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Radha Ayyagari

Title(s)Professor In Residence, Ophthalmology
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
    Collapse research activities and funding
    Unraveling the molecular pathology of retinal degeneration through single cell genomics
    NIH R01EY031663Jun 1, 2021 - May 31, 2026
    Role: Principal Investigator
    Molecular mechanism underlying late-onset retinal/macular degeneration
    NIH R01EY030591Sep 1, 2020 - Jun 30, 2024
    Role: Principal Investigator
    Molecular Basis of Hereditary Retinal Degenerations
    NIH R01EY021237Sep 1, 2011 - May 31, 2021
    Role: Principal Investigator
    Molecular Mechanisms Underlying Macular Degenerations
    NIH R01EY013198Jun 1, 2000 - May 31, 2013
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina. bioRxiv. 2025 Apr 02. Yuan Y, Biswas P, Zemke NR, Dang K, Wu Y, D'Antonio M, Xie Y, Yang Q, Dong K, Lau PK, Li D, Seng C, Bartosik W, Buchanan J, Lin L, Lancione R, Wang K, Lee S, Gibbs Z, Ecker J, Frazer K, Wang T, Preissl S, Wang A, Ayyagari R, Ren B. PMID: 39764062; PMCID: PMC11703273.
      View in: PubMed   Mentions:
    2. Ablation of Htra1 leads to sub-RPE deposits and photoreceptor abnormalities. JCI Insight. 2025 Feb 10; 10(3). Biswas P, Woodard DR, Hollingsworth TJ, Khan NW, Lazaro DR, Berry AM, Dagar M, Pan Y, Garland D, Shaw PX, Oka C, Iwata T, Jablonski MM, Ayyagari R. PMID: 39927462; PMCID: PMC11948579.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    3. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv. 2025 Jan 06. Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Oldak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S. PMID: 39830270; PMCID: PMC11741465.
      View in: PubMed   Mentions:
    4. MFRP in Early Onset Retinal Degeneration: Clinical and Molecular Perspectives. Adv Exp Med Biol. 2025; 1468:75-79. Woodard DR, Ayyagari R. PMID: 39930176.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    5. Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants. PLoS One. 2024; 19(10):e0307266. Biswas P, Villanueva A, Krajacich BJ, Moreno J, Zhao J, Berry AM, Lazaro D, Lajoie BR, Kruglyak S, Ayyagari R. PMID: 39365799; PMCID: PMC11457586.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    6. Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report. Transl Vis Sci Technol. 2024 10 01; 13(10):16. Ayyagari R, Borooah S, Durham T, Gelfman C, Bowman A. PMID: 39382871; PMCID: PMC11469193.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    7. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. Am J Hum Genet. 2024 Sep 05; 111(9):2012-2030. Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. PMID: 39191256; PMCID: PMC11393691.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024 01 18; 187(2):464-480.e10. Verma SS, Gudiseva HV, Chavali VRM, Salowe RJ, Bradford Y, Guare L, Lucas A, Collins DW, Vrathasha V, Nair RM, Rathi S, Zhao B, He J, Lee R, Zenebe-Gete S, Bowman AS, McHugh CP, Zody MC, Pistilli M, Khachatryan N, Daniel E, Murphy W, Henderer J, Regeneron Genetics Center, Kinzy TG, Iyengar SK, Peachey NS, VA Million Veteran Program, Taylor KD, Guo X, Chen YI, Zangwill L, Girkin C, Ayyagari R, Liebmann J, Chuka-Okosa CM, Williams SE, Akafo S, Budenz DL, Olawoye OO, Ramsay M, Ashaye A, Akpa OM, Aung T, Wiggs JL, Ross AG, Cui QN, Addis V, Lehman A, Miller-Ellis E, Sankar PS, Williams SM, Ying GS, Cooke Bailey J, Rotter JI, Weinreb R, Khor CC, Hauser MA, Ritchie MD, O'Brien JM. PMID: 38242088; PMCID: PMC11844349.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    9. Mouse Choroid Proteome Revisited: Focus on Aging. Adv Exp Med Biol. 2023; 1415:359-363. Garland D, Harnly J, Ayyagari R. PMID: 37440057.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    10. A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5. Adv Exp Med Biol. 2023; 1415:335-340. Borooah S, Chekuri A, Pachauri S, Sahu B, Vorochikhina M, Suk JJ, Bartsch DU, Chavali VRM, Jablonski MM, Ayyagari R. PMID: 37440053.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    11. Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration. Sci Rep. 2022 Sep 10; 12(1):15273. Kumari A, Ayala-Ramirez R, Zenteno JC, Huffman K, Sasik R, Ayyagari R, Borooah S. PMID: 36088481; PMCID: PMC9464204.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    12. A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype. Genes (Basel). 2022 08 17; 13(8). Biswas P, Berry AM, Zawaydeh Q, Bartsch DG, Raghavendra PB, Hejtmancik JF, Khan NW, Riazuddin SA, Ayyagari R. PMID: 36011372; PMCID: PMC9408336.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    13. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848. Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. PMID: 34662339; PMCID: PMC8589175.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    14. Reticular Pseudodrusen in Late-Onset Retinal Degeneration. Ophthalmol Retina. 2021 10; 5(10):1043-1051. Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC. PMID: 33352318; PMCID: PMC8217414.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    15. Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model. Hum Mutat. 2021 02; 42(2):189-199. Biswas P, Borooah S, Matsui H, Voronchikhina M, Zhou J, Zawaydeh Q, Raghavendra PB, Ferreyra H, Riazuddin SA, Wahlin K, Frazer KA, Ayyagari R. PMID: 33252167; PMCID: PMC7878419.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    16. Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice. Sci Rep. 2020 11 04; 10(1):19013. Baxter SL, Keenan WT, Athanas AJ, Proudfoot JA, Zangwill LM, Ayyagari R, Liebmann JM, Girkin CA, Patapoutian A, Weinreb RN. PMID: 33149214; PMCID: PMC7643131.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    17. Whole genome sequencing data of multiple individuals of Pakistani descent. Sci Data. 2020 10 13; 7(1):350. Khan SY, Ali M, Lee MW, Ma Z, Biswas P, Khan AA, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 33051442; PMCID: PMC7555865.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    18. Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families. Hum Genome Var. 2020; 7:14. Nadeem R, Kabir F, Li J, Gradstein L, Jiao X, Rauf B, Naeem MA, Assir MZ, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 32411380; PMCID: PMC7217820.
      View in: PubMed   Mentions: 4  
    19. Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma. Mol Vis. 2020; 26:14-25. Rauf B, Irum B, Khan SY, Kabir F, Naeem MA, Riazuddin S, Ayyagari R, Riazuddin SA. PMID: 32165823; PMCID: PMC7043638.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    20. Role of sorbitol-mediated cellular stress response in obesity-associated retinal degeneration. Arch Biochem Biophys. 2020 01 15; 679:108207. Godisela KK, Reddy SS, Reddy PY, Kumar CU, Reddy VS, Ayyagari R, Reddy GB. PMID: 31760123.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    21. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA. 2019 11 05; 322(17):1682-1691. Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmichael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, Khor CC. PMID: 31688885; PMCID: PMC6865235.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    22. Association of severity of primary open-angle glaucoma with serum vitamin D levels in patients of African descent. Mol Vis. 2019; 25:438-445. Ayyagari R, Chen YI, Zangwill LM, Holman M, Dirkes K, Hai Y, Arzumanyan Z, Slight R, Hammel N, Girkin CA, Liebmann JM, Feldman R, Dubiner H, Taylor KD, Rotter JI, Guo X, Weinreb RN, ADAGES III Genomics Study Group. PMID: 31523121; PMCID: PMC6707754.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    23. Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. Aging Cell. 2019 12; 18(6):e13011. Chekuri A, Zientara-Rytter K, Soto-Hermida A, Borooah S, Voronchikhina M, Biswas P, Kumar V, Goodsell D, Hayward C, Shaw P, Stanton C, Garland D, Subramani S, Ayyagari R. PMID: 31385385; PMCID: PMC6826137.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimals
    24. Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci. Stem Cell Reports. 2019 06 11; 12(6):1342-1353. Smith EN, D'Antonio-Chronowska A, Greenwald WW, Borja V, Aguiar LR, Pogue R, Matsui H, Benaglio P, Borooah S, D'Antonio M, Ayyagari R, Frazer KA. PMID: 31080113; PMCID: PMC6565613.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    25. Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy. Hum Gene Ther. 2019 05; 30(5):632-650. Chekuri A, Sahu B, Chavali VRM, Voronchikhina M, Soto-Hermida A, Suk JJ, Alapati AN, Bartsch DU, Ayala-Ramirez R, Zenteno JC, Dinculescu A, Jablonski MM, Borooah S, Ayyagari R. PMID: 30499344; PMCID: PMC6534092.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    26. Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III. Ophthalmology. 2019 01; 126(1):38-48. Taylor KD, Guo X, Zangwill LM, Liebmann JM, Girkin CA, Feldman RM, Dubiner H, Hai Y, Samuels BC, Panarelli JF, Mitchell JP, Al-Aswad LA, Park SC, Tello C, Cotliar J, Bansal R, Sidoti PA, Cioffi GA, Blumberg D, Ritch R, Bell NP, Blieden LS, Davis G, Medeiros FA, Das SK, Divers J, Langefeld CD, Palmer ND, Freedman BI, Bowden DW, Ng MCY, Ida Chen YD, Ayyagari R, Rotter JI, Weinreb RN, African Descent and Glaucoma Evaluation Study III Genomics Study Group. PMID: 30352225; PMCID: PMC6309605.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    27. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 08; 14(8):e1007504. Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. PMID: 30157172; PMCID: PMC6133373.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    28. IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Hum Genet. 2018 Jul; 137(6-7):447-458. Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. PMID: 29978320; PMCID: PMC6150774.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    29. Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology. Open Ophthalmol J. 2018; 12:41-52. Lee BW, Kumar VB, Biswas P, Ko AC, Alameddine RM, Granet DB, Ayyagari R, Kikkawa DO, Korn BS. PMID: 29760827; PMCID: PMC5906971.
      View in: PubMed   Mentions: 11  
    30. The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data. Ophthalmology. 2019 01; 126(1):156-170. Zangwill LM, Ayyagari R, Liebmann JM, Girkin CA, Feldman R, Dubiner H, Dirkes KA, Holmann M, Williams-Steppe E, Hammel N, Saunders LJ, Vega S, Sandow K, Roll K, Slight R, Auerbach D, Samuels BC, Panarelli JF, Mitchell JP, Al-Aswad LA, Park SC, Tello C, Cotliar J, Bansal R, Sidoti PA, Cioffi GA, Blumberg D, Ritch R, Bell NP, Blieden LS, Davis G, Medeiros FA, Ng MCY, Das SK, Palmer ND, Divers J, Langefeld CD, Freedman BI, Bowden DW, Christopher MA, Chen YI, Guo X, Taylor KD, Rotter JI, Weinreb RN, African Descent and Glaucoma Evaluation Study III Genomics Study Group. PMID: 29361356; PMCID: PMC6050158.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    31. Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. PLoS One. 2018; 13(1):e0190514. Schori C, Agbaga MP, Brush RS, Ayyagari R, Grimm C, Samardzija M. PMID: 29293603; PMCID: PMC5749830.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    32. Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. Adv Exp Med Biol. 2018; 1074:219-228. Biswas P, Naeem MA, Ali MH, Assir MZ, Khan SN, Riazuddin S, Hejtmancik JF, Riazuddin SA, Ayyagari R. PMID: 29721947; PMCID: PMC12123434.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    33. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol. 2018; 1074:229-236. Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. PMID: 29721948.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    34. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet. 2017 12 01; 26(23):4741-4751. Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. PMID: 28973684; PMCID: PMC6075558.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    35. Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210. Genes (Basel). 2017 10 23; 8(10). Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. PMID: 29065517; PMCID: PMC5664136.
      View in: PubMed   Mentions:    Fields:    
    36. Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic Genet. 2018 Jan-Feb; 39(1):73-79. Villanueva A, Biswas P, Kishaba K, Suk J, Tadimeti K, Raghavendra PB, Nadeau K, Lamontagne B, Busque L, Geoffroy S, Mongrain I, Asselin G, Provost S, Dubé MP, Nudleman E, Ayyagari R. PMID: 28945494; PMCID: PMC6143363.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    37. Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes (Basel). 2017 08 24; 8(9). Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. PMID: 28837078; PMCID: PMC5615344.
      View in: PubMed   Mentions: 13     Fields:    
    38. Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome. Mol Vis. 2017; 23:263-274. Godisela KK, Reddy SS, Kumar CU, Saravanan N, Reddy PY, Jablonski MM, Ayyagari R, Reddy GB. PMID: 28465658; PMCID: PMC5398884.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    39. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci. 2017 04 01; 58(4):2218-2238. Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. PMID: 28418496; PMCID: PMC5397137.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    40. Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. Physiol Genomics. 2017 Apr 01; 49(4):216-229. Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. PMID: 28130426; PMCID: PMC5407181.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    41. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. Genet Test Mol Biomarkers. 2017 Feb; 21(2):66-73. Ramkumar HL, Gudiseva HV, Kishaba KT, Suk JJ, Verma R, Tadimeti K, Thorson JA, Ayyagari R. PMID: 28005406; PMCID: PMC5327051.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    42. LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. Retina. 2016 Dec; 36(12):2348-2356. Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. PMID: 27388725; PMCID: PMC5115976.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    43. Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. Hum Genome Var. 2016; 3:16036. Ullah I, Kabir F, Gottsch CB, Naeem MA, Guru AA, Ayyagari R, Khan SN, Riazuddin S, Akram J, Riazuddin SA. PMID: 27917291; PMCID: PMC5112436.
      View in: PubMed   Mentions: 7  
    44. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016 12 01; 48(12):922-927. Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R. PMID: 27764769; PMCID: PMC5206392.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    45. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis. 2016; 22:797-815. Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 27440997; PMCID: PMC4947966.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    46. Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. Mol Vis. 2016; 22:610-25. Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 27307693; PMCID: PMC4901054.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    47. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016 06 15; 25(12):2483-2497. Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. PMID: 27106100; PMCID: PMC6086560.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    48. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. Mol Vis. 2015; 21:1261-71. Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 26628857; PMCID: PMC4636350.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    49. Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. PLoS One. 2015; 10(9):e0136561. Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R. PMID: 26352687; PMCID: PMC4564165.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    50. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Mol Vis. 2015; 21:871-82. Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. PMID: 26321862; PMCID: PMC4539017.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    51. Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model. Mol Vis. 2015; 21:273-84. Sahu B, Chavali VR, Alapati A, Suk J, Bartsch DU, Jablonski MM, Ayyagari R. PMID: 25814825; PMCID: PMC4360165.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    52. Biogeographic Ancestry in the African Descent and Glaucoma Evaluation Study (ADAGES): Association With Corneal and Optic Nerve Structure. Invest Ophthalmol Vis Sci. 2015 Mar 05; 56(3):2043-9. Girkin CA, Nievergelt CM, Kuo JZ, Maihofer AX, Huisingh C, Liebmann JM, Ayyagari R, Weinreb RN, Ritch R, Zangwill LM, ADAGES Study Group. PMID: 25744975; PMCID: PMC4373542.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    53. Phenotypic variability associated with the D226N allele of IMPDH1. Ophthalmology. 2015 Feb; 122(2):429-31. Ali S, Khan SY, Naeem MA, Khan SN, Husnain T, Riazuddin S, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. PMID: 25439607.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    54. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. PMID: 25082829; PMCID: PMC4245042.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    55. Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Invest Ophthalmol Vis Sci. 2014 Jul 31; 55(9):5510-21. Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R. PMID: 25082885; PMCID: PMC4152151.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    56. Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration. Ophthalmic Genet. 2016; 37(1):44-52. Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. PMID: 25007332; PMCID: PMC4289132.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    57. In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4. Invest Ophthalmol Vis Sci. 2014 Apr 25; 55(4):2705-13. Mandal NA, Tran JT, Zheng L, Wilkerson JL, Brush RS, McRae J, Agbaga MP, Zhang K, Petrukhin K, Ayyagari R, Anderson RE. PMID: 24644051; PMCID: PMC4001787.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    58. exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. Genomics. 2014 Feb-Mar; 103(2-3):169-76. Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R. PMID: 24603341; PMCID: PMC4146529.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCTClinical Trials
    59. A degenerative retinal process in HIV-associated non-infectious retinopathy. PLoS One. 2013; 8(9):e74712. Kozak I, Sasik R, Freeman WR, Sprague LJ, Gomez ML, Cheng L, El-Emam S, Mojana F, Bartsch DU, Bosten J, Ayyagari R, Hardiman G. PMID: 24069333; PMCID: PMC3775801.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    60. Investigating ocular dimensions in African Americans with long anterior zonules. J Glaucoma. 2013 Jun-Jul; 22(5):393-7. Roberts DK, Ayyagari R, McCarthy B, Xie H, Davis F, Wilensky JT. PMID: 23722729; PMCID: PMC3669522.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    61. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012; 7(11):e50205. Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. PMID: 23189188; PMCID: PMC3506607.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    62. Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats. Nutrition. 2013 Jan; 29(1):298-304. Tiruvalluru M, Ananthathmakula P, Ayyalasomayajula V, Nappanveettil G, Ayyagari R, Reddy GB. PMID: 23036575.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    63. Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. Arch Ophthalmol. 2012 Oct; 130(10):1301-8. Duncan JL, Roorda A, Navani M, Vishweswaraiah S, Syed R, Soudry S, Ratnam K, Gudiseva HV, Lee P, Gaasterland T, Ayyagari R. PMID: 23044944; PMCID: PMC3799916.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    64. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012 Jul 03; 53(8):4458-67. Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. PMID: 22661473; PMCID: PMC3394687.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    65. GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012 Mar; 53(3):1353-61. Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. PMID: 22190596; PMCID: PMC3339909.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansAnimalsCells
    66. Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene. Mol Vis. 2012; 18:92-102. Sommer JR, Chavali VR, Simpson SG, Ayyagari R, Petters RM. PMID: 22275800; PMCID: PMC3265177.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    67. Silencing the expression of CTRP5/C1QTNF5 and ELOVL4 genes by small interfering RNA. Adv Exp Med Biol. 2012; 723:225-33. Chavali VR, Vasireddy V, Ayyagari R. PMID: 22183337.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    68. High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci. 2011 Nov 25; 52(12):9053-60. Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. PMID: 22025579; PMCID: PMC3231844.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    69. Retinal degenerations: genetics, mechanisms, and therapies. J Ophthalmol. 2011; 2011:764873. Macdonald IM, Naash MI, Ayyagari R. PMID: 22132314; PMCID: PMC3216361.
      View in: PubMed   Mentions:
    70. Status of B-vitamins and homocysteine in diabetic retinopathy: association with vitamin-B12 deficiency and hyperhomocysteinemia. PLoS One. 2011; 6(11):e26747. Satyanarayana A, Balakrishna N, Pitla S, Reddy PY, Mudili S, Lopamudra P, Suryanarayana P, Viswanath K, Ayyagari R, Reddy GB. PMID: 22069468; PMCID: PMC3206053.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    71. Phenotype and genotype of patients with autosomal recessive bestrophinopathy. Ophthalmic Genet. 2012 Sep; 33(3):123-9. MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R. PMID: 21809908.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    72. Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation. PLoS One. 2011; 6(6):e21193. Vasireddy V, Chavali VR, Joseph VT, Kadam R, Lin JH, Jamison JA, Kompella UB, Reddy GB, Ayyagari R. PMID: 21738619; PMCID: PMC3126808.
      View in: PubMed   Mentions: 51     Fields:    Translation:AnimalsCells
    73. Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2011 May 17; 52(6):3281-92. Chen Y, Ratnam K, Sundquist SM, Lujan B, Ayyagari R, Gudiseva VH, Roorda A, Duncan JL. PMID: 21296825; PMCID: PMC3109028.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansCells
    74. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Hum Mol Genet. 2011 May 15; 20(10):2000-14. Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R. PMID: 21349921; PMCID: PMC3080610.
      View in: PubMed   Mentions: 43     Fields:    Translation:AnimalsCells
    75. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct 08; 87(4):523-31. Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. PMID: 20850105; PMCID: PMC2948789.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    76. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Sep 10; 87(3):400-9. Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. PMID: 20797688; PMCID: PMC2933346.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    77. Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration. Invest Ophthalmol Vis Sci. 2010 Nov; 51(11):5499-507. Chavali VR, Sommer JR, Petters RM, Ayyagari R. PMID: 20554618; PMCID: PMC3061496.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    78. Genetics and molecular pathology of Stargardt-like macular degeneration. Prog Retin Eye Res. 2010 May; 29(3):191-207. Vasireddy V, Wong P, Ayyagari R. PMID: 20096366; PMCID: PMC3059896.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    79. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet. 2010 Feb; 42(2):175-80. Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. PMID: 20081859; PMCID: PMC2884967.
      View in: PubMed   Mentions: 125     Fields:    Translation:HumansAnimalsCells
    80. A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy. Retin Cases Brief Rep. 2010; 4(1):84-5. Ahmad OR, Ayyagari R, Zacks DN. PMID: 25390130.
      View in: PubMed   Mentions: 3     Fields:    
    81. Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin. Exp Eye Res. 2009 Dec; 89(6):905-12. Vasireddy V, Jablonski MM, Khan NW, Wang XF, Sahu P, Sparrow JR, Ayyagari R. PMID: 19682985; PMCID: PMC2783393.
      View in: PubMed   Mentions: 32     Fields:    Translation:Animals
    82. A novel rat model with obesity-associated retinal degeneration. Invest Ophthalmol Vis Sci. 2009 Jul; 50(7):3456-63. Reddy GB, Vasireddy V, Mandal MN, Tiruvalluru M, Wang XF, Jablonski MM, Nappanveettil G, Ayyagari R. PMID: 19369235; PMCID: PMC8728689.
      View in: PubMed   Mentions: 15     Fields:    Translation:Animals
    83. Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Hum Mol Genet. 2008 Dec 15; 17(24):3929-41. Chang B, Mandal MN, Chavali VR, Hawes NL, Khan NW, Hurd RE, Smith RS, Davisson ML, Kopplin L, Klein BE, Klein R, Iyengar SK, Heckenlively JR, Ayyagari R. PMID: 18805803; PMCID: PMC2638579.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimals
    84. Possible association between long anterior lens zonules and plateau iris configuration. J Glaucoma. 2008 Aug; 17(5):393-6. Roberts DK, Ayyagari R, Moroi SE. PMID: 18703950.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    85. Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. Mol Vis. 2008 Mar 24; 14:593-601. Reddy GB, Satyanarayana A, Balakrishna N, Ayyagari R, Padma M, Viswanath K, Petrash JM. PMID: 18385795; PMCID: PMC2275210.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    86. Role of ELOVL4 in fatty acid metabolism. Adv Exp Med Biol. 2008; 613:283-90. Vasireddy V, Sharon M, Salem N, Ayyagari R. PMID: 18188956.
      View in: PubMed   Mentions: 6     Fields:    Translation:AnimalsCells
    87. Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Mol Vis. 2007 Aug 31; 13:1568-72. Yzer S, van den Born LI, Zonneveld MN, Lopez I, Ayyagari R, Teye-Botchway L, Mota-Vieira L, Cremers FP, Koenekoop RK. PMID: 17893657.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    88. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol. 2007 Feb; 125(2):252-8. Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. PMID: 17296903.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    89. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Mol Genet. 2007 Mar 01; 16(5):471-82. Vasireddy V, Uchida Y, Salem N, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A, Elias PM, Holleran WM, Ayyagari R. PMID: 17208947; PMCID: PMC1839956.
      View in: PubMed   Mentions: 115     Fields:    Translation:AnimalsCells
    90. CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci. 2006 Dec; 47(12):5505-13. Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R. PMID: 17122142.
      View in: PubMed   Mentions: 54     Fields:    Translation:AnimalsCells
    91. Spatial and temporal expression of MFRP and its interaction with CTRP5. Invest Ophthalmol Vis Sci. 2006 Dec; 47(12):5514-21. Mandal MN, Vasireddy V, Jablonski MM, Wang X, Heckenlively JR, Hughes BA, Reddy GB, Ayyagari R. PMID: 17122143.
      View in: PubMed   Mentions: 51     Fields:    Translation:AnimalsCells
    92. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2006 Oct; 47(10):4558-68. Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N, Sieving PA, Ayyagari R. PMID: 17003453.
      View in: PubMed   Mentions: 36     Fields:    Translation:AnimalsCells
    93. Complement factor H: spatial and temporal expression and localization in the eye. Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):4091-7. Mandal MN, Ayyagari R. PMID: 16936129.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansAnimalsCells
    94. Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Invest Ophthalmol Vis Sci. 2006 Aug; 47(8):3603-11. Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N, Petrukhin K, Sieving PA. PMID: 16877435; PMCID: PMC1761696.
      View in: PubMed   Mentions: 23     Fields:    Translation:Animals
    95. An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Res. 2006 Oct; 46(22):3845-52. Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS. PMID: 16884758.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    96. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet. 2005 Dec; 118(3-4):356-65. Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. PMID: 16189710.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    97. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005 Nov; 77(5):694-708. Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. PMID: 16252232; PMCID: PMC1271382.
      View in: PubMed   Mentions: 98     Fields:    Translation:Humans
    98. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3355-62. Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. PMID: 16123440.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    99. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3363-71. Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. PMID: 16123441.
      View in: PubMed   Mentions: 69     Fields:    Translation:HumansCells
    100. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol Vis. 2005 Aug 30; 11:665-76. Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R. PMID: 16163264.
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    101. Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci. Invest Ophthalmol Vis Sci. 2005 Feb; 46(2):683-91. Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T. PMID: 15671300.
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    102. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 2004 Apr; 83(4):615-25. Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R. PMID: 15028284.
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    104. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. Invest Ophthalmol Vis Sci. 2003 Aug; 44(8):3570-7. Khani SC, Karoukis AJ, Young JE, Ambasudhan R, Burch T, Stockton R, Lewis RA, Sullivan LS, Daiger SP, Reichel E, Ayyagari R. PMID: 12882809; PMCID: PMC2581458.
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