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Radha Ayyagari

TitleAdjunct Professor
InstitutionUniversity of California San Diego
DepartmentPathology
Address9500 Gilman Drive #0946
La Jolla CA 92093
Phone858-534-0197
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    Collapse Research 
    Collapse Research Activities and Funding
    Molecular Basis of Hereditary Retinal Degenerations
    NIH/NEI R01EY021237Dec 1, 2010 - May 31, 2021
    Role: Principal Investigator
    Molecular Mechanisms Underlying Macular Degenerations
    NIH/NEI R01EY013198Jun 1, 2000 - May 31, 2013
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse 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.
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    1. Lee BW, Kumar VB, Biswas P, Ko AC, Alameddine RM, Granet DB, Ayyagari R, Kikkawa DO, Korn BS. Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology. Open Ophthalmol J. 2018; 12:41-52. PMID: 29760827.
      View in: PubMed
    2. 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. The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data. Ophthalmology. 2018 Jan 17. PMID: 29361356.
      View in: PubMed
    3. Schori C, Agbaga MP, Brush RS, Ayyagari R, Grimm C, Samardzija M. Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse. PLoS One. 2018; 13(1):e0190514. PMID: 29293603.
      View in: PubMed
    4. Biswas P, Naeem MA, Ali MH, Assir MZ, Khan SN, Riazuddin S, Hejtmancik JF, Riazuddin SA, Ayyagari R. 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. PMID: 29721947.
      View in: PubMed
    5. Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol. 2018; 1074:229-236. PMID: 29721948.
      View in: PubMed
    6. 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. A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet. 2017 Dec 01; 26(23):4741-4751. PMID: 28973684.
      View in: PubMed
    7. Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. 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 Oct 23; 8(10). PMID: 29065517.
      View in: PubMed
    8. 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. Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic Genet. 2018 Jan-Feb; 39(1):73-79. PMID: 28945494.
      View in: PubMed
    9. Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes (Basel). 2017 Aug 24; 8(9). PMID: 28837078.
      View in: PubMed
    10. Godisela KK, Reddy SS, Kumar CU, Saravanan N, Reddy PY, Jablonski MM, Ayyagari R, Reddy GB. Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome. Mol Vis. 2017; 23:263-274. PMID: 28465658.
      View in: PubMed
    11. 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. 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. PMID: 28418496.
      View in: PubMed
    12. 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. 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. PMID: 28130426.
      View in: PubMed
    13. Ramkumar HL, Gudiseva HV, Kishaba KT, Suk JJ, Verma R, Tadimeti K, Thorson JA, Ayyagari R. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. Genet Test Mol Biomarkers. 2017 Feb; 21(2):66-73. PMID: 28005406.
      View in: PubMed
    14. Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. Retina. 2016 Dec; 36(12):2348-2356. PMID: 27388725.
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    15. Ullah I, Kabir F, Gottsch CB, Naeem MA, Guru AA, Ayyagari R, Khan SN, Riazuddin S, Akram J, Riazuddin SA. Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. Hum Genome Var. 2016; 3:16036. PMID: 27917291.
      View in: PubMed
    16. 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. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiol Genomics. 2016 Dec 01; 48(12):922-927. PMID: 27764769.
      View in: PubMed
    17. Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Mol Vis. 2016; 22:797-815. PMID: 27440997; PMCID: PMC4947966.
    18. Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. Mol Vis. 2016; 22:610-25. PMID: 27307693; PMCID: PMC4901054.
    19. 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. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016 06 15; 25(12):2483-2497. PMID: 27106100.
      View in: PubMed
    20. Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. Mol Vis. 2015; 21:1261-71. PMID: 26628857; PMCID: PMC4636350.
    21. 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. Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. PLoS One. 2015; 10(9):e0136561. PMID: 26352687; PMCID: PMC4564165.
    22. Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Mol Vis. 2015; 21:871-82. PMID: 26321862; PMCID: PMC4539017.
    23. Sahu B, Chavali VR, Alapati A, Suk J, Bartsch DU, Jablonski MM, Ayyagari R. Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model. Mol Vis. 2015; 21:273-84. PMID: 25814825; PMCID: PMC4360165.
    24. Girkin CA, Nievergelt CM, Kuo JZ, Maihofer AX, Huisingh C, Liebmann JM, Ayyagari R, Weinreb RN, Ritch R, Zangwill LM. 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. PMID: 25744975; PMCID: PMC4373542.
    25. Ali S, Khan SY, Naeem MA, Khan SN, Husnain T, Riazuddin S, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Phenotypic variability associated with the D226N allele of IMPDH1. Ophthalmology. 2015 Feb; 122(2):429-31. PMID: 25439607.
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    26. 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. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. PMID: 25082829; PMCID: PMC4245042.
    27. Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R. 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. PMID: 25082885; PMCID: PMC4152151.
    28. 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. Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration. Ophthalmic Genet. 2016; 37(1):44-52. PMID: 25007332; PMCID: PMC4289132.
    29. Mandal NA, Tran JT, Zheng L, Wilkerson JL, Brush RS, McRae J, Agbaga MP, Zhang K, Petrukhin K, Ayyagari R, Anderson RE. 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. PMID: 24644051; PMCID: PMC4001787.
    30. 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. A degenerative retinal process in HIV-associated non-infectious retinopathy. PLoS One. 2013; 8(9):e74712. PMID: 24069333.
      View in: PubMed
    31. Roberts DK, Ayyagari R, McCarthy B, Xie H, Davis F, Wilensky JT. Investigating ocular dimensions in African Americans with long anterior zonules. J Glaucoma. 2013 Jun-Jul; 22(5):393-7. PMID: 23722729; PMCID: PMC3669522.
    32. Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012; 7(11):e50205. PMID: 23189188; PMCID: PMC3506607.
    33. Tiruvalluru M, Ananthathmakula P, Ayyalasomayajula V, Nappanveettil G, Ayyagari R, Reddy GB. Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats. Nutrition. 2013 Jan; 29(1):298-304. PMID: 23036575.
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    34. Duncan JL, Roorda A, Navani M, Vishweswaraiah S, Syed R, Soudry S, Ratnam K, Gudiseva HV, Lee P, Gaasterland T, Ayyagari R. Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. Arch Ophthalmol. 2012 Oct; 130(10):1301-8. PMID: 23044944; PMCID: PMC3799916.
    35. 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. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012 Jul 03; 53(8):4458-67. PMID: 22661473; PMCID: PMC3394687.
    36. Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012 Mar; 53(3):1353-61. PMID: 22190596; PMCID: PMC3339909.
    37. Sommer JR, Chavali VR, Simpson SG, Ayyagari R, Petters RM. Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene. Mol Vis. 2012; 18:92-102. PMID: 22275800; PMCID: PMC3265177.
    38. Chavali VR, Vasireddy V, Ayyagari R. Silencing the expression of CTRP5/C1QTNF5 and ELOVL4 genes by small interfering RNA. Adv Exp Med Biol. 2012; 723:225-33. PMID: 22183337.
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    39. Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci. 2011 Nov 25; 52(12):9053-60. PMID: 22025579; PMCID: PMC3231844.
    40. Macdonald IM, Naash MI, Ayyagari R. Retinal degenerations: genetics, mechanisms, and therapies. J Ophthalmol. 2011; 2011:764873. PMID: 22132314; PMCID: PMC3216361.
    41. Satyanarayana A, Balakrishna N, Pitla S, Reddy PY, Mudili S, Lopamudra P, Suryanarayana P, Viswanath K, Ayyagari R, Reddy GB. Status of B-vitamins and homocysteine in diabetic retinopathy: association with vitamin-B12 deficiency and hyperhomocysteinemia. PLoS One. 2011; 6(11):e26747. PMID: 22069468; PMCID: PMC3206053.
    42. MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R. Phenotype and genotype of patients with autosomal recessive bestrophinopathy. Ophthalmic Genet. 2012 Sep; 33(3):123-9. PMID: 21809908.
      View in: PubMed
    43. Vasireddy V, Chavali VR, Joseph VT, Kadam R, Lin JH, Jamison JA, Kompella UB, Reddy GB, Ayyagari R. Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation. PLoS One. 2011; 6(6):e21193. PMID: 21738619; PMCID: PMC3126808.
    44. Chen Y, Ratnam K, Sundquist SM, Lujan B, Ayyagari R, Gudiseva VH, Roorda A, Duncan JL. Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2011 May 17; 52(6):3281-92. PMID: 21296825; PMCID: PMC3109028.
    45. Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Hum Mol Genet. 2011 May 15; 20(10):2000-14. PMID: 21349921; PMCID: PMC3080610.
    46. 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. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct 08; 87(4):523-31. PMID: 20850105; PMCID: PMC2948789.
    47. Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Sep 10; 87(3):400-9. PMID: 20797688; PMCID: PMC2933346.
    48. Chavali VR, Sommer JR, Petters RM, Ayyagari R. 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. PMID: 20554618; PMCID: PMC3061496.
    49. Vasireddy V, Wong P, Ayyagari R. Genetics and molecular pathology of Stargardt-like macular degeneration. Prog Retin Eye Res. 2010 May; 29(3):191-207. PMID: 20096366; PMCID: PMC3059896.
    50. 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. 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. PMID: 20081859; PMCID: PMC2884967.
    51. Ahmad OR, Ayyagari R, Zacks DN. A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy. Retin Cases Brief Rep. 2010; 4(1):84-5. PMID: 25390130.
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    52. Vasireddy V, Jablonski MM, Khan NW, Wang XF, Sahu P, Sparrow JR, Ayyagari R. 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. PMID: 19682985; PMCID: PMC2783393.
    53. Reddy GB, Vasireddy V, Mandal MN, Tiruvalluru M, Wang XF, Jablonski MM, Nappanveettil G, Ayyagari R. A novel rat model with obesity-associated retinal degeneration. Invest Ophthalmol Vis Sci. 2009 Jul; 50(7):3456-63. PMID: 19369235.
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    54. 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. 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. PMID: 18805803; PMCID: PMC2638579.
    55. Roberts DK, Ayyagari R, Moroi SE. Possible association between long anterior lens zonules and plateau iris configuration. J Glaucoma. 2008 Aug; 17(5):393-6. PMID: 18703950.
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    56. Reddy GB, Satyanarayana A, Balakrishna N, Ayyagari R, Padma M, Viswanath K, Petrash JM. Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. Mol Vis. 2008 Mar 24; 14:593-601. PMID: 18385795; PMCID: PMC2275210.
    57. Vasireddy V, Sharon M, Salem N, Ayyagari R. Role of ELOVL4 in fatty acid metabolism. Adv Exp Med Biol. 2008; 613:283-90. PMID: 18188956.
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    58. Yzer S, van den Born LI, Zonneveld MN, Lopez I, Ayyagari R, Teye-Botchway L, Mota-Vieira L, Cremers FP, Koenekoop RK. Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Mol Vis. 2007 Aug 31; 13:1568-72. PMID: 17893657.
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    59. Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol. 2007 Feb; 125(2):252-8. PMID: 17296903.
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    60. 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. 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. PMID: 17208947; PMCID: PMC1839956.
    61. Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R. 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. PMID: 17122142.
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    62. Mandal MN, Vasireddy V, Jablonski MM, Wang X, Heckenlively JR, Hughes BA, Reddy GB, Ayyagari R. Spatial and temporal expression of MFRP and its interaction with CTRP5. Invest Ophthalmol Vis Sci. 2006 Dec; 47(12):5514-21. PMID: 17122143.
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    63. Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N, Sieving PA, Ayyagari R. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2006 Oct; 47(10):4558-68. PMID: 17003453.
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    64. Mandal MN, Ayyagari R. Complement factor H: spatial and temporal expression and localization in the eye. Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):4091-7. PMID: 16936129.
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    65. Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N, Petrukhin K, Sieving PA. Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Invest Ophthalmol Vis Sci. 2006 Aug; 47(8):3603-11. PMID: 16877435; PMCID: PMC1761696.
    66. Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS. An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Res. 2006 Oct; 46(22):3845-52. PMID: 16884758.
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    67. Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet. 2005 Dec; 118(3-4):356-65. PMID: 16189710.
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    68. 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. 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. PMID: 16252232; PMCID: PMC1271382.
    69. Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3355-62. PMID: 16123440.
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    70. Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep; 46(9):3363-71. PMID: 16123441.
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    71. Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol Vis. 2005 Aug 30; 11:665-76. PMID: 16163264.
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    72. 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. 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. PMID: 15671300.
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    73. Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 2004 Apr; 83(4):615-25. PMID: 15028284.
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    74. Mandal MN, Ambasudhan R, Wong PW, Gage PJ, Sieving PA, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics. 2004 Apr; 83(4):626-35. PMID: 15028285.
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    75. Khani SC, Karoukis AJ, Young JE, Ambasudhan R, Burch T, Stockton R, Lewis RA, Sullivan LS, Daiger SP, Reichel E, Ayyagari R. 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. PMID: 12882809; PMCID: PMC2581458.
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    77. Umeda S, Ayyagari R, Suzuki MT, Ono F, Iwata F, Fujiki K, Kanai A, Takada Y, Yoshikawa Y, Tanaka Y, Iwata T. Molecular cloning of ELOVL4 gene from cynomolgus monkey (Macaca fascicularis). Exp Anim. 2003 Apr; 52(2):129-35. PMID: 12806887.
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    78. Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2003 Feb 18; 9:49-51. PMID: 12592226.
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    79. Lagali PS, Ayyagari R, Wong PW. An integrated genetic approach to identify candidate genes for human chromosome 6q-linked retinal disorders. Adv Exp Med Biol. 2003; 533:19-28. PMID: 15180243.
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    80. Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 Aug; 80(2):166-71. PMID: 12160730.
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