, Briggs JP, Clayton JA, Cuthbert B, Eisinger RW, Fauci AS, Gallin JI, Gibbons GH, Glass RI, Gottesman MM, Gray PA, ... ... Sieving PA, et al. Basic science: Bedrock of progress. Science (New York, N.Y.). 351: 1405. PMID 27013720 DOI: 10.1126/science.351.6280.1405-a  1
2016 Marangoni D, Bush RA, Zeng Y, Wei LL, Ziccardi L, Vijayasarathy C, Bartoe JT, Palyada K, Santos M, Hiriyanna S, Wu Z, Colosi P, Sieving PA. Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice Molecular Therapy - Methods and Clinical Development. 5. DOI: 10.1038/mtm.2016.11  1
2015 Marangoni D, Vijayasarathy C, Bush RA, Wei LL, Wen R, Sieving PA. Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. Investigative Ophthalmology & Visual Science. 56: 6810-6822. PMID 26567794 DOI: 10.1167/iovs.15-16866  1
2015 Bush RA, Wei LL, Sieving PA. Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis. Cold Spring Harbor Perspectives in Medicine. PMID 26101206 DOI: 10.1101/cshperspect.a017368  1
2015 Ou J, Vijayasarathy C, Ziccardi L, Chen S, Zeng Y, Marangoni D, Pope JG, Bush RA, Wu Z, Li W, Sieving PA. Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. The Journal of Clinical Investigation. PMID 26098217 DOI: 10.1172/JCI81380  1
2015 Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos MM, Gao C, Fariss R, Sieving PA, Li T, Colosi P, Swaroop A. A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. Human Molecular Genetics. 24: 3956-70. PMID 25877300 DOI: 10.1093/hmg/ddv134  1
2015 Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A. Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Disease Models & Mechanisms. 8: 109-29. PMID 25650393 DOI: 10.1242/dmm.017913  1
2015 Cukras C, Huynh N, Vitale S, Wong WT, Ferris FL, Sieving PA. Subjective and objective screening tests for hydroxychloroquine toxicity. Ophthalmology. 122: 356-66. PMID 25444344 DOI: 10.1016/j.ophtha.2014.07.056  1
2015 Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA. Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. Investigative Ophthalmology & Visual Science. 56: 107-14. PMID 25425308 DOI: 10.1167/iovs.14-15355  1
2014 Jeffrey BG, Cukras CA, Vitale S, Turriff A, Bowles K, Sieving PA. Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis. Translational Vision Science & Technology. 3: 5. PMID 25346871 DOI: 10.1167/tvst.3.5.5  1
2014 Marangoni D, Wu Z, Wiley HE, Zeiss CJ, Vijayasarathy C, Zeng Y, Hiriyanna S, Bush RA, Wei LL, Colosi P, Sieving PA. Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits. Human Gene Therapy. Clinical Development. 25: 202-11. PMID 25211193 DOI: 10.1089/humc.2014.067  1
2014 Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA. CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. Investigative Ophthalmology & Visual Science. 55: 6301-8. PMID 25205868 DOI: 10.1167/iovs.14-14860  1
2014 Ziccardi L, Vijayasarathy C, Bush RA, Sieving PA. Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation. Advances in Experimental Medicine and Biology. 801: 559-66. PMID 24664744 DOI: 10.1007/978-1-4614-3209-8_71  1
2014 Song H, Bush RA, Vijayasarathy C, Fariss RN, Kjellstrom S, Sieving PA. Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis. Investigative Ophthalmology & Visual Science. 55: 2659-68. PMID 24651551 DOI: 10.1167/iovs.13-13649  1
2014 Li D, Jin C, Jiao X, Li L, Bushra T, Naeem MA, Butt NH, Husnain T, Sieving PA, Riazuddin S, Riazuddin SA, Hejtmancik JF. AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration. Molecular Vision. 20: 1-14. PMID 24426771  1
2014 Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness. Ophthalmic Genetics. 35: 51-6. PMID 24397708 DOI: 10.3109/13816810.2013.865762  1
2013 Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP. Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Molecular Vision. 19: 2407-17. PMID 24319334  1
2013 D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X. Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. Molecular Vision. 19: 2209-16. PMID 24227916  1
2013 Kabir F, Naz S, Riazuddin SA, Naeem MA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. Molecular Vision. 19: 1554-64. PMID 23878505  1
2013 Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Human Molecular Genetics. 22: 4756-67. PMID 23847049 DOI: 10.1093/hmg/ddt329  1
2013 Swaroop A, Sieving PA. The golden era of ocular disease gene discovery: Race to the finish Clinical Genetics. 84: 99-101. PMID 23713688 DOI: 10.1111/cge.12204  1
2013 Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T. Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations. Jama Ophthalmology. 131: 1016-25. PMID 23681342 DOI: 10.1001/jamaophthalmol.2013.120  1
2012 Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving P. Fundus autofluorescence patterns in stargardt disease over time-reply. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 1354-5. PMID 23753838 DOI: 10.1001/archophthalmol.2012.2008  1
2012 Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. Plos One. 7: e50205. PMID 23189188 DOI: 10.1371/journal.pone.0050205  1
2012 Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, ... ... Sieving PA, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative Ophthalmology & Visual Science. 53: 8232-7. PMID 23150612 DOI: 10.1167/iovs.12-11025  1
2012 Sieving PA. NEI audacious goals initiative to catalyze innovation. Investigative Ophthalmology & Visual Science. 53: 7149-50. PMID 23047720 DOI: 10.1167/iovs.12-11069  1
2012 Ziccardi L, Vijayasarathy C, Bush RA, Sieving PA. Loss of retinoschisin (RS1) cell surface protein in maturing mouse rod photoreceptors elevates the luminance threshold for light-driven translocation of transducin but not arrestin. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 13010-21. PMID 22993419 DOI: 10.1523/JNEUROSCI.1913-12.2012  1
2012 Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. GNAT1 associated with autosomal recessive congenital stationary night blindness. Investigative Ophthalmology & Visual Science. 53: 1353-61. PMID 22190596 DOI: 10.1167/iovs.11-8026  1
2012 Vijayasarathy C, Ziccardi L, Sieving PA. Biology of retinoschisin. Advances in Experimental Medicine and Biology. 723: 513-8. PMID 22183371 DOI: 10.1007/978-1-4614-0631-0_64  1
2012 Wen R, Tao W, Li Y, Sieving PA. CNTF and retina. Progress in Retinal and Eye Research. 31: 136-51. PMID 22182585 DOI: 10.1016/j.preteyeres.2011.11.005  1
2012 Cukras CA, Wong WT, Caruso R, Cunningham D, Zein W, Sieving PA. Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 171-9. PMID 21987580 DOI: 10.1001/archophthalmol.2011.332  1
2012 Falsini B, Bush RA, Sieving PA. Neuroprotection Retina Fifth Edition. 1: 716-733. DOI: 10.1016/B978-1-4557-0737-9.00037-0  1
2011 Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA. X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Investigative Ophthalmology & Visual Science. 52: 9250-6. PMID 22039241 DOI: 10.1167/iovs.11-8115  1
2011 Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 1351-7. PMID 21987678 DOI: 10.1001/archophthalmol.2011.267  1
2011 Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Molecular Vision. 17: 1373-80. PMID 21655355  1
2011 Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. The British Journal of Ophthalmology. 95: 1019-24. PMID 21447491 DOI: 10.1136/bjo.2010.189076  1
2010 Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, ... ... Sieving PA, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. American Journal of Human Genetics. 87: 523-31. PMID 20850105 DOI: 10.1016/j.ajhg.2010.08.013  1
2010 Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Human Mutation. 31: 1251-60. PMID 20809529 DOI: 10.1002/humu.21350  1
2010 Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics. 87: 400-9. PMID 20797688 DOI: 10.1016/j.ajhg.2010.08.003  1
2010 Kotova S, Vijayasarathy C, Dimitriadis EK, Ikonomou L, Jaffe H, Sieving PA. Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry. 49: 7023-32. PMID 20677810 DOI: 10.1021/bi1007029  1
2010 Raz-Prag D, Grimes WN, Fariss RN, Vijayasarathy C, Campos MM, Bush RA, Diamond JS, Sieving PA. Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 107: 12710-5. PMID 20616020 DOI: 10.1073/pnas.0913472107  1
2010 Kjellström S, Vijayasarathy C, Ponjavic V, Sieving PA, Andréasson S. Long-term 12 year follow-up of X-linked congenital retinoschisis. Ophthalmic Genetics. 31: 114-25. PMID 20569020 DOI: 10.3109/13816810.2010.482555  1
2010 Shahzadi A, Riazuddin SA, Ali S, Li D, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. The British Journal of Ophthalmology. 94: 1094-9. PMID 20538656 DOI: 10.1136/bjo.2009.171892  1
2010 Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, et al. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. American Journal of Human Genetics. 86: 805-12. PMID 20451172 DOI: 10.1016/j.ajhg.2010.04.001  1
2010 Naz S, Riazuddin SA, Li L, Shahid M, Kousar S, Sieving PA, Hejtmancik JF, Riazuddin S. A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. American Journal of Ophthalmology. 149: 861-6. PMID 20227676 DOI: 10.1016/j.ajo.2009.12.034  1
2010 Sieving PA. At the frontier of vision research: the National Eye Institute celebrates 40 years. American Journal of Ophthalmology. 149: 179-81. PMID 20103048 DOI: 10.1016/j.ajo.2009.10.016  1
2010 Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis Human Molecular Genetics. 19: 1302-1313. PMID 20061330 DOI: 10.1093/hmg/ddq006  1
2010 Wu DM, Khanna H, Atmaca-Sonmez P, Sieving PA, Branham K, Othman M, Swaroop A, Daiger SP, Heckenlively JR. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (London, England). 24: 764-74. PMID 19893586 DOI: 10.1038/eye.2009.270  1
2009 Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA. Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Investigative Ophthalmology & Visual Science. 50: 5375-83. PMID 19474399 DOI: 10.1167/iovs.09-3839  1
2009 Haruta M, Bush RA, Kjellstrom S, Vijayasarathy C, Zeng Y, Le YZ, Sieving PA. Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function Proceedings of the National Academy of Sciences of the United States of America. 106: 9397-9402. PMID 19470639 DOI: 10.1073/pnas.0808940106  1
2009 Park TK, Wu Z, Kjellstrom S, Zeng Y, Bush RA, Sieving PA, Colosi P. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Therapy. 16: 916-26. PMID 19458650 DOI: 10.1038/gt.2009.61  1
2009 Luna G, Kjellstrom S, Verardo MR, Lewis GP, Byun J, Sieving PA, Fisher SK. The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. Investigative Ophthalmology & Visual Science. 50: 3977-84. PMID 19387072 DOI: 10.1167/iovs.08-2910  1
2009 Raz-Prag D, Zeng Y, Sieving PA, Bush RA. Photoreceptor protection by adeno-associated virus-mediated LEDGF expression in the RCS rat model of retinal degeneration: probing the mechanism. Investigative Ophthalmology & Visual Science. 50: 3897-906. PMID 19324854 DOI: 10.1167/iovs.08-3153  1
2008 Ahmed ZM, Kjellstrom S, Haywood-Watson RJ, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Molecular Vision. 14: 2227-36. PMID 19057657  1
2008 Dizhoor AM, Woodruff ML, Olshevskaya EV, Cilluffo MC, Cornwall MC, Sieving PA, Fain GL. Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 11662-72. PMID 18987202 DOI: 10.1523/JNEUROSCI.4006-08.2008  1
2008 Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush RA, Sieving PA. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Investigative Ophthalmology & Visual Science. 49: 3677-86. PMID 18660429 DOI: 10.1167/iovs.07-1071  1
2008 Brooks BP, Macdonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA. Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Archives of Ophthalmology (Chicago, Ill. : 1960). 126: 424-5. PMID 18332328 DOI: 10.1001/archopht.126.3.424  1
2008 Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Organization and molecular interactions of retinoschisin in photoreceptors. Advances in Experimental Medicine and Biology. 613: 291-7. PMID 18188957 DOI: 10.1007/978-0-387-74904-4_34  1
2008 Machida S, Raz-Prag D, Fariss RN, Sieving PA, Bush RA. Photopic ERG negative response from amacrine cell signaling in RCS rat retinal degeneration. Investigative Ophthalmology & Visual Science. 49: 442-52. PMID 18172124 DOI: 10.1167/iovs.07-0291  1
2007 MacDonald IM, Brooks BP, Sieving PA. Eyeing a new network. Science (New York, N.Y.). 318: 1068. PMID 18006726 DOI: 10.1126/science.318.5853.1068  1
2007 Woodruff ML, Olshevskaya EV, Savchenko AB, Peshenko IV, Barrett R, Bush RA, Sieving PA, Fain GL, Dizhoor AM. Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 8805-15. PMID 17699662 DOI: 10.1523/JNEUROSCI.2751-07.2007  1
2007 Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Investigative Ophthalmology & Visual Science. 48: 3864-71. PMID 17652762 DOI: 10.1167/iovs.06-1521  1
2007 Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Investigative Ophthalmology & Visual Science. 48: 3837-45. PMID 17652759 DOI: 10.1167/iovs.07-0203  1
2007 Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Hejtmancik JF. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene Human Genetics. 122: 293-299. PMID 17605048 DOI: 10.1007/s00439-007-0395-2  1
2007 MacDonald IM, Sauvé Y, Sieving PA. Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 42: 399-402. PMID 17508034 DOI: 10.3129/can j ophthalmol.i07-039  1
2007 Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Investigative Ophthalmology & Visual Science. 48: 991-1000. PMID 17325137 DOI: 10.1167/iovs.06-0915  1
2007 Sieving PA, Collins FS. Genetic ophthalmology and the era of clinical care. Jama. 297: 733-6. PMID 17315303 DOI: 10.1001/jama.297.7.733  1
2007 Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 252-8. PMID 17296903 DOI: 10.1001/archopht.125.2.252  1
2006 Wen R, Song Y, Kjellstrom S, Tanikawa A, Liu Y, Li Y, Zhao L, Bush RA, Laties AM, Sieving PA. Regulation of rod phototransduction machinery by ciliary neurotrophic factor. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 13523-30. PMID 17192435 DOI: 10.1523/JNEUROSCI.4021-06.2006  1
2006 Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Molecular Vision. 12: 1283-91. PMID 17110911  1
2006 Takada Y, Fariss RN, Muller M, Bush RA, Rushing EJ, Sieving PA. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Molecular Vision. 12: 1108-16. PMID 17093404  1
2006 Aslanukov A, Bhowmick R, Guruju M, Oswald J, Raz D, Bush RA, Sieving PA, Lu X, Bock CB, Ferreira PA. RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism. Plos Genetics. 2: e177. PMID 17069463 DOI: 10.1371/journal.pgen.0020177  1
2006 Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N, Sieving PA, Ayyagari R. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Investigative Ophthalmology & Visual Science. 47: 4558-68. PMID 17003453 DOI: 10.1167/iovs.06-0353  1
2006 Prenner JL, Capone A, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina (Philadelphia, Pa.). 26: S61-4. PMID 16946682 DOI: 10.1097/01.iae.0000244290.09499.c1  1
2006 Vijayasarathy C, Gawinowicz MA, Zeng Y, Takada Y, Bush RA, Sieving PA. Identification and characterization of two mature isoforms of retinoschisin in murine retina. Biochemical and Biophysical Research Communications. 349: 99-105. PMID 16930543 DOI: 10.1016/j.bbrc.2006.07.202  1
2006 Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N, Petrukhin K, Sieving PA. Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Investigative Ophthalmology & Visual Science. 47: 3603-11. PMID 16877435 DOI: 10.1167/iovs.05-1527  1
2006 Haywood-Watson RJ, Ahmed ZM, Kjellstrom S, Bush RA, Takada Y, Hampton LL, Battey JF, Sieving PA, Friedman TB. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Investigative Ophthalmology & Visual Science. 47: 3074-84. PMID 16799054 DOI: 10.1167/iovs.06-0108  1
2006 Alexander DF, Alving BM, Battey JF, Berg JM, Collins FS, Fauci AS, Gallin JI, Grady PA, Hodes RJ, Hrynkow SH, Insel TR, Jones JF, Katz SI, Landis SC, Li TK, ... ... Sieving PA, et al. Response to: "Rescuing the NIH before it is too late". The Journal of Clinical Investigation. 116: 1462-3. PMID 16648877 DOI: 10.1172/JCI28894  1
2006 Sieving PA, Caruso RC, Tao W, Coleman HR, Thompson DJ, Fullmer KR, Bush RA. Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants. Proceedings of the National Academy of Sciences of the United States of America. 103: 3896-901. PMID 16505355 DOI: 10.1073/pnas.0600236103  1
2005 Sieving PA. Fostering partnerships: The National Institutes of Health (NIH) Mission. Retina (Philadelphia, Pa.). 25: S84-S85. PMID 16374355  1
2005 Sieving PA. The national eye institute: translational clinical research initiatives on inherited and orphan retinal diseases: personal observations. Retina (Philadelphia, Pa.). 25: S8-S9. PMID 16374351  1
2005 Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. Molecular Vision. 11: 977-85. PMID 16319817  1
2005 Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, ... ... Sieving PA, et al. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Human Molecular Genetics. 14: 3865-75. PMID 16269441 DOI: 10.1093/HMG/DDL079  1
2005 Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Human Genetics. 118: 356-65. PMID 16189710 DOI: 10.1007/s00439-005-0054-4  1
2005 Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Molecular Vision. 11: 665-76. PMID 16163264  1
2005 Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Investigative Ophthalmology & Visual Science. 46: 3363-71. PMID 16123441 DOI: 10.1167/iovs.05-0159  1
2005 Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Investigative Ophthalmology & Visual Science. 46: 3355-62. PMID 16123440 DOI: 10.1167/iovs.05-0007  1
2005 Brzezinski JA, Brown NL, Tanikawa A, Bush RA, Sieving PA, Vitaterna MH, Takahashi JS, Glaser T. Loss of circadian photoentrainment and abnormal retinal electrophysiology in Math5 mutant mice. Investigative Ophthalmology & Visual Science. 46: 2540-51. PMID 15980246 DOI: 10.1167/iovs.04-1123  1
2005 Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Investigative Ophthalmology & Visual Science. 46: 2264-70. PMID 15980210 DOI: 10.1167/iovs.04-1280  1
2005 Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, ... ... Sieving PA, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics : Ejhg. 13: 302-8. PMID 15657609 DOI: 10.1038/sj.ejhg.5201269  1
2005 Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. Journal of Neurophysiology. 93: 481-92. PMID 15331616 DOI: 10.1152/jn.00365.2004  1
2004 Takada Y, Fariss RN, Tanikawa A, Zeng Y, Carper D, Bush R, Sieving PA. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Investigative Ophthalmology & Visual Science. 45: 3302-12. PMID 15326155 DOI: 10.1167/iovs.04-0156  1
2004 Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Investigative Ophthalmology & Visual Science. 45: 3279-85. PMID 15326152 DOI: 10.1167/iovs.04-0576  1
2004 Bush RA, Lei B, Tao W, Raz D, Chan CC, Cox TA, Santos-Muffley M, Sieving PA. Encapsulated cell-based intraocular delivery of ciliary neurotrophic factor in normal rabbit: dose-dependent effects on ERG and retinal histology. Investigative Ophthalmology & Visual Science. 45: 2420-30. PMID 15223826 DOI: 10.1167/iovs.03-1342  1
2004 Sieving PA. Healthy Vision Month--May 2004: focus is on diabetic retinopathy. Optometry (St. Louis, Mo.). 75: 271-3. PMID 15141816  0.01
2004 Insel TR, Volkow ND, Landis SC, Li TK, Battey JF, Sieving P. Limits to growth: why neuroscience needs large-scale science. Nature Neuroscience. 7: 426-7. PMID 15114352 DOI: 10.1038/nn0504-426  1
2004 McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. Investigative Ophthalmology & Visual Science. 45: 1456-63. PMID 15111602 DOI: 10.1167/iovs.03-0909  1
2004 Mandal MN, Ambasudhan R, Wong PW, Gage PJ, Sieving PA, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics. 83: 626-35. PMID 15028285 DOI: 10.1016/j.ygeno.2003.09.020  1
2004 Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 83: 615-25. PMID 15028284 DOI: 10.1016/j.ygeno.2003.10.004  1
2004 Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, et al. 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. 74: 482-94. PMID 14968411 DOI: 10.1086/382786  1
2003 Moroi SE, Lark KK, Sieving PA, Nouri-Mahdavi K, Schlötzer-Schrehardt U, Katz GJ, Ritch R. Long anterior zonules and pigment dispersion. American Journal of Ophthalmology. 136: 1176-8. PMID 14644241 DOI: 10.1016/S0002-9394(03)00657-3  1
2003 Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Human Molecular Genetics. 12: 3215-23. PMID 14570705 DOI: 10.1093/hmg/ddg358  1
2003 Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genetics. 24: 191-202. PMID 14566649 DOI: 10.1076/opge.24.4.191.17229  1
2003 Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Clinical diagnoses that overlap with choroideremia. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 38: 364-72; quiz 372. PMID 12956277  1
2003 Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proceedings of the National Academy of Sciences of the United States of America. 100: 4742-7. PMID 12671074 DOI: 10.1073/pnas.0737855100  1
2003 Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Molecular Vision. 9: 49-51. PMID 12592226  1
2003 Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. 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. 9: 14-7. PMID 12552256  1
2002 Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 80: 166-71. PMID 12160730 DOI: 10.1006/geno.2002.6815  1
2002 Kondo M, Sieving PA. Post-photoreceptoral activity dominates primate photopic 32-Hz ERG for sine-, square-, and pulsed stimuli. Investigative Ophthalmology & Visual Science. 43: 2500-7. PMID 12091456  1
2002 Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, ... ... Sieving PA, et al. 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. 70: 1545-54. PMID 11992260 DOI: 10.1086/340848  1
2002 Traverso V, Bush RA, Sieving PA, Deretic D. Retinal cAMP levels during the progression of retinal degeneration in rhodopsin P23H and S334ter transgenic rats. Investigative Ophthalmology & Visual Science. 43: 1655-61. PMID 11980887  1
2002 Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA. Clinical course and visual function in a family with mutations in the RPE65 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 120: 55-61. PMID 11786058  1
2001 Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, ... ... Sieving PA, et al. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genetics. 22: 233-9. PMID 11803489 DOI: 10.1076/opge.22.4.233.2219  1
2001 Khan NW, Jamison JA, Kemp JA, Sieving PA. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Research. 41: 3931-42. PMID 11738458 DOI: 10.1016/S0042-6989(01)00188-2  1
2001 Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A. Nrl is required for rod photoreceptor development Nature Genetics. 29: 447-452. PMID 11694879 DOI: 10.1038/ng774  1
2001 Jamison JA, Bush RA, Lei B, Sieving PA. Characterization of the rod photoresponse isolated from the dark-adapted primate ERG. Visual Neuroscience. 18: 445-55. PMID 11497421 DOI: 10.1017/S0952523801183112  1
2001 Humphries MM, Kiang S, McNally N, Donovan MA, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar J, Humphries P, Kenna P. Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background. Visual Neuroscience. 18: 437-43. PMID 11497420 DOI: 10.1017/S0952523801183100  1
2001 Sieving PA, Fowler ML, Bush RA, Machida S, Calvert PD, Green DG, Makino CL, McHenry CL. Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 5449-60. PMID 11466416  1
2001 Sieving PA. Fifteen years of work: The COMS outcomes for medium-sized choroidal melanoma Archives of Ophthalmology. 119: 1067-1068. PMID 11448330  1
2001 Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nature Genetics. 28: 123-4. PMID 11381255 DOI: 10.1038/88828  1
2001 Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Proceedings of the National Academy of Sciences of the United States of America. 98: 1835-40. PMID 11172037 DOI: 10.1073/pnas.041606498  1
2001 Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics. 27: 89-93. PMID 11138005 DOI: 10.1038/83817  1
2000 Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA. Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Human Genetics. 107: 75-82. PMID 10982039 DOI: 10.1007/s004390050014  1
2000 Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. American Journal of Human Genetics. 67: 1000-3. PMID 10970770 DOI: 10.1086/303091  1
2000 Machida S, Kondo M, Jamison JA, Khan NW, Kononen LT, Sugawara T, Bush RA, Sieving PA. P23H rhodopsin transgenic rat: correlation of retinal function with histopathology. Investigative Ophthalmology & Visual Science. 41: 3200-9. PMID 10967084  1
2000 Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Human Molecular Genetics. 9: 2107-16. PMID 10958649 DOI: 10.1093/hmg/9.14.2107  1
2000 Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, Ehinger B, Sieving PA. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 1098-104. PMID 10922205  1
2000 Sugawara T, Sieving PA, Bush RA. Quantitative relationship of the scotopic and photopic ERG to photoreceptor cell loss in light damaged rats Experimental Eye Research. 70: 693-705. PMID 10870528 DOI: 10.1006/exer.2000.0842  1
2000 Hrach CJ, Johnson MW, Hassan AS, Lei B, Sieving PA, Elner VM. Retinal toxicity of commercial intravitreal tissue plasminogen activator solution in cat eyes Archives of Ophthalmology. 118: 659-663. PMID 10815158  1
2000 Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 85-92. PMID 10636420  1
1999 Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Human Mutation. 14: 423-7. PMID 10533068 DOI: 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D  1
1999 Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave American Journal of Ophthalmology. 128: 179-184. PMID 10458173 DOI: 10.1016/S0002-9394(99)00144-0  1
1999 Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genetics. 20: 37-43. PMID 10415464  1
1999 McNally N, Kenna P, Humphries MM, Hobson AH, Khan NW, Bush RA, Sieving PA, Humphries P, Farrar GJ. Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene Human Molecular Genetics. 8: 1309-1312. PMID 10369877 DOI: 10.1093/hmg/8.7.1309  1
1999 Toda K, Bush RA, Humphries P, Sieving PA. The electroretinogram of the rhodopsin knockout mouse Visual Neuroscience. 16: 391-398. PMID 10367972 DOI: 10.1017/S0952523899162187  1
1999 Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 58: 98-101. PMID 10331951 DOI: 10.1006/geno.1999.5808  1
1999 Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. American Journal of Human Genetics. 64: 897-900. PMID 10053026 DOI: 10.1086/302298  1
1999 Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Human Molecular Genetics. 8: 299-305. PMID 9931337 DOI: 10.1093/hmg/8.2.299  1
1998 Den Dunnen JT, Kraayenbrink T, Van Schooneveld M, Van Vosse ED, De Jong PTVM, Ten Brink JB, Schuurman E, Tijmes N, Van Ommen GJB, Bergen AAB, Andolfi G, Montini E, Li Y, Oudet C, Bolz H, ... ... Sieving PA, et al. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) Human Molecular Genetics. 7: 1185-1192. PMID 9618178 DOI: 10.1093/hmg/7.7.1185  1
1998 Innis JW, Sieving PA, McMillan P, Weatherly RA. Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth. American Journal of Medical Genetics. 75: 13-7. PMID 9450850 DOI: 10.1002/(SICI)1096-8628(19980106)75:1<13::AID-AJMG4>3.0.CO;2-R  1
1997 Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 19: 1329-36. PMID 9427255 DOI: 10.1016/S0896-6273(00)80423-7  1
1997 Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andréasson S, Bennett J, Birch DG, Fishman GA, Hoffman DR, Inana G, Jacobson SG, Musarella MA, Sieving PA, Swaroop A. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. American Journal of Human Genetics. 61: 1287-92. PMID 9399904 DOI: 10.1086/301646  1
1997 Kim SH, Bush RA, Sieving PA. Increased phase lag of the fundamental harmonic component of the 30 Hz flicker ERG in Schubert-Bornschein complete type CSNB Vision Research. 37: 2471-2475. PMID 9381682 DOI: 10.1016/S0042-6989(97)00035-7  1
1997 Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A. Human bZIP transcription factor gene NRL: Structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration Genomics. 45: 395-401. PMID 9344665 DOI: 10.1006/geno.1997.4964  1
1997 Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A. 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. 61: 571-580. PMID 9326322 DOI: 10.1086/515523  1
1997 Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR, Humphries P. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nature Genetics. 15: 216-9. PMID 9020854 DOI: 10.1038/ng0297-216  1
1996 Pawar H, Bingham EL, Hiriyanna K, Segal M, Richards JE, Sieving PA. X-linked juvenile retinoschisis: Localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC Human Heredity. 46: 329-335. PMID 8956029  1
1996 Naarendorp F, Rice KS, Sieving PA. Summation of rod and S cone signals at threshold in human observers Vision Research. 36: 2681-2688. PMID 8917755 DOI: 10.1016/0042-6989(96)00023-5  1
1996 Hou YC, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA. Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family Human Heredity. 46: 211-220. PMID 8807324  1
1996 Bush RA, Sieving PA. Inner retinal contributions to the primate photopic fast flicker electroretinogram Journal of the Optical Society of America a: Optics and Image Science, and Vision. 13: 557-565. PMID 8627412  1
1995 Sieving PA. Diagnostic issues with inherited retinal and macular dystrophies Seminars in Ophthalmology. 10: 279-294. PMID 10160215 DOI: 10.3109/08820539509063799  1
1995 Frishman LJ, Sieving PA. Evidence for two sites of adaptation affecting the dark-adapted ERG of cats and primates. Vision Research. 35: 435-42. PMID 7892737 DOI: 10.1016/0042-6989(94)00165-I  1
1995 Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. Proceedings of the National Academy of Sciences of the United States of America. 92: 880-4. PMID 7846071 DOI: 10.1073/pnas.92.3.880  1
1995 Richards JE, Scott KM, Sieving PA. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa Ophthalmology. 102: 669-677. PMID 7724183  1
1995 Pawar H, Bingham EL, Lunetta KL, Segal M, Richards JE, Boehnke M, Sieving PA. Refined genetic mapping of juvenile X-linked retinoschisis Human Heredity. 45: 206-210. PMID 7558052  1
1994 Sieving PA, Murayama K, Naarendorp F. Push-pull model of the primate photopic electroretinogram: A role for hyperpolarizing neurons in shaping the b-wave Visual Neuroscience. 11: 519-532. PMID 8038126 DOI: 10.1017/S0952523800002431  1
1994 Yan D, Wong D, Zheng K, Thiselton D, Fujita R, Sieving PA, Bhattacharya SS, Yang-feng TL, Richards JE, Swaroop A. Dinucleotide repeat polymorphism at the DXS977 locus Human Molecular Genetics. 3: 1030. PMID 7951222 DOI: 10.1093/hmg/3.6.1030  1
1993 Geller AM, Sieving PA. Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task Vision Research. 33: 1509-1524. PMID 8351823 DOI: 10.1016/0042-6989(93)90144-L  1
1993 Naarendorp F, Hitchcock PF, Sieving PA. Dopaminergic modulation of rod pathway signals does not affect the scotopic ERG of cat at dark-adapted threshold Journal of Neurophysiology. 70: 1681-1691. PMID 8283223  1
1992 Geller AM, Sieving PA, Green DG. Effect on grating identification of sampling with degenerate arrays Journal of the Optical Society of America a: Optics and Image Science, and Vision. 9: 472-477. PMID 1548555 DOI: 10.1364/JOSAA.9.000472  1
1991 Naarendorp F, Sieving PA. The scotopic threshold response of the cat erg is suppressed selectively by GABA and glycine Vision Research. 31: 1-15. PMID 2006543 DOI: 10.1016/0042-6989(91)90068-G  1
1991 Sneed SR, Sieving PA. Fenestrated sheen macular dystrophy American Journal of Ophthalmology. 112: 1-7. PMID 1882912  1
1991 Arrindell EL, Trobe JD, Sieving PA, Barnett JL. Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease Archives of Ophthalmology. 109: 373-378. PMID 1848426 DOI: 10.1001/archopht.1991.01080030075043  1
1991 Richards JE, Kuo CY, Boehnke M, Sieving PA. Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa Ophthalmology. 98: 1797-1805. PMID 1775313  1
1991 Steinberg RH, Frishman LJ, Sieving PA. Chapter 6 Negative components of the electroretinogram from proximal retina and photoreceptor Progress in Retinal Research. 10: 121-160. DOI: 10.1016/0278-4327(91)90011-P  1
1990 Rowe SE, Trobe JD, Sieving PA. Idiopathic photoreceptor dysfunction causes unexplained visual acuity loss in later adulthood. Ophthalmology. 97: 1632-7. PMID 2087294  1
1988 Frishman LJ, Sieving PA, Steinberg RH. Contributions to the electroretinogram of currents originating in proximal retina. Visual Neuroscience. 1: 307-15. PMID 3154802 DOI: 10.1017/S0952523800001966  1
1987 Sieving PA, Steinberg RH. Proximal retinal contribution to the intraretinal 8-Hz pattern ERG of cat. Journal of Neurophysiology. 57: 104-20. PMID 3559667 DOI: 10.1152/jn.1987.57.1.104  1
1986 Sieving PA, Niffenegger JH, Berson EL. Electroretinographic findings in selected pedigrees with choroideremia. American Journal of Ophthalmology. 101: 361-7. PMID 3953730 DOI: 10.1016/0002-9394(86)90832-9  1
1986 Sieving PA, Frishman LJ, Steinberg RH. Scotopic threshold response of proximal retina in cat. Journal of Neurophysiology. 56: 1049-61. PMID 3783228 DOI: 10.1152/jn.1986.56.4.1049  1
1986 Sieving PA, Frishman LJ, Steinberg RH. M-wave of proximal retina in cat. Journal of Neurophysiology. 56: 1039-48. PMID 3783227 DOI: 10.1152/jn.1986.56.4.1039  1
1985 Sieving PA, Steinberg RH. Contribution from proximal retina to intraretinal pattern ERG: the M-wave. Investigative Ophthalmology & Visual Science. 26: 1642-7. PMID 4055298  1
1983 Sieving PA, Fishman GA, Alexander KR, Goldberg MF. Early receptor potential measurements in human ocular siderosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 101: 1716-20. PMID 6639427 DOI: 10.1001/archopht.1983.01040020718010  1
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