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Anand Swaroop - Publications

Affiliations: 
University of Michigan, Ann Arbor, Ann Arbor, MI 
Area:
Genetics, Molecular Biology, Biostatistics Biology
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318 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
2024 Srivastava D, Gowribidanur-Chinnaswamy P, Gaur P, Spies M, Swaroop A, Artemyev NO. Molecular basis of CRX/DNA recognition and stoichiometry at the Ret4 response element. Structure (London, England : 1993). PMID 39084215 DOI: 10.1016/j.str.2024.07.004  0.364
2024 Hamel AR, Yan W, Rouhana JM, Monovarfeshani A, Jiang X, Mehta PA, Advani J, Luo Y, Liang Q, Rajasundaram S, Shrivastava A, Duchinski K, Mantena S, Wang J, van Zyl T, ... ... Swaroop A, et al. Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nature Communications. 15: 396. PMID 38195602 DOI: 10.1038/s41467-023-44380-y  0.348
2023 Qu Z, Batz Z, Singh N, Marchal C, Swaroop A. Stage-specific dynamic reorganization of genome topology shapes transcriptional neighborhoods in developing human retinal organoids. Cell Reports. 42: 113543. PMID 38048222 DOI: 10.1016/j.celrep.2023.113543  0.384
2023 Kruczek K, Swaroop A. Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies. Current Topics in Developmental Biology. 155: 127-163. PMID 38043950 DOI: 10.1016/bs.ctdb.2023.09.003  0.304
2023 Tworak A, Kolesnikov AV, Hong JD, Choi EH, Luu JC, Palczewska G, Dong Z, Lewandowski D, Brooks MJ, Campello L, Swaroop A, Kiser PD, Kefalov VJ, Palczewski K. Rapid RGR-dependent visual pigment recycling is mediated by the RPE and specialized Müller glia. Cell Reports. 42: 112982. PMID 37585292 DOI: 10.1016/j.celrep.2023.112982  0.347
2023 Farre AA, Sun C, Starostik MR, Hunter SS, English MA, Duncan A, Santhanam A, Shihabeddin E, O'Brien J, Swaroop A, Stenkamp DL. Long wavelength-sensing cones of zebrafish retina exhibit multiple layers of transcriptional heterogeneity. Frontiers in Cellular Neuroscience. 17: 1214084. PMID 37519633 DOI: 10.3389/fncel.2023.1214084  0.353
2023 Mondal AK, Swaroop A. Network Biology and Medicine to Rescue: Applications for Retinal Disease Mechanisms and Therapy. Advances in Experimental Medicine and Biology. 1415: 165-171. PMID 37440030 DOI: 10.1007/978-3-031-27681-1_25  0.33
2023 Chen HY, Swaroop M, Papal S, Mondal A, Song HB, Campello L, Tawa G, Regent F, Shimada H, Nagashima K, de Val N, Jacobson SG, Zheng W, Swaroop A. Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects. Elife. 12. PMID 36975211 DOI: 10.7554/eLife.83205  0.374
2022 Liang X, Yadav SP, Batz ZA, Nellissery J, Swaroop A. Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina. Human Molecular Genetics. PMID 36226585 DOI: 10.1093/hmg/ddac256  0.373
2022 Marchal C, Singh N, Batz Z, Advani J, Jaeger C, Corso-Díaz X, Swaroop A. High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci. Nature Communications. 13: 5827. PMID 36207300 DOI: 10.1038/s41467-022-33427-1  0.357
2022 Kruczek K, Qu Z, Welby E, Shimada H, Hiriyanna S, English MA, Zein WM, Brooks BP, Swaroop A. In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells. Stem Cell Reports. PMID 36084637 DOI: 10.1016/j.stemcr.2022.08.006  0.392
2022 Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, ... ... Swaroop A, et al. Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. Human Molecular Genetics. PMID 35997788 DOI: 10.1093/hmg/ddac211  0.36
2022 Liang X, Brooks MJ, Swaroop A. Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retina. Human Molecular Genetics. PMID 35776116 DOI: 10.1093/hmg/ddac143  0.34
2022 Jiang K, Mondal AK, Adlakha YK, Gumerson J, Aponte A, Gieser L, Kim JW, Boleda A, Brooks MJ, Nellissery J, Fox DA, Balaban R, Covian R, Swaroop A. Multi-omics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration. Human Molecular Genetics. PMID 35075486 DOI: 10.1093/hmg/ddac013  0.313
2021 Beryozkin A, Aweidah H, Carrero Valenzuela RD, Berman M, Iguzquiza O, Cremers FPM, Khan MI, Swaroop A, Amer R, Khateb S, Ben-Yosef T, Sharon D, Banin E. Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients. Frontiers in Cell and Developmental Biology. 9: 746781. PMID 34722527 DOI: 10.3389/fcell.2021.746781  0.351
2021 Kisseleff E, Vigouroux RJ, Hottin C, Lourdel S, Thomas L, Shah P, Chédotal A, Perron M, Swaroop A, Roger JE. Glycogen Synthase Kinase 3 regulates the genesis of displaced retinal ganglion cells. Eneuro. PMID 34518365 DOI: 10.1523/ENEURO.0171-21.2021  0.369
2021 Ratnapriya R, Jacobson SG, Cideciyan AV, English MA, Roman AJ, Sumaroka A, Sheplock R, Swaroop A. A Novel Gene Mutation Associated With Autosomal Dominant Retinal Degeneration. Frontiers in Cell and Developmental Biology. 9: 720782. PMID 34485303 DOI: 10.3389/fcell.2021.720782  0.39
2021 Singh N, Swaroop A, Ratnapriya R. Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration. Advances in Experimental Medicine and Biology. 1256: 201-219. PMID 33848003 DOI: 10.1007/978-3-030-66014-7_8  0.328
2021 Kruczek K, Qu Z, Gentry J, Fadl BR, Gieser L, Hiriyanna S, Batz Z, Samant M, Samanta A, Chu CJ, Campello L, Brooks BP, Wu Z, Swaroop A. Gene therapy of dominant CRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids. Stem Cell Reports. PMID 33513359 DOI: 10.1016/j.stemcr.2020.12.018  0.435
2020 Hargrove-Grimes P, Mondal AK, Gumerson J, Nellissery J, Aponte AM, Gieser L, Qian H, Fariss RN, Bonifacino JS, Li T, Swaroop A. Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration. Plos Genetics. 16: e1009259. PMID 33362196 DOI: 10.1371/journal.pgen.1009259  0.411
2020 Jiang K, Fairless E, Kanda A, Gotoh N, Cogliati T, Li T, Swaroop A. Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration. Investigative Ophthalmology & Visual Science. 61: 25. PMID 33107904 DOI: 10.1167/iovs.61.12.25  0.304
2020 Strunz T, Kiel C, Grassmann F, Ratnapriya R, Kwicklis M, Karlstetter M, Fauser S, Arend N, Swaroop A, Langmann T, Wolf A, Weber BHF. A mega-analysis of expression quantitative trait loci in retinal tissue. Plos Genetics. 16: e1008934. PMID 32870927 DOI: 10.1371/Journal.Pgen.1008934  0.454
2020 Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL. Dietary nutrient intake and progression to late age-related macular degeneration in the Age-Related Eye Disease Studies 1 and 2. Ophthalmology. PMID 32858063 DOI: 10.1016/J.Ophtha.2020.08.018  0.322
2020 Chen HY, Kelley RA, Li T, Swaroop A. Primary cilia biogenesis and associated retinal ciliopathies. Seminars in Cell & Developmental Biology. PMID 32747192 DOI: 10.1016/J.Semcdb.2020.07.013  0.428
2020 Phelan MA, Kruczek K, Wilson JP, Brooks MJ, Drinnan CT, Regent F, Gerstenhaber JA, Swaroop A, Lelkes PI, Li T. Soy protein nanofiber scaffolds for uniform maturation of hiPSC-derived retinal pigment epithelium. Tissue Engineering. Part C, Methods. PMID 32635833 DOI: 10.1089/Ten.Tec.2020.0072  0.36
2020 Wang L, Kaya KD, Kim S, Brooks MJ, Wang J, Xin Y, Qian J, Swaroop A, Handa JT. Retinal pigment epithelium transcriptome analysis in chronic smoking reveals a suppressed innate immune response and activation of differentiation pathways. Free Radical Biology & Medicine. PMID 32634473 DOI: 10.1016/J.Freeradbiomed.2020.06.004  0.306
2020 Kruczek K, Swaroop A. Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies. Stem Cells (Dayton, Ohio). PMID 32506758 DOI: 10.1002/Stem.3239  0.427
2020 Mahato B, Kaya KD, Fan Y, Sumien N, Shetty RA, Zhang W, Davis D, Mock T, Batabyal S, Ni A, Mohanty S, Han Z, Farjo R, Forster MJ, Swaroop A, et al. Pharmacologic fibroblast reprogramming into photoreceptors restores vision. Nature. 581: 83-88. PMID 32376950 DOI: 10.1038/S41586-020-2201-4  0.744
2020 Keenan TD, Agrón E, Mares J, Clemons TE, van Asten F, Swaroop A, Chew EY. Adherence to the Mediterranean diet and progression to late age-related macular degeneration in the Age-Related Eye Disease Studies 1 and 2. Ophthalmology. PMID 32348832 DOI: 10.1016/J.Ophtha.2020.04.030  0.331
2020 Corso-Díaz X, Gentry J, Rebernick R, Jaeger C, Brooks MJ, van Asten F, Kooragayala K, Gieser L, Nellissery J, Covian R, Cogliati T, Mondal AK, Jiang K, Swaroop A. Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism. Cell Reports. 31: 107525. PMID 32320661 DOI: 10.1016/J.Celrep.2020.107525  0.316
2020 Yan Q, Weeks DE, Xin H, Swaroop A, Chew EY, Huang H, Ding Y, Chen W. Deep-learning-based Prediction of Late Age-Related Macular Degeneration Progression. Nature Machine Intelligence. 2: 141-150. PMID 32285025 DOI: 10.1038/S42256-020-0154-9  0.315
2020 Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, ... ... Swaroop A, et al. Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Human Molecular Genetics. PMID 32246154 DOI: 10.1093/Hmg/Ddaa057  0.416
2020 Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. Scientific Reports. 10: 5426. PMID 32214115 DOI: 10.1038/S41598-020-62047-2  0.472
2020 Sandkam BA, Campello L, O'Brien C, Nandamuri SP, Gammerdinger W, Conte M, Swaroop A, Carleton KL. Tbx2a modulates switching of RH2 and LWS opsin gene expression. Molecular Biology and Evolution. PMID 32191319 DOI: 10.1093/Molbev/Msaa062  0.36
2019 Esquerdo-Barragán M, Brooks MJ, Toulis V, Swaroop A, Marfany G. Expression of deubiquitinating enzyme genes in the developing mammal retina. Molecular Vision. 25: 800-813. PMID 31819342  0.437
2019 Chen HY, Welby E, Li T, Swaroop A. Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Translational Science of Rare Diseases. 4: 97-115. PMID 31763178 DOI: 10.3233/TRD-190038  0.371
2019 Zelinger L, Swaroop A. SSBP1 faux pas in mitonuclear tango causes optic neuropathy. The Journal of Clinical Investigation. PMID 31738184 DOI: 10.1172/Jci132532  0.321
2019 Brooks MJ, Chen HY, Kelley RA, Mondal AK, Nagashima K, De Val N, Li T, Chaitankar V, Swaroop A. Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo. Stem Cell Reports. PMID 31631019 DOI: 10.1016/J.Stemcr.2019.09.009  0.484
2019 van Asten F, Chiu CY, Agrón E, Clemons TE, Ratnapriya R, Swaroop A, Klein ML, Fan R, Chew EY. No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18. Ophthalmology. PMID 31358387 DOI: 10.1016/J.Ophtha.2019.06.004  0.32
2019 Grassmann F, Harsch S, Brandl C, Kiel C, Nürnberg P, Toliat MR, Fleckenstein M, Pfau M, Schmitz-Valckenberg S, Holz FG, Chew EY, Swaroop A, Ratnapriya R, Klein ML, Mulyukov Z, et al. Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. Jama Ophthalmology. PMID 31120506 DOI: 10.1001/Jamaophthalmol.2019.1318  0.343
2019 Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, ... ... Swaroop A, et al. Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nature Genetics. PMID 31068672 DOI: 10.1038/S41588-019-0430-Y  0.361
2019 Orlov NV, Coletta C, van Asten F, Qian Y, Ding J, AlGhatrif M, Lakatta E, Chew E, Wong W, Swaroop A, Fiorillo E, Delitala A, Marongiu M, Goldberg IG, Schlessinger D. Age-related changes of the retinal microvasculature. Plos One. 14: e0215916. PMID 31048908 DOI: 10.1371/Journal.Pone.0215916  0.357
2019 Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, Chowers I, Banin E, Sharon D, Khateb S. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta Ophthalmologica. PMID 30925032 DOI: 10.1111/Aos.14095  0.381
2019 Ratnapriya R, Sosina OA, Starostik MR, Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser L, Pietraszkiewicz A, Montezuma SR, Chew EY, Battle A, Abecasis GR, Ferrington DA, ... ... Swaroop A, et al. Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration. Nature Genetics. PMID 30742112 DOI: 10.1038/S41588-019-0351-9  0.474
2018 Campla CK, Mast H, Dong L, Lei J, Halford S, Sekaran S, Swaroop A. Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors. Human Molecular Genetics. PMID 30445545 DOI: 10.1093/Hmg/Ddy388  0.464
2018 Mookherjee S, Chen HY, Isgrig K, Yu W, Hiriyanna S, Levron R, Li T, Colosi P, Chien W, Swaroop A, Wu Z. A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration. Cell Reports. 25: 611-623.e6. PMID 30332642 DOI: 10.1016/J.Celrep.2018.09.043  0.432
2018 Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Human Molecular Genetics. PMID 30285110 DOI: 10.1093/hmg/ddy342  0.342
2018 Papal S, Monti CE, Tennison ME, Swaroop A. Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins. Journal of Neuroscience Research. PMID 30260491 DOI: 10.1002/Jnr.24329  0.505
2018 Assawachananont J, Kim SY, Kaya KD, Fariss R, Roger JE, Swaroop A. Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina. Human Molecular Genetics. PMID 30084954 DOI: 10.1093/Hmg/Ddy272  0.488
2018 Keenan TD, Agrón E, Domalpally A, Clemons TE, van Asten F, Wong WT, Danis RG, Sadda S, Rosenfeld PJ, Klein ML, Ratnapriya R, Swaroop A, Ferris FL, Chew EY. Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16. Ophthalmology. PMID 30060980 DOI: 10.1016/J.Ophtha.2018.05.028  0.336
2018 Swaroop M, Brooks MJ, Gieser L, Swaroop A, Zheng W. Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of Mucopolysaccharidosis I. Human Molecular Genetics. PMID 30052969 DOI: 10.1093/Hmg/Ddy259  0.37
2018 Adlakha YK, Swaroop A. Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease. Methods in Molecular Biology (Clifton, N.J.). 1753: 167-177. PMID 29564788 DOI: 10.1007/978-1-4939-7720-8_11  0.408
2018 Corso-Díaz X, Jaeger C, Chaitankar V, Swaroop A. Epigenetic control of gene regulation during development and disease: A view from the retina. Progress in Retinal and Eye Research. PMID 29544768 DOI: 10.1016/J.Preteyeres.2018.03.002  0.401
2018 Zelinger L, Swaroop A. RNA Biology in Retinal Development and Disease. Trends in Genetics : Tig. PMID 29395379 DOI: 10.1016/J.Tig.2018.01.002  0.335
2018 Yan Q, Ding Y, Liu Y, Sun T, Fritsche LG, Clemons T, Ratnapriya R, Klein ML, Cook RJ, Liu Y, Fan R, Wei L, Abecasis GR, Swaroop A, Chew EY, et al. Genome-wide Analysis of Disease Progression in Age-related Macular Degeneration. Human Molecular Genetics. PMID 29346644 DOI: 10.1093/Hmg/Ddy002  0.34
2017 DiStefano T, Chen HY, Panebianco C, Kaya KD, Brooks MJ, Gieser L, Morgan NY, Pohida T, Swaroop A. Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors. Stem Cell Reports. PMID 29233554 DOI: 10.1016/J.Stemcr.2017.11.001  0.396
2017 Hoshino A, Ratnapriya R, Brooks MJ, Chaitankar V, Wilken MS, Zhang C, Starostik MR, Gieser L, La Torre A, Nishio M, Bates O, Walton A, Bermingham-McDonogh O, Glass IA, Wong ROL, ... Swaroop A, et al. Molecular Anatomy of the Developing Human Retina. Developmental Cell. PMID 29233477 DOI: 10.1016/J.Devcel.2017.10.029  0.448
2017 Pietraszkiewicz A, van Asten F, Kwong A, Ratnapriya R, Abecasis G, Swaroop A, Chew EY. Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration. Ophthalmology. PMID 29224928 DOI: 10.1016/J.Ophtha.2017.10.027  0.337
2017 van Asten F, Simmons M, Singhal A, Keenan TD, Ratnapriya R, Agrón E, Clemons TE, Swaroop A, Lu Z, Chew EY. A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14. Ophthalmology. PMID 29096998 DOI: 10.1016/J.Ophtha.2017.09.023  0.362
2017 Zelinger L, Karakülah G, Chaitankar V, Kim JW, Yang HJ, Brooks MJ, Swaroop A. Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL. Investigative Ophthalmology & Visual Science. 58: 4422-4435. PMID 28863214 DOI: 10.1167/Iovs.17-21805  0.426
2017 McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes. 8. PMID 28704921 DOI: 10.3390/Genes8070178  0.499
2017 Shimada H, Lu Q, Insinna-Kettenhofen C, Nagashima K, English MA, Semler EM, Mahgerefteh J, Cideciyan AV, Li T, Brooks BP, Gunay-Aygun M, Jacobson SG, Cogliati T, Westlake CJ, Swaroop A. In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. Cell Reports. 20: 384-396. PMID 28700940 DOI: 10.1016/J.Celrep.2017.06.045  0.376
2017 Campla CK, Breit H, Dong L, Gumerson JD, Roger JE, Swaroop A. Pias3 is necessary for dorso-ventral patterning and visual response of retinal cones but is not required for rod photoreceptor differentiation. Biology Open. PMID 28495965 DOI: 10.1242/Bio.024679  0.505
2017 Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, ... ... Swaroop A, et al. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. PMID 28412069 DOI: 10.1016/J.Ophtha.2017.03.010  0.478
2017 Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang XF, Qu J, Lu F, Cideciyan AV, Li T, ... ... Swaroop A, et al. REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. Human Molecular Genetics. PMID 28369466 DOI: 10.1093/Hmg/Ddx111  0.46
2017 Ding Y, Liu Y, Yan Q, Fritsche LG, Cook RJ, Clemons T, Ratnapriya R, Klein ML, Abecasis GR, Swaroop A, Chew EY, Weeks DE, Chen W. Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores. Genetics. PMID 28341650 DOI: 10.1534/Genetics.116.196998  0.332
2017 Yu W, Mookherjee S, Chaitankar V, Hiriyanna S, Kim JW, Brooks M, Ataeijannati Y, Sun X, Dong L, Li T, Swaroop A, Wu Z. Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice. Nature Communications. 8: 14716. PMID 28291770 DOI: 10.1038/Ncomms14716  0.512
2016 Roberts L, Ratnapriya R, du Plessis M, Chaitankar V, Ramesar RS, Swaroop A. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Investigative Ophthalmology & Visual Science. 57: 6374-6381. PMID 27898983 DOI: 10.1167/Iovs.16-19785  0.454
2016 Kim JW, Yang HJ, Brooks MJ, Zelinger L, Karakülah G, Gotoh N, Boleda A, Gieser L, Giuste F, Whitaker DT, Walton A, Villasmil R, Barb JJ, Munson PJ, Kaya KD, ... ... Swaroop A, et al. NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors. Cell Reports. 17: 2460-2473. PMID 27880916 DOI: 10.1016/J.Celrep.2016.10.074  0.43
2016 Chen Y, Brooks MJ, Gieser L, Swaroop A, Palczewski K. Transcriptome Profiling of NIH3T3 Cell Lines Expressing Opsin and the P23H Opsin Mutant Identifies Candidate Drugs for the Treatment of Retinitis Pigmentosa. Pharmacological Research. PMID 27838510 DOI: 10.1016/J.Phrs.2016.10.031  0.484
2016 Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet Non-Random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration. Human Molecular Genetics. PMID 27798110 DOI: 10.1093/Hmg/Ddw361  0.527
2016 Sifuentes CJ, Kim JW, Swaroop A, Raymond PA. Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish. Investigative Ophthalmology & Visual Science. 57: 5148-5160. PMID 27699411 DOI: 10.1167/Iovs.16-19973  0.431
2016 Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. American Journal of Human Genetics. 99: 777-84. PMID 27588452 DOI: 10.1016/J.Ajhg.2016.07.010  0.501
2016 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... Swaroop A, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/Ng.3643  0.416
2016 Chen Y, Palczewska G, Masuho I, Gao S, Jin H, Dong Z, Gieser L, Brooks MJ, Kiser PD, Kern TS, Martemyanov KA, Swaroop A, Palczewski K. Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration. Science Signaling. 9: ra74. PMID 27460988 DOI: 10.1126/Scisignal.Aag0245  0.408
2016 Kim JW, Yang HJ, Oel AP, Brooks MJ, Jia L, Plachetzki DC, Li W, Allison WT, Swaroop A. Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones during the Evolution of Nocturnal Vision in Mammals. Developmental Cell. 37: 520-532. PMID 27326930 DOI: 10.1016/J.Devcel.2016.05.023  0.444
2016 Chaitankar V, Karakülah G, Ratnapriya R, Giuste FO, Brooks MJ, Swaroop A. Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. Progress in Retinal and Eye Research. PMID 27297499 DOI: 10.1016/J.Preteyeres.2016.06.001  0.369
2016 Sun X, Park JH, Gumerson J, Wu Z, Swaroop A, Qian H, Roll-Mecak A, Li T. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proceedings of the National Academy of Sciences of the United States of America. PMID 27162334 DOI: 10.1073/Pnas.1523201113  0.535
2016 Kaewkhaw R, Swaroop M, Homma K, Nakamura J, Brooks M, Kaya KD, Chaitankar V, Michael S, Tawa G, Zou J, Rao M, Zheng W, Cogliati T, Swaroop A. Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines. Investigative Ophthalmology & Visual Science. 57: ORSFl1-ORSFl11. PMID 27116668 DOI: 10.1167/Iovs.15-17639  0.435
2016 Yadav SP, Sharma NK, Liu C, Dong L, Li T, Swaroop A. Centrosomal protein CP110 controls maturation of mother centriole during cilia biogenesis. Development (Cambridge, England). PMID 26965371 DOI: 10.1242/Dev.130120  0.324
2016 Beryozkin A, Levy G, Blumenfeld A, Meyer S, Namburi P, Morad Y, Gradstein L, Swaroop A, Banin E, Sharon D. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. Investigative Ophthalmology & Visual Science. 57: 940-7. PMID 26962691 DOI: 10.1167/Iovs.15-18702  0.504
2016 Mishra B, Swaroop A, Kandpal RP. Genetic components in diabetic retinopathy. Indian Journal of Ophthalmology. 64: 55-61. PMID 26953025 DOI: 10.4103/0301-4738.178153  0.33
2016 Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA, Li T, Waskiewicz A, Brooks BP, ... ... Swaroop A, et al. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Human Molecular Genetics. PMID 26908622 DOI: 10.1093/Hmg/Ddw020  0.413
2016 Ferrington DA, Kapphahn RJ, Leary MM, Atilano SR, Terluk MR, Karunadharma P, Chen GK, Ratnapriya R, Swaroop A, Montezuma SR, Kenney MC. Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration. Experimental Eye Research. 145: 269-277. PMID 26854823 DOI: 10.1016/J.Exer.2016.01.018  0.376
2016 Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, ... ... Swaroop A, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature Genetics. 48: 134-43. PMID 26691988 DOI: 10.1038/Ng.3448  0.355
2016 Yu W, Mookherjee S, Kim J, Hiriyanna S, Ataeijannati Y, Sun X, Dong L, Li T, Swaroop A, Wu Z. 266. In Vivo Rod Photoreceptor Reprogramming Using AAV-Delivered CRISPR/Cas9 Rescues Retinal Degeneration Molecular Therapy. 24: S105-S106. DOI: 10.1016/S1525-0016(16)33075-1  0.553
2015 Kooragayala K, Gotoh N, Cogliati T, Nellissery J, Kaden TR, French S, Balaban R, Li W, Covian R, Swaroop A. Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria. Investigative Ophthalmology & Visual Science. 56: 8428-8436. PMID 26747773 DOI: 10.1167/Iovs.15-17901  0.351
2015 Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, Qian H, Li T, Khanna H, Colosi P, Swaroop A, Wu Z. Long-Term Rescue of Cone Photoreceptor Degeneration in Retinitis Pigmentosa 2 (RP2) Knockout Mice by Gene Replacement Therapy. Human Molecular Genetics. PMID 26358772 DOI: 10.1093/Hmg/Ddv354  0.479
2015 Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, ... ... Swaroop A, et al. Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. Scientific Reports. 5: 13187. PMID 26306921 DOI: 10.1038/Srep13187  0.448
2015 Kaewkhaw R, Kaya KD, Brooks M, Homma K, Zou J, Chaitankar V, Rao M, Swaroop A. Transcriptome dynamics of developing photoreceptors in three-dimensional retina cultures recapitulates temporal sequence of human cone and rod differentiation revealing cell surface markers and gene networks. Stem Cells (Dayton, Ohio). PMID 26235913 DOI: 10.1002/Stem.2122  0.468
2015 Lazar CH, Kimchi A, Namburi P, Mutsuddi M, Zelinger L, Beryozkin A, Ben-Simhon S, Obolensky A, Ben-Neriah Z, Argov Z, Pikarsky E, Fellig Y, Marks-Ohana D, Ratnapriya R, Banin E, ... ... Swaroop A, et al. Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Human Mutation. PMID 26077327 DOI: 10.1002/Humu.22822  0.461
2015 Oliver V, Jaffe AE, Song J, Wang G, Zhang P, Branham KE, Swaroop A, Eberhart CG, Zack DJ, Qian J, Merbs SL. Differential DNA Methylation Identified in the Blood and Retina of AMD Patients. Epigenetics : Official Journal of the Dna Methylation Society. 0. PMID 26067391 DOI: 10.1080/15592294.2015.1060388  0.314
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  0.473
2015 Rachel RA, Yamamoto EA, Dewanjee MK, May-Simera HL, Sergeev YV, Hackett AN, Pohida K, Munasinghe J, Gotoh N, Wickstead B, Fariss RN, Dong L, Li T, Swaroop A. CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. Human Molecular Genetics. 24: 3775-91. PMID 25859007 DOI: 10.1093/Hmg/Ddv123  0.337
2015 Yang HJ, Ratnapriya R, Cogliati T, Kim JW, Swaroop A. Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Progress in Retinal and Eye Research. 46: 1-30. PMID 25668385 DOI: 10.1016/J.Preteyeres.2015.01.005  0.425
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  0.503
2015 Lazar CH, Mutsuddi M, Kimchi A, Zelinger L, Mizrahi-Meissonnier L, Marks-Ohana D, Boleda A, Ratnapriya R, Sharon D, Swaroop A, Banin E. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. Investigative Ophthalmology & Visual Science. 56: 420-30. PMID 25515582 DOI: 10.1167/Iovs.14-15647  0.481
2015 Mookherjee S, Hiriyanna S, Kaneshiro K, Qian H, Li T, Khanna H, Colosi P, Swaroop A, Wu Z. 714. Gene Therapy Rescues Cone Function and Viability in an Rp2 Knockout Mouse Model for X-Linked Retinitis Pigmentosa Over a Wide Dose Range and a Broad Therapeutic Time Window Molecular Therapy. 23: S285. DOI: 10.1016/S1525-0016(16)34323-4  0.48
2014 Masuda T, Zhang X, Berlinicke C, Wan J, Yerrabelli A, Conner EA, Kjellstrom S, Bush R, Thorgeirsson SS, Swaroop A, Chen S, Zack DJ. The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 15356-68. PMID 25392503 DOI: 10.1523/Jneurosci.2089-14.2014  0.462
2014 Fu Y, Liu H, Ng L, Kim JW, Hao H, Swaroop A, Forrest D. Feedback induction of a photoreceptor-specific isoform of retinoid-related orphan nuclear receptor β by the rod transcription factor NRL. The Journal of Biological Chemistry. 289: 32469-80. PMID 25296752 DOI: 10.1074/Jbc.M114.605774  0.5
2014 Liu C, Lin C, Gao C, May-Simera H, Swaroop A, Li T. Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. Biology Open. 3: 861-70. PMID 25190059 DOI: 10.1242/Bio.20148375  0.327
2014 Kim SY, Yang HJ, Chang YS, Kim JW, Brooks M, Chew EY, Wong WT, Fariss RN, Rachel RA, Cogliati T, Qian H, Swaroop A. Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy. Investigative Ophthalmology & Visual Science. 55: 6031-40. PMID 25159211 DOI: 10.1167/Iovs.14-15091  0.329
2014 Chew EY, Klein ML, Clemons TE, Agrón E, Ratnapriya R, Edwards AO, Fritsche LG, Swaroop A, Abecasis GR. No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38. Ophthalmology. 121: 2173-80. PMID 24974817 DOI: 10.1016/J.Ophtha.2014.05.008  0.316
2014 Veleri S, Manjunath SH, Fariss RN, May-Simera H, Brooks M, Foskett TA, Gao C, Longo TA, Liu P, Nagashima K, Rachel RA, Li T, Dong L, Swaroop A. Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nature Communications. 5: 4207. PMID 24947469 DOI: 10.1038/Ncomms5207  0.365
2014 Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, ... ... Swaroop A, et al. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics. 23: 5827-37. PMID 24899048 DOI: 10.1093/Hmg/Ddu276  0.444
2014 Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A. Age-related macular degeneration: genetics and biology coming together. Annual Review of Genomics and Human Genetics. 15: 151-71. PMID 24773320 DOI: 10.1146/Annurev-Genom-090413-025610  0.351
2014 Hao H, Veleri S, Sun B, Kim DS, Keeley PW, Kim JW, Yang HJ, Yadav SP, Manjunath SH, Sood R, Liu P, Reese BE, Swaroop A. Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Human Molecular Genetics. 23: 4260-71. PMID 24691551 DOI: 10.1093/Hmg/Ddu143  0.51
2014 Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy. Plos One. 9: e92928. PMID 24671090 DOI: 10.1371/Journal.Pone.0092928  0.482
2014 Roger JE, Hiriyanna A, Gotoh N, Hao H, Cheng DF, Ratnapriya R, Kautzmann MA, Chang B, Swaroop A. OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. The Journal of Clinical Investigation. 124: 631-43. PMID 24382353 DOI: 10.1172/Jci72722  0.489
2014 Yadav SP, Hao H, Yang HJ, Kautzmann MA, Brooks M, Nellissery J, Klocke B, Seifert M, Swaroop A. The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression. Human Molecular Genetics. 23: 2132-44. PMID 24301678 DOI: 10.1093/Hmg/Ddt609  0.439
2014 Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, Scott K, Rozsa F, Pawar H, Musch DC, Lichter PR, Gaasterland D, Branham K, Gilbert J, Garnai SJ, ... ... Swaroop A, et al. Genome-wide association study and meta-analysis of intraocular pressure. Human Genetics. 133: 41-57. PMID 24002674 DOI: 10.1007/S00439-013-1349-5  0.332
2014 Roger JE, Swaroop A. Photoreceptor degeneration: Molecular mechanisms of photoreceptor degeneration Vertebrate Photoreceptors: Functional Molecular Bases. 275-308. DOI: 10.1007/978-4-431-54880-5_11  0.318
2013 Keeley PW, Luna G, Fariss RN, Skyles KA, Madsen NR, Raven MA, Poché RA, Swindell EC, Jamrich M, Oh EC, Swaroop A, Fisher SK, Reese BE. Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 17847-62. PMID 24198374 DOI: 10.1523/Jneurosci.1373-13.2013  0.623
2013 Ratnapriya R, Swaroop A. Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing. Genome Medicine. 5: 84. PMID 24112618 DOI: 10.1186/Gm488  0.462
2013 Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, ... ... Swaroop A, et al. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature Genetics. 45: 1375-9. PMID 24036949 DOI: 10.1038/Ng.2758  0.365
2013 Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H. Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. Investigative Ophthalmology & Visual Science. 54: 4503-11. PMID 23745007 DOI: 10.1167/Iovs.13-12140  0.517
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  0.347
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  0.426
2013 Liu H, Kim SY, Fu Y, Wu X, Ng L, Swaroop A, Forrest D. An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons. Nature Communications. 4: 1813. PMID 23652001 DOI: 10.1038/Ncomms2793  0.41
2013 Ma W, Cojocaru R, Gotoh N, Gieser L, Villasmil R, Cogliati T, Swaroop A, Wong WT. Gene expression changes in aging retinal microglia: relationship to microglial support functions and regulation of activation. Neurobiology of Aging. 34: 2310-21. PMID 23608111 DOI: 10.1016/J.Neurobiolaging.2013.03.022  0.404
2013 Homma K, Okamoto S, Mandai M, Gotoh N, Rajasimha HK, Chang YS, Chen S, Li W, Cogliati T, Swaroop A, Takahashi M. Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells (Dayton, Ohio). 31: 1149-59. PMID 23495178 DOI: 10.1002/Stem.1372  0.436
2013 Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, ... ... Swaroop A, et al. Seven new loci associated with age-related macular degeneration. Nature Genetics. 45: 433-9, 439e1-2. PMID 23455636 DOI: 10.1038/Ng.2578  0.355
2013 Swaroop A. What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases. Investigative Ophthalmology & Visual Science. 54: 1417. PMID 23423174 DOI: 10.1167/Iovs.13-11750  0.502
2013 Liu C, Lin C, Whitaker DT, Bakeri H, Bulgakov OV, Liu P, Lei J, Dong L, Li T, Swaroop A. Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis. Human Molecular Genetics. 22: 2234-46. PMID 23420014 DOI: 10.1093/Hmg/Ddt075  0.356
2013 Nasonkin IO, Merbs SL, Lazo K, Oliver VF, Brooks M, Patel K, Enke RA, Nellissery J, Jamrich M, Le YZ, Bharti K, Fariss RN, Rachel RA, Zack DJ, Rodriguez-Boulan EJ, ... Swaroop A, et al. Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis. Development (Cambridge, England). 140: 1330-41. PMID 23406904 DOI: 10.1242/Dev.086603  0.481
2012 Rachel RA, Li T, Swaroop A. Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia. 1: 22. PMID 23351659 DOI: 10.1186/2046-2530-1-22  0.447
2012 Dickison VM, Richmond AM, Abu Irqeba A, Martak JG, Hoge SC, Brooks MJ, Othman MI, Khanna R, Mears AJ, Chowdhury AY, Swaroop A, Ogilvie JM. A role for prenylated rab acceptor 1 in vertebrate photoreceptor development. Bmc Neuroscience. 13: 152. PMID 23241222 DOI: 10.1186/1471-2202-13-152  0.492
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, ... ... Swaroop A, 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  0.461
2012 Priya RR, Chew EY, Swaroop A. Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. Ophthalmology. 119: 2526-36. PMID 23009893 DOI: 10.1016/J.Ophtha.2012.06.042  0.337
2012 Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Investigative Ophthalmology & Visual Science. 53: 5594-608. PMID 22807293 DOI: 10.1167/Iovs.12-10070  0.517
2012 Priya RR, Rajasimha HK, Brooks MJ, Swaroop A. Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery. Methods in Molecular Biology (Clifton, N.J.). 884: 335-51. PMID 22688718 DOI: 10.1007/978-1-61779-848-1_24  0.304
2012 Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. Plos One. 7: e35865. PMID 22563472 DOI: 10.1371/Journal.Pone.0035865  0.532
2012 Forrest D, Swaroop A. Minireview: the role of nuclear receptors in photoreceptor differentiation and disease. Molecular Endocrinology (Baltimore, Md.). 26: 905-15. PMID 22556342 DOI: 10.1210/Me.2012-1010  0.368
2012 Hao H, Kim DS, Klocke B, Johnson KR, Cui K, Gotoh N, Zang C, Gregorski J, Gieser L, Peng W, Fann Y, Seifert M, Zhao K, Swaroop A. Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis. Plos Genetics. 8: e1002649. PMID 22511886 DOI: 10.1371/Journal.Pgen.1002649  0.506
2012 Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, Sood R, Liu P, Swaroop A. Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. Plos One. 7: e34389. PMID 22479622 DOI: 10.1371/Journal.Pone.0034389  0.418
2012 Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, ... ... Swaroop A, et al. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. The Journal of Clinical Investigation. 122: 1233-45. PMID 22446187 DOI: 10.1172/Jci60981  0.413
2012 Sharma YV, Cojocaru RI, Ritter LM, Khattree N, Brooks M, Scott A, Swaroop A, Goldberg AF. Protective gene expression changes elicited by an inherited defect in photoreceptor structure. Plos One. 7: e31371. PMID 22363631 DOI: 10.1371/Journal.Pone.0031371  0.539
2012 Beltran WA, Cideciyan AV, Lewin AS, Iwabe S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, et al. 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. 109: 2132-7. PMID 22308428 DOI: 10.1073/Pnas.1118847109  0.525
2012 Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, et al. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International Journal of Epidemiology. 41: 250-62. PMID 22253316 DOI: 10.1093/Ije/Dyr204  0.332
2012 Roger JE, Ranganath K, Zhao L, Cojocaru RI, Brooks M, Gotoh N, Veleri S, Hiriyanna A, Rachel RA, Campos MM, Fariss RN, Wong WT, Swaroop A. Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 528-41. PMID 22238088 DOI: 10.1523/Jneurosci.3591-11.2012  0.509
2012 Liu C, Bakeri H, Li T, Swaroop A. Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. Human Molecular Genetics. 21: 1848-60. PMID 22228100 DOI: 10.1093/Hmg/Ddr616  0.483
2012 Rachel R, Yamamoto E, Dewanjee M, Munasinghe J, May-Simera H, Dong L, Swaroop A. CEP290 is required for photoreceptor ciliogenesis and other cilia related functions Cilia. 1. DOI: 10.1186/2046-2530-1-S1-P98  0.378
2012 May-Simera H, Rachel R, Choi B, Li T, Friedman T, Swaroop A, Kelley M. Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles Cilia. 1. DOI: 10.1186/2046-2530-1-S1-P94  0.355
2011 Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, ... ... Swaroop A, et al. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. Plos One. 6: e25598. PMID 22022419 DOI: 10.1371/Journal.Pone.0025598  0.309
2011 Hao H, Tummala P, Guzman E, Mali RS, Gregorski J, Swaroop A, Mitton KP. The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter. The Journal of Biological Chemistry. 286: 34893-902. PMID 21849497 DOI: 10.1074/Jbc.M111.271072  0.457
2011 Cheng H, Khan NW, Roger JE, Swaroop A. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Human Molecular Genetics. 20: 4102-15. PMID 21813656 DOI: 10.1093/Hmg/Ddr334  0.544
2011 Kautzmann MA, Kim DS, Felder-Schmittbuhl MP, Swaroop A. Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis. The Journal of Biological Chemistry. 286: 28247-55. PMID 21673114 DOI: 10.1074/Jbc.M111.257246  0.465
2011 Xue W, Cojocaru RI, Dudley VJ, Brooks M, Swaroop A, Sarthy VP. Ciliary neurotrophic factor induces genes associated with inflammation and gliosis in the retina: a gene profiling study of flow-sorted, Müller cells. Plos One. 6: e20326. PMID 21637858 DOI: 10.1371/Journal.Pone.0020326  0.486
2011 McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, ... ... Swaroop A, et al. Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. American Journal of Epidemiology. 173: 1357-64. PMID 21498624 DOI: 10.1093/Aje/Kwr015  0.303
2011 Nasonkin IO, Lazo K, Hambright D, Brooks M, Fariss R, Swaroop A. Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina. The Journal of Comparative Neurology. 519: 1914-30. PMID 21452232 DOI: 10.1002/Cne.22613  0.442
2011 Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Human Molecular Genetics. 20: 1411-23. PMID 21245082 DOI: 10.1093/Hmg/Ddr022  0.519
2011 Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, ... Swaroop A, et al. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Human Molecular Genetics. 20: 975-87. PMID 21159800 DOI: 10.1093/Hmg/Ddq543  0.506
2011 Brión M, Sanchez-Salorio M, Cortón M, de la Fuente M, Pazos B, Othman M, Swaroop A, Abecasis G, Sobrino B, Carracedo A. Genetic association study of age-related macular degeneration in the Spanish population. Acta Ophthalmologica. 89: e12-22. PMID 21106043 DOI: 10.1111/J.1755-3768.2010.02040.X  0.31
2011 Yao J, Feathers KL, Khanna H, Thompson D, Tsilfidis C, Hauswirth WW, Heckenlively JR, Swaroop A, Zacks DN. XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina. Investigative Ophthalmology & Visual Science. 52: 1567-72. PMID 20926819 DOI: 10.1167/Iovs.10-5998  0.317
2010 Parapuram SK, Cojocaru RI, Chang JR, Khanna R, Brooks M, Othman M, Zareparsi S, Khan NW, Gotoh N, Cogliati T, Swaroop A. Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases. Plos One. 5: e13885. PMID 21079736 DOI: 10.1371/Journal.Pone.0013885  0.417
2010 Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W, Tran KD, Schmid-Kubista KE, Heckenlively JR, Swaroop A, Abecasis G, Bailey KR, Edwards AO. E2-2 protein and Fuchs's corneal dystrophy. The New England Journal of Medicine. 363: 1016-24. PMID 20825314 DOI: 10.1056/Nejmoa1007064  0.394
2010 Hurd T, Zhou W, Jenkins P, Liu CJ, Swaroop A, Khanna H, Martens J, Hildebrandt F, Margolis B. The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Human Molecular Genetics. 19: 4330-44. PMID 20729296 DOI: 10.1093/Hmg/Ddq355  0.439
2010 Friedman JS, Chang B, Krauth DS, Lopez I, Waseem NH, Hurd RE, Feathers KL, Branham KE, Shaw M, Thomas GE, Brooks MJ, Liu C, Bakeri HA, Campos MM, Maubaret C, ... ... Swaroop A, et al. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proceedings of the National Academy of Sciences of the United States of America. 107: 15523-8. PMID 20713727 DOI: 10.1073/Pnas.1002897107  0.522
2010 Swaroop A, Kim D, Forrest D. Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nature Reviews. Neuroscience. 11: 563-76. PMID 20648062 DOI: 10.1038/Nrn2880  0.447
2010 Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H. Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Human Molecular Genetics. 19: 3591-8. PMID 20631154 DOI: 10.1093/Hmg/Ddq275  0.502
2010 Jayasundera T, Branham KE, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 128: 915-23. PMID 20625056 DOI: 10.1001/Archophthalmol.2010.122  0.444
2010 Roger JE, Nellissery J, Kim DS, Swaroop A. Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation. The Journal of Biological Chemistry. 285: 25637-44. PMID 20551322 DOI: 10.1074/Jbc.M110.142810  0.478
2010 Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 128: 772-8. PMID 20547956 DOI: 10.1001/Archophthalmol.2010.98  0.508
2010 Nichols LL, Alur RP, Boobalan E, Sergeev YV, Caruso RC, Stone EM, Swaroop A, Johnson MA, Brooks BP. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human Mutation. 31: E1472-83. PMID 20513135 DOI: 10.1002/Humu.21268  0.45
2010 Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, ... ... Swaroop A, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proceedings of the National Academy of Sciences of the United States of America. 107: 7401-6. PMID 20385819 DOI: 10.1073/Pnas.0912702107  0.305
2010 Strunnikova NV, Maminishkis A, Barb JJ, Wang F, Zhi C, Sergeev Y, Chen W, Edwards AO, Stambolian D, Abecasis G, Swaroop A, Munson PJ, Miller SS. Transcriptome analysis and molecular signature of human retinal pigment epithelium. Human Molecular Genetics. 19: 2468-86. PMID 20360305 DOI: 10.1093/Hmg/Ddq129  0.507
2010 Murga-Zamalloa C, Swaroop A, Khanna H. Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Advances in Experimental Medicine and Biology. 664: 105-14. PMID 20238008 DOI: 10.1007/978-1-4419-1399-9_13  0.521
2010 Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative Ophthalmology & Visual Science. 51: 2656-63. PMID 20042663 DOI: 10.1167/Iovs.09-4857  0.488
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  0.416
2010 Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H. Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Human Molecular Genetics. 19: 90-8. PMID 19815619 DOI: 10.1093/Hmg/Ddp469  0.48
2009 Murga-Zamalloa CA, Swaroop A, Khanna H. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. Journal of Genetics. 88: 399-407. PMID 20090203 DOI: 10.1007/S12041-009-0061-7  0.434
2009 Kanda A, Swaroop A. A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3 Molecular Vision. 15: 2174-2184. PMID 19898638  0.339
2009 Jia L, Oh EC, Ng L, Srinivas M, Brooks M, Swaroop A, Forrest D. Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development. Proceedings of the National Academy of Sciences of the United States of America. 106: 17534-9. PMID 19805139 DOI: 10.1073/Pnas.0902425106  0.627
2009 Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, ... ... Swaroop A, et al. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics. 84: 792-800. PMID 19520207 DOI: 10.1016/J.Ajhg.2009.05.007  0.817
2009 Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA. Rdh12 activity and effects on retinoid processing in the murine retina. The Journal of Biological Chemistry. 284: 21468-77. PMID 19506076 DOI: 10.1074/Jbc.M109.020966  0.425
2009 Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, ... ... Swaroop A, et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41: 739-45. PMID 19430481 DOI: 10.1038/Ng.366  0.513
2009 Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annual Review of Genomics and Human Genetics. 10: 19-43. PMID 19405847 DOI: 10.1146/Annurev.Genom.9.081307.164350  0.324
2009 Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Human Molecular Genetics. 18: 1909-23. PMID 19279158 DOI: 10.1093/Hmg/Ddp112  0.546
2009 Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, Swaroop A, Friedman JS, Aguirre GD, Acland GM. Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 20: 109-23. PMID 19130129 DOI: 10.1007/S00335-008-9163-4  0.385
2008 Tsang WY, Bossard C, Khanna H, Peränen J, Swaroop A, Malhotra V, Dynlacht BD. CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Developmental Cell. 15: 187-97. PMID 18694559 DOI: 10.1016/J.Devcel.2008.07.004  0.326
2008 Siffroi-Fernandez S, Felder-Schmittbuhl MP, Khanna H, Swaroop A, Hicks D. FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro. Investigative Ophthalmology & Visual Science. 49: 1696-704. PMID 18385093 DOI: 10.1167/Iovs.07-1272  0.34
2008 Edwards AO, Chen D, Fridley BL, James KM, Wu Y, Abecasis G, Swaroop A, Othman M, Branham K, Iyengar SK, Sivakumaran TA, Klein R, Klein BE, Tosakulwong N. Toll-like receptor polymorphisms and age-related macular degeneration. Investigative Ophthalmology & Visual Science. 49: 1652-9. PMID 18385087 DOI: 10.1167/Iovs.07-1378  0.334
2008 Kanda A, Abecasis G, Swaroop A. Inflammation in the pathogenesis of age-related macular degeneration British Journal of Ophthalmology. 92: 448-450. PMID 18369057 DOI: 10.1136/Bjo.2007.131581  0.437
2008 Walia S, Fishman GA, Swaroop A, Branham KEH, Lindeman M, Othman M, Weleber RG. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene Archives of Ophthalmology. 126: 379-384. PMID 18332319 DOI: 10.1001/Archophthalmol.2007.72  0.522
2008 Feathers KL, Lyubarsky AL, Khan NW, Teofilo K, Swaroop A, Williams DS, Pugh EN, Thompson DA. Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments. Investigative Ophthalmology & Visual Science. 49: 1126-35. PMID 18326740 DOI: 10.1167/Iovs.07-1234  0.422
2008 Oh ECT, Cheng H, Hao H, Jia L, Khan NW, Swaroop A. Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors Brain Research. 1236: 16-29. PMID 18294621 DOI: 10.1016/J.Brainres.2008.01.028  0.665
2008 Iannaccone A, Othman MI, Cantrell AD, Jennings BJ, Branham K, Swaroop A. Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. Advances in Experimental Medicine and Biology. 613: 221-7. PMID 18188948 DOI: 10.1007/978-0-387-74904-4_25  0.514
2008 He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Research. 48: 366-76. PMID 17904189 DOI: 10.1016/J.Visres.2007.08.005  0.515
2007 Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, ... ... Swaroop A, et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. American Journal of Human Genetics. 81: 1098-103. PMID 17924349 DOI: 10.1086/521953  0.541
2007 Swaroop A, Branham KEH, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: A paradigm for dissecting complex disease traits Human Molecular Genetics. 16. PMID 17911160 DOI: 10.1093/Hmg/Ddm212  0.396
2007 Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Investigative Ophthalmology & Visual Science. 48: 4759-65. PMID 17898302 DOI: 10.1167/Iovs.07-0453  0.497
2007 McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proceedings of the National Academy of Sciences of the United States of America. 104: 15917-22. PMID 17898177 DOI: 10.1073/Pnas.0704140104  0.34
2007 Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proceedings of the National Academy of Sciences of the United States of America. 104: 16227-32. PMID 17884985 DOI: 10.1073/Pnas.0703933104  0.343
2007 Suzuki T, Akimoto M, Imai H, Ueda Y, Mandai M, Yoshimura N, Swaroop A, Takahashi M. Chondroitinase ABC treatment enhances synaptogenesis between transplant and host neurons in model of retinal degeneration. Cell Transplantation. 16: 493-503. PMID 17708339 DOI: 10.3727/000000007783464966  0.355
2007 Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Investigative Ophthalmology & Visual Science. 48: 3283-91. PMID 17591900 DOI: 10.1167/Iovs.06-1422  0.411
2007 Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. 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. 28: 1074-83. PMID 17554762 DOI: 10.1002/Humu.20565  0.488
2007 Rosenzweig DH, Nair KS, Wei J, Wang Q, Garwin G, Saari JC, Chen CK, Smrcka AV, Swaroop A, Lem J, Hurley JB, Slepak VZ. Subunit dissociation and diffusion determine the subcellular localization of rod and cone transducins. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 5484-94. PMID 17507570 DOI: 10.1523/Jneurosci.1421-07.2007  0.328
2007 Raven MA, Oh EC, Swaroop A, Reese BE. Afferent control of horizontal cell morphology revealed by genetic respecification of rods and cones. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 27: 3540-7. PMID 17392470 DOI: 10.1523/Jneurosci.0372-07.2007  0.568
2007 Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Human Mutation. 28: 589-98. PMID 17335001 DOI: 10.1002/Humu.20488  0.349
2007 Oh EC, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A. Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proceedings of the National Academy of Sciences of the United States of America. 104: 1679-84. PMID 17242361 DOI: 10.1073/Pnas.0605934104  0.669
2007 Merienne K, Friedman J, Akimoto M, Abou-Sleymane G, Weber C, Swaroop A, Trottier Y. Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy. Neurobiology of Disease. 25: 571-81. PMID 17189700 DOI: 10.1016/J.Nbd.2006.11.002  0.411
2006 Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, ... ... Swaroop A, et al. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. American Journal of Human Genetics. 79: 1059-70. PMID 17186464 DOI: 10.1086/510021  0.487
2006 MacLaren RE, Pearson RA, MacNeil A, Douglas RH, Salt TE, Akimoto M, Swaroop A, Sowden JC, Ali RR. Retinal repair by transplantation of photoreceptor precursors. Nature. 444: 203-7. PMID 17093405 DOI: 10.1038/Nature05161  0.404
2006 Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nature Genetics. 38: 1049-54. PMID 16936733 DOI: 10.1038/Ng1871  0.324
2006 Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development Human Molecular Genetics. 15: 2588-2602. PMID 16868010 DOI: 10.1093/Hmg/Ddl185  0.516
2006 Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A. Retinoic acid regulates the expression of photoreceptor transcription factor NRL. The Journal of Biological Chemistry. 281: 27327-34. PMID 16854989 DOI: 10.1074/Jbc.M605500200  0.348
2006 Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, ... ... Swaroop A, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics. 38: 674-81. PMID 16682973 DOI: 10.1038/Ng1786  0.432
2006 Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, ... ... Swaroop A, et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Human Molecular Genetics. 15: 1847-57. PMID 16632484 DOI: 10.1093/Hmg/Ddl107  0.479
2006 Zacks DN, Han Y, Zeng Y, Swaroop A. Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment Investigative Ophthalmology and Visual Science. 47: 1691-1695. PMID 16565410 DOI: 10.1167/Iovs.05-1209  0.502
2006 Akimoto M, Cheng H, Zhu D, Brzezinski JA, Khanna R, Filippova E, Oh EC, Jing Y, Linares JL, Brooks M, Zareparsi S, Mears AJ, Hero A, Glaser T, Swaroop A. Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proceedings of the National Academy of Sciences of the United States of America. 103: 3890-5. PMID 16505381 DOI: 10.1073/Pnas.0508214103  0.672
2006 Nagaraja GM, Othman M, Fox BP, Alsaber R, Pellegrino CM, Zeng Y, Khanna R, Tamburini P, Swaroop A, Kandpal RP. Gene expression signatures and biomarkers of noninvasive and invasive breast cancer cells: comprehensive profiles by representational difference analysis, microarrays and proteomics. Oncogene. 25: 2328-38. PMID 16314837 DOI: 10.1038/Sj.Onc.1209265  0.332
2006 Cheng H, Aleman TS, Cideciyan AV, Akimoto M, Jacobson SG, Swaroop A. The orphan nuclear receptor Nr2e3 plays dual functions in rod photoreceptor differentiation Developmental Biology. 295: 406. DOI: 10.1016/J.Ydbio.2006.04.245  0.479
2005 Zhu D, Hero AO, Qin ZS, Swaroop A. High throughput screening of co-expressed gene pairs with controlled false discovery rate (FDR) and minimum acceptable strength (MAS). Journal of Computational Biology : a Journal of Computational Molecular Cell Biology. 12: 1029-45. PMID 16201920 DOI: 10.1089/Cmb.2005.12.1029  0.305
2005 Zhu D, Hero AO, Cheng H, Khanna R, Swaroop A. Network constrained clustering for gene microarray data. Bioinformatics (Oxford, England). 21: 4014-20. PMID 16141248 DOI: 10.1093/Bioinformatics/Bti655  0.329
2005 Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. The Journal of Biological Chemistry. 280: 33580-7. PMID 16043481 DOI: 10.1074/Jbc.M505827200  0.475
2005 Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, et al. Meta-analysis of genome scans of age-related macular degeneration. Human Molecular Genetics. 14: 2257-64. PMID 15987700 DOI: 10.1093/Hmg/Ddi230  0.331
2005 Carter TA, Greenhall JA, Yoshida S, Fuchs S, Helton R, Swaroop A, Lockhart DJ, Barlow C. Mechanisms of aging in senescence-accelerated mice. Genome Biology. 6: R48. PMID 15960800 DOI: 10.1186/Gb-2005-6-6-R48  0.323
2005 Daniele LL, Lillo C, Lyubarsky AL, Nikonov SS, Philp N, Mears AJ, Swaroop A, Williams DS, Pugh EN. Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Investigative Ophthalmology & Visual Science. 46: 2156-67. PMID 15914637 DOI: 10.1167/Iovs.04-1427  0.376
2005 Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. American Journal of Human Genetics. 77: 149-53. PMID 15895326 DOI: 10.1086/431426  0.302
2005 Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Human Molecular Genetics. 14: 1449-55. PMID 15829498 DOI: 10.1093/Hmg/Ddi154  0.372
2005 Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Human Molecular Genetics. 14: 1183-97. PMID 15772089 DOI: 10.1093/Hmg/Ddi129  0.345
2005 Nikonov SS, Daniele LL, Zhu X, Craft CM, Swaroop A, Pugh EN. Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. The Journal of General Physiology. 125: 287-304. PMID 15738050 DOI: 10.1085/Jgp.200409208  0.379
2005 Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, ... ... Swaroop A, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics. 37: 282-8. PMID 15723066 DOI: 10.1038/Ng1520  0.497
2004 Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proceedings of the National Academy of Sciences of the United States of America. 101: 17819-24. PMID 15591106 DOI: 10.1073/Pnas.0408183101  0.493
2004 Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, ... Swaroop A, et al. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Human Mutation. 24: 439. PMID 15459973 DOI: 10.1002/Humu.9285  0.416
2004 Strettoi E, Mears AJ, Swaroop A. Recruitment of the rod pathway by cones in the absence of rods. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 7576-82. PMID 15329405 DOI: 10.1523/Jneurosci.2245-04.2004  0.408
2004 Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. The Journal of Biological Chemistry. 279: 47233-41. PMID 15328344 DOI: 10.1074/Jbc.M408298200  0.36
2004 Lord-Grignon J, Tétreault N, Mears AJ, Swaroop A, Bernier G. Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. Investigative Ophthalmology & Visual Science. 45: 3313-9. PMID 15326156 DOI: 10.1167/Iovs.03-1350  0.528
2004 Yu J, He S, Friedman JS, Akimoto M, Ghosh D, Mears AJ, Hicks D, Swaroop A. Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays. The Journal of Biological Chemistry. 279: 42211-20. PMID 15292180 DOI: 10.1074/Jbc.M408223200  0.647
2004 Bumsted O'Brien KM, Cheng H, Jiang Y, Schulte D, Swaroop A, Hendrickson AE. Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina. Investigative Ophthalmology & Visual Science. 45: 2807-12. PMID 15277507 DOI: 10.1167/Iovs.03-1317  0.447
2004 Zareparsi S, Hero A, Zack DJ, Williams RW, Swaroop A. Seeing the unseen: Microarray-based gene expression profiling in vision. Investigative Ophthalmology & Visual Science. 45: 2457-62. PMID 15277464 DOI: 10.1167/Iovs.04-0183  0.392
2004 Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics. 13: 1893-902. PMID 15229190 DOI: 10.1093/Hmg/Ddh198  0.522
2004 Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Human Molecular Genetics. 13: 1563-75. PMID 15190009 DOI: 10.1093/Hmg/Ddh173  0.683
2004 Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A. Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Human Molecular Genetics. 13: 1487-503. PMID 15163632 DOI: 10.1093/Hmg/Ddh160  0.832
2004 Iannaccone A, Wang X, Jablonski MM, Kuo SF, Baldi A, Cosgrove D, Morton CC, Swaroop A. Increasing evidence for syndromic phenotypes associated with RPGR mutations. American Journal of Ophthalmology. 137: 785-6; author reply . PMID 15059739 DOI: 10.1016/J.Ajo.2003.11.050  0.314
2004 Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ. QRX, a novel homeobox gene, modulates photoreceptor gene expression. Human Molecular Genetics. 13: 1025-40. PMID 15028672 DOI: 10.1093/Hmg/Ddh117  0.498
2004 Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB. Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity. The Journal of Biological Chemistry. 279: 19800-7. PMID 15001570 DOI: 10.1074/Jbc.M401864200  0.375
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, ... ... Swaroop A, 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  0.345
2004 Yu J, Mears AJ, Yoshida S, Farjo R, Carter TA, Ghosh D, Hero A, Barlow C, Swaroop A. From disease genes to cellular pathways: a progress report. Novartis Foundation Symposium. 255: 147-60; discussion 1. PMID 14750602 DOI: 10.1002/0470092645.Ch11  0.83
2004 Akimoto M, Filippova E, Gage PJ, Zhu X, Craft CM, Swaroop A. Transgenic mice expressing Cre-recombinase specifically in M- or S-cone photoreceptors. Investigative Ophthalmology & Visual Science. 45: 42-7. PMID 14691152 DOI: 10.1167/Iovs.03-0804  0.336
2004 Hero AO, Fleury G, Mears AJ, Swaroop A. Multicriteria Gene Screening for Analysis of Differential Expression with DNA Microarrays Eurasip Journal On Applied Signal Processing. 2004: 43-52. DOI: 10.1155/S1110865704310036  0.337
2004 IANNACCONE A, WANG X, JABLONSKI M, KUO S, BALDI A, COSGROVE D, MORTON C, SWAROOP A. Increasing evidence for syndromic phenotypes associated with RPGR mutations American Journal of Ophthalmology. 137: 785-786. DOI: 10.1016/S0002-9394(03)01459-4  0.314
2004 Fleury G, Hero A, Zareparsi S, Swaroop A. Gene discovery using Pareto depth sampling distributions Journal of the Franklin Institute. 341: 55-75. DOI: 10.1016/J.Jfranklin.2003.12.007  0.325
2003 Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. Journal of Medical Genetics. 40: e118. PMID 14627685 DOI: 10.1136/Jmg.40.11.E118  0.81
2003 Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genetics. 24: 215-23. PMID 14566651 DOI: 10.1076/Opge.24.4.215.17228  0.809
2003 Yu J, Farjo R, MacNee SP, Baehr W, Stambolian DE, Swaroop A. Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina. Genome Biology. 4: R65. PMID 14519200 DOI: 10.1186/Gb-2003-4-10-R65  0.805
2003 Xi J, Farjo R, Yoshida S, Kern TS, Swaroop A, Andley UP. A comprehensive analysis of the expression of crystallins in mouse retina Molecular Vision. 9: 410-419. PMID 12949468  0.779
2003 Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. 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. 12: 2657-67. PMID 12944416 DOI: 10.1093/Hmg/Ddg289  0.47
2003 Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Investigative Ophthalmology & Visual Science. 44: 3593-7. PMID 12882812 DOI: 10.1167/Iovs.03-0155  0.48
2003 Zhu X, Brown B, Li A, Mears AJ, Swaroop A, Craft CM. GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 6152-60. PMID 12853434 DOI: 10.1523/Jneurosci.23-14-06152.2003  0.351
2003 Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A. Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor. Human Molecular Genetics. 12: 365-73. PMID 12566383 DOI: 10.1093/Hmg/Ddg035  0.465
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  0.409
2002 Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Experimental Eye Research. 75: 431-43. PMID 12387791 DOI: 10.1006/Exer.2002.2037  0.825
2002 Wang X, Xu S, Rivolta C, Li LY, Peng GH, Swain PK, Sung CH, Swaroop A, Berson EL, Dryja TP, Chen S. Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. The Journal of Biological Chemistry. 277: 43288-300. PMID 12215455 DOI: 10.1074/Jbc.M207952200  0.495
2002 Swaroop A, Zack DJ. Transcriptome analysis of the retina. Genome Biology. 3: REVIEWS1022. PMID 12186651 DOI: 10.1186/Gb-2002-3-8-Reviews1022  0.468
2002 Yoshida S, Yashar BM, Hiriyanna S, Swaroop A. Microarray analysis of gene expression in the aging human retina Investigative Ophthalmology and Visual Science. 43: 2554-2560. PMID 12147584  0.381
2002 Yu J, Othman MI, Farjo R, Zareparsi S, MacNee SP, Yoshida S, Swaroop A. Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays. Molecular Vision. 8: 130-7. PMID 12011805  0.756
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, ... ... Swaroop A, 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  0.81
2002 Buraczynska M, Mears AJ, Zareparsi S, Farjo R, Filippova E, Yuan Y, MacNee SP, Hughes B, Swaroop A. Gene expression profile of native human retinal pigment epithelium. Investigative Ophthalmology & Visual Science. 43: 603-7. PMID 11867573  0.788
2002 Farjo R, Yu J, Othman MI, Yoshida S, Sheth S, Glaser T, Baehr W, Swaroop A. Mouse eye gene microarrays for investigating ocular development and disease. Vision Research. 42: 463-70. PMID 11853762 DOI: 10.1016/S0042-6989(01)00219-X  0.793
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, 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  0.425
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  0.536
2001 Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A. Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. The Journal of Biological Chemistry. 276: 36824-30. PMID 11477108 DOI: 10.1074/Jbc.M105855200  0.461
2001 Guevara-Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, Vicencio C, Pena M, Fishman G, Mintz-Hittner H, Birch D, Hoffman D, Mears A, Fujita R, Swaroop A. Five novel RPGR mutations in families with X-linked retinitis pigmentosa Human Mutation. 17: 151. PMID 11180598 DOI: 10.1002/1098-1004(200102)17:2<151::Aid-Humu7>3.0.Co;2-W  0.43
2000 Bessant DAR, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies European Journal of Human Genetics. 8: 783-787. PMID 11039579 DOI: 10.1038/Sj.Ejhg.5200538  0.412
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  0.482
2000 Hughes BA, Kumar G, Yuan Y, Swaminathan A, Yan D, Sharma A, Plumley L, Yang-Feng TL, Swaroop A. Cloning and functional expression of human retinal kir2.4, a pH-sensitive inwardly rectifying K(+) channel. American Journal of Physiology. Cell Physiology. 279: C771-84. PMID 10942728 DOI: 10.1152/Ajpcell.2000.279.3.C771  0.399
2000 Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. The Journal of Biological Chemistry. 275: 29794-9. PMID 10887186 DOI: 10.1074/Jbc.M003658200  0.358
2000 Sinha S, Sharma A, Agarwal N, Swaroop A, Yang-Feng TL. Expression profile and chromosomal location of cDNA clones, identified from an enriched adult human retina library Investigative Ophthalmology and Visual Science. 41: 24-28. PMID 10634596  0.355
1999 Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nature Genetics. 21: 355-6. PMID 10192380 DOI: 10.1038/7678  0.45
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  0.34
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  0.49
1998 Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype Ophthalmic Genetics. 19: 187-196. PMID 9895243 DOI: 10.1076/Opge.19.4.187.2305  0.436
1998 He L, Campbell ML, Srivastava D, Blocker YS, Harris JR, Swaroop A, Fox DA. Spatial and temporal expression of AP-1 responsive rod photoreceptor genes and bZIP transcription factors during development of the rat retina. Molecular Vision. 4: 32. PMID 9873070  0.309
1998 Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A. 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. 105: 2286-96. PMID 9855162 DOI: 10.1016/S0161-6420(98)91231-3  0.497
1998 Gieser L, Fujita R, Göring HHH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27 American Journal of Human Genetics. 63: 1439-1447. PMID 9792872 DOI: 10.1086/302121  0.423
1998 Yan D, Swain PK, Breuer D, Tucker RM, Wu W, Fujita R, Rehemtulla A, Burke D, Swaroop A. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). The Journal of Biological Chemistry. 273: 19656-63. PMID 9677393 DOI: 10.1074/Jbc.273.31.19656  0.83
1998 Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, ... ... Swaroop A, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (New York, N.Y.). 280: 1753-7. PMID 9624053 DOI: 10.1126/Science.280.5370.1753  0.427
1998 Sharon-Friling R, Richardson J, Sperbeck S, Lee D, Rauchman M, Maas R, Swaroop A, Wistow G. Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites. Molecular and Cellular Biology. 18: 2067-76. PMID 9528779 DOI: 10.1128/Mcb.18.4.2067  0.32
1998 Fishman GA, Graver S, Buraczynska M, Wu W, Swaroop A. A new 2-base pair deletion in the RPGR gene in a black family with X- linked retinitis pigmentosa Archives of Ophthalmology. 116: 213-218. PMID 9488274 DOI: 10.1001/Archopht.116.2.213  0.491
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  0.522
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  0.477
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  0.528
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  0.493
1997 Andreasson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, Buraczynska M, Swaroop A. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene American Journal of Ophthalmology. 124: 95-102. PMID 9222238 DOI: 10.1016/S0002-9394(14)71649-6  0.495
1997 Forsythe P, Maguire A, Fujita R, Moen C, Swaroop A, Bennett J. A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia Experimental Eye Research. 64: 487-490. PMID 9196401 DOI: 10.1006/Exer.1996.0200  0.349
1996 Kumar R, Chen S, Scheurer D, Wang QL, Duh E, Sung CH, Rehemtulla A, Swaroop A, Adler R, Zack DJ. The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures. The Journal of Biological Chemistry. 271: 29612-8. PMID 8939891 DOI: 10.1074/Jbc.271.47.29612  0.423
1996 Lin X, Swaroop A, Vaccarino FM, Murtha MT, Haas M, Ji X, Ruddle FH, Leckman JF. Characterization and sequence analysis of the human homeobox-containing gene GBX2. Genomics. 31: 335-42. PMID 8838315 DOI: 10.1006/Geno.1996.0056  0.369
1996 Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A. The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proceedings of the National Academy of Sciences of the United States of America. 93: 191-5. PMID 8552602 DOI: 10.1073/Pnas.93.1.191  0.466
1996 Liu Q, Ji X, Breitman ML, Hitchcock PF, Swaroop A. Expression of the bZIP transcription factor gene Nrl in the developing nervous system. Oncogene. 12: 207-11. PMID 8552394  0.326
1996 Yan D, Fujita R, Swaroop A. [11]Isolation of candidate genes for inherited diseases: Application to X-linked retinal degenerations Methods in Molecular Genetics. 8: 207-228. DOI: 10.1016/S1067-2389(96)80044-6  0.363
1996 Hsieh F, Kido M, Swaroop A, Blanks JC, Rich KA. In situ localization of bZIP transcription factor NRL during mouse retinal development demonstrates a temporal correlation with rod photoreceptor differentiation Investigative Ophthalmology and Visual Science. 37: S624.  0.31
1996 Warwar R, Farjo Q, Lee C, Sadri E, Forsythe P, Swaroop A. Organization of the human bZIP transcription factor gene NRL and characterization of its promoter region Investigative Ophthalmology and Visual Science. 37.  0.324
1995 Shaywitz DA, Orci L, Ravazzola M, Swaroop A, Kaiser CA. Human SEC13Rp functions in yeast and is located on transport vesicles budding from the endoplasmic reticulum Journal of Cell Biology. 128: 769-777. PMID 7876304 DOI: 10.1083/Jcb.128.5.769  0.318
1995 Agarwal N, Swaroop A, Zheng K, Liou JD, O'Rourke K, Graves KA, Gieser L, Del Monte M, Yang-Feng TL. Expression and chromosomal localization of cDNA clones from an enriched human retinal pigment epithelial (RPE) cell line library: identification of two RPE-specific genes. Cytogenetics and Cell Genetics. 69: 71-4. PMID 7835092 DOI: 10.1159/000133941  0.331
1995 Fujita R, Skolnick C, Pakstis AJ, Yang-Feng TL, Swaroop A. Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13 Human Genetics. 95: 467-468. PMID 7705848 DOI: 10.1007/Bf00208981  0.301
1994 Hernando N, Martin-Vasallo P, Ghosh S, Ghosh PK, Swaroop A, Coca-Prados M. Nucleotide sequence of a cDNA for the beta 2 subunit isoform of Na+,K(+)-ATPase from human retina. Biochimica Et Biophysica Acta. 1189: 109-11. PMID 8305453 DOI: 10.1016/0005-2736(94)90287-9  0.307
1994 Tombran-Tink J, Pawar H, Swaroop A, Rodriguez I, Chader GJ. Localization of the Gene for Pigment Epithelium-Derived Factor (PEDF) to Chromosome 17p13.1 and Expression in Cultured Human Retinoblastoma Cells Genomics. 19: 266-272. PMID 8188257 DOI: 10.1006/Geno.1994.1057  0.361
1994 Swaroop A, Yang-feng TL, Liu W, Gieser L, Barrow LL, Chen KC, Agarwal N, Meisler MH, Smith DI. Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6 Human Molecular Genetics. 3: 1281-1286. PMID 7987303 DOI: 10.1093/Hmg/3.8.1281  0.372
1993 Farjo Q, Jackson AU, Xu J, Gryzenia M, Skolnick C, Agarwal N, Swaroop A. Molecular characterization of the murine neural retina leucine zipper gene, Nrl. Genomics. 18: 216-22. PMID 8288222 DOI: 10.1006/Geno.1993.1458  0.451
1993 Bespalova IN, Farjo Q, Mortlock DP, Jackson AU, Meisler MH, Swaroop A, Burmeister M. Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 4: 618-20. PMID 8268663 DOI: 10.1007/Bf00361397  0.352
1992 Swaroop A, Xu J, Pawar H, Jackson A, Skolnick C, Agarwal N. A conserved retina-specific gene encodes a basic motif/leucine zipper domain Proceedings of the National Academy of Sciences of the United States of America. 89: 266-270. PMID 1729696 DOI: 10.1073/Pnas.89.1.266  0.436
1992 Gieser L, Swaroop A. Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library Genomics. 13: 873-876. PMID 1639417 DOI: 10.1016/0888-7543(92)90173-P  0.416
1992 Yang-Feng TL, Swaroop A. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2 Genomics. 14: 491-492. PMID 1427865 DOI: 10.1016/S0888-7543(05)80248-4  0.4
1992 Tombran-Tink J, Rodriguez I, Pawar H, Swaroop A, Chader G. Neurotrophic activity and gene analysis of a pigment epithelium-derived factor (PEDF) Experimental Eye Research. 55: 59. DOI: 10.1016/0014-4835(92)90422-O  0.352
1991 Swaroop A, Xu JZ, Agarwal N, Weissman SM. A simple and efficient cDNA library subtraction procedure: isolation of human retina-specific cDNA clones. Nucleic Acids Research. 19: 1954. PMID 2030979 DOI: 10.1093/Nar/19.8.1954  0.493
1991 Swaroop A, Agarwal N, Gruen JR, Bick D, Weissman SM. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Research. 19: 4725-9. PMID 1716359 DOI: 10.1093/Nar/19.17.4725  0.486
1991 Agarwal N, Hsieh CL, Sills D, Swaroop M, Desai B, Francke U, Swaroop A. Sequence analysis, expression and chromosomal localization of a gene, isolated from a subtracted human retina cDNA library, that encodes an insulin-like growth factor binding protein (IGFBP2). Experimental Eye Research. 52: 549-61. PMID 1712312 DOI: 10.1016/0014-4835(91)90056-K  0.386
1991 Ton CCT, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, Royer-Pokora B, Collins F, Swaroop A, Strong LC, Saunders GF. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region Cell. 67: 1059-1074. PMID 1684738 DOI: 10.1016/0092-8674(91)90284-6  0.483
1990 Vasavada HA, Ganguly S, Chorney M, Mathur R, Shukla H, Swaroop A, Weissman SM. pSH4: a mammalian cDNA expression vector. Nucleic Acids Research. 18: 3668. PMID 2362830 DOI: 10.1093/Nar/18.12.3668  0.473
1990 Shukla H, Swaroop A, Srivastava R, Weissman SM. The mRNA of a human class I gene HLA G/HLA 6.0 exhibits a restricted pattern of expression. Nucleic Acids Research. 18: 2189. PMID 2336406 DOI: 10.1093/Nar/18.8.2189  0.474
1990 Hsieh CL, Swaroop A, Francke U. Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein Somatic Cell and Molecular Genetics. 16: 407-410. PMID 2120779 DOI: 10.1007/Bf01232469  0.302
1990 Francke U, Ochs HD, Darras BT, Swaroop A. Origin of mutations in two families with X-linked chronic granulomatous disease. Blood. 76: 602-606. DOI: 10.1182/Blood.V76.3.602.602  0.347
1988 Swaroop A, Weissman SM. Charon BS (+) and (-), versatile λ phage vectors for constructing directional cDNA libraries and their efficient transfer to plasmids Nucleic Acids Research. 16: 8739. PMID 2971160 DOI: 10.1093/Nar/16.17.8739  0.415
1988 Swaroop A, Hogan BLM, Francke U. Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: Sequence, expression, and localization of the gene to chromosome 5q31-q33 Genomics. 2: 37-47. PMID 2838412 DOI: 10.1016/0888-7543(88)90107-3  0.349
1987 Swaroop A, Swaroop M, Garen A. Sequence analysis of the complete cDNA and encoded polypeptide for the Glued gene of Drosophila melanogaster. Proceedings of the National Academy of Sciences of the United States of America. 84: 6501-5. PMID 2819881 DOI: 10.1073/Pnas.84.18.6501  0.334
1986 Swaroop A, Sun JW, Paco-Larson ML, Garen A. Molecular organization and expression of the genetic locus glued in Drosophila melanogaster. Molecular and Cellular Biology. 6: 833-41. PMID 3022132 DOI: 10.1128/Mcb.6.3.833  0.427
1985 Swaroop A, Paco-Larson ML, Garen A. Molecular genetics of a transposon-induced dominant mutation in the Drosophila locus Glued. Proceedings of the National Academy of Sciences of the United States of America. 82: 1751-5. PMID 2984667 DOI: 10.1073/Pnas.82.6.1751  0.334
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