| Year |
Citation |
Score |
| 2024 |
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, ... ... Ayyagari R, et al. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. American Journal of Human Genetics. PMID 39191256 DOI: 10.1016/j.ajhg.2024.07.020 |
0.334 |
|
| 2023 |
Borooah S, Chekuri A, Pachauri S, Sahu B, Vorochikhina M, Suk JJ, Bartsch DU, Chavali VRM, Jablonski MM, Ayyagari R. A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5. Advances in Experimental Medicine and Biology. 1415: 335-340. PMID 37440053 DOI: 10.1007/978-3-031-27681-1_48 |
0.355 |
|
| 2022 |
Kumari A, Ayala-Ramirez R, Zenteno JC, Huffman K, Sasik R, Ayyagari R, Borooah S. Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration. Scientific Reports. 12: 15273. PMID 36088481 DOI: 10.1038/s41598-022-19351-w |
0.422 |
|
| 2022 |
Biswas P, Berry AM, Zawaydeh Q, Bartsch DG, Raghavendra PB, Hejtmancik JF, Khan NW, Riazuddin SA, Ayyagari R. A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 () Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype. Genes. 13. PMID 36011372 DOI: 10.3390/genes13081461 |
0.428 |
|
| 2021 |
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kumarov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, ... ... Ayyagari R, et al. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. Plos Genetics. 17: e1009848. PMID 34662339 DOI: 10.1371/journal.pgen.1009848 |
0.632 |
|
| 2020 |
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC. Reticular pseudodrusen in late-onset retinal degeneration. Ophthalmology. Retina. PMID 33352318 DOI: 10.1016/j.oret.2020.12.012 |
0.331 |
|
| 2020 |
Biswas P, Borooah S, Matsui H, Voronchikhina M, Zhou J, Raghavendra PB, Riazuddin SA, Wahlin K, Frazer KA, Ayyagari R. Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model. Human Mutation. PMID 33252167 DOI: 10.1002/humu.24146 |
0.497 |
|
| 2020 |
Baxter SL, Keenan WT, Athanas AJ, Proudfoot JA, Zangwill LM, Ayyagari R, Liebmann JM, Girkin CA, Patapoutian A, Weinreb RN. Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice. Scientific Reports. 10: 19013. PMID 33149214 DOI: 10.1038/s41598-020-76026-0 |
0.329 |
|
| 2020 |
Nadeem R, Kabir F, Li J, Gradstein L, Jiao X, Rauf B, Naeem MA, Assir MZ, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Mutations in and cause retinitis pigmentosa in Pakistani families. Human Genome Variation. 7: 14. PMID 32411380 DOI: 10.1038/s41439-020-0100-8 |
0.489 |
|
| 2020 |
Rauf B, Irum B, Khan SY, Kabir F, Naeem MA, Riazuddin S, Ayyagari R, Riazuddin SA. Novel mutations in identified in familial cases of primary congenital glaucoma. Molecular Vision. 26: 14-25. PMID 32165823 |
0.369 |
|
| 2019 |
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. Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. Aging Cell. e13011. PMID 31385385 DOI: 10.1111/Acel.13011 |
0.374 |
|
| 2019 |
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. Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci. Stem Cell Reports. PMID 31080113 DOI: 10.1016/j.stemcr.2019.04.012 |
0.344 |
|
| 2018 |
Chekuri A, Sahu B, Chavali VRM, Voronchikhina M, Hermida AS, Suk JJ, Alapati AN, Bartsch DU, Ayala-Ramirez R, Zenteno JC, Dinculescu A, Jablonski MM, Borooah S, Ayyagari R. The long-term effects of gene therapy in a novel mouse model of human MFRP-associated retinopathy. Human Gene Therapy. PMID 30499344 DOI: 10.1089/Hum.2018.192 |
0.467 |
|
| 2018 |
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, ... ... Ayyagari R, et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Plos Genetics. 14: e1007504. PMID 30157172 DOI: 10.1371/Journal.Pgen.1007504 |
0.612 |
|
| 2018 |
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, ... ... Ayyagari R, et al. IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Human Genetics. PMID 29978320 DOI: 10.1007/S00439-018-1897-9 |
0.651 |
|
| 2018 |
Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Advances in Experimental Medicine and Biology. 1074: 229-236. PMID 29721948 DOI: 10.1007/978-3-319-75402-4_28 |
0.633 |
|
| 2018 |
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. Advances in Experimental Medicine and Biology. 1074: 219-228. PMID 29721947 DOI: 10.1007/978-3-319-75402-4_27 |
0.448 |
|
| 2018 |
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. 13: e0190514. PMID 29293603 DOI: 10.1371/Journal.Pone.0190514 |
0.472 |
|
| 2017 |
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. 8. PMID 29065517 DOI: 10.3390/Genes8100286 |
0.397 |
|
| 2017 |
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. Human Molecular Genetics. PMID 28973684 DOI: 10.1093/Hmg/Ddx356 |
0.481 |
|
| 2017 |
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, et al. Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic Genetics. 1-7. PMID 28945494 DOI: 10.1080/13816810.2017.1373830 |
0.408 |
|
| 2017 |
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. 8. PMID 28837078 DOI: 10.3390/Genes8090210 |
0.533 |
|
| 2017 |
Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, ... ... Ayyagari R, et al. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Investigative Ophthalmology & Visual Science. 58: 2218-2238. PMID 28418496 DOI: 10.1167/Iovs.17-21424 |
0.621 |
|
| 2017 |
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk JJ, Parke M, Schlechter C, Weleber R, Heckenlively JR, Dagnelie G, ... ... Ayyagari R, et al. Genetic analysis of ten pedigrees with inherited retinal degeneration (IRD) by exome sequencing and phenotype-genotype association. Physiological Genomics. physiolgenomics.0009. PMID 28130426 DOI: 10.1152/Physiolgenomics.00096.2016 |
0.517 |
|
| 2017 |
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. Genetic Testing and Molecular Biomarkers. 21: 66-73. PMID 28005406 DOI: 10.1089/gtmb.2016.0251 |
0.307 |
|
| 2016 |
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. Human Genome Variation. 3: 16036. PMID 27917291 DOI: 10.1038/hgv.2016.36 |
0.496 |
|
| 2016 |
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Narai N, Heckenlively JR, Frazar KA, Sieving PA, Ayyagari R. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Physiological Genomics. physiolgenomics.0010. PMID 27764769 DOI: 10.1152/Physiolgenomics.00101.2016 |
0.659 |
|
| 2016 |
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. Molecular Vision. 22: 797-815. PMID 27440997 |
0.452 |
|
| 2016 |
Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA. LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. Retina (Philadelphia, Pa.). PMID 27388725 DOI: 10.1097/Iae.0000000000001113 |
0.539 |
|
| 2016 |
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. Molecular Vision. 22: 610-25. PMID 27307693 |
0.475 |
|
| 2016 |
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, ... ... Ayyagari R, et al. A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Human Molecular Genetics. PMID 27106100 DOI: 10.1093/Hmg/Ddw113 |
0.561 |
|
| 2015 |
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. Molecular Vision. 21: 1261-71. PMID 26628857 |
0.384 |
|
| 2015 |
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. 10: e0136561. PMID 26352687 DOI: 10.1371/journal.pone.0136561 |
0.427 |
|
| 2015 |
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. Molecular Vision. 21: 871-82. PMID 26321862 |
0.483 |
|
| 2015 |
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. Molecular Vision. 21: 273-84. PMID 25814825 |
0.484 |
|
| 2014 |
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. Investigative Ophthalmology & Visual Science. 55: 5510-21. PMID 25082885 DOI: 10.1167/iovs.14-14359 |
0.332 |
|
| 2014 |
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, et al. Analysis of the ABCA4 genomic locus in Stargardt disease. Human Molecular Genetics. 23: 6797-806. PMID 25082829 DOI: 10.1093/Hmg/Ddu396 |
0.37 |
|
| 2014 |
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 Genetics. 1-9. PMID 25007332 DOI: 10.3109/13816810.2014.929716 |
0.461 |
|
| 2014 |
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. Investigative Ophthalmology & Visual Science. 55: 2705-13. PMID 24644051 DOI: 10.1167/Iovs.13-13198 |
0.348 |
|
| 2012 |
Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. Plos One. 7: e50205. PMID 23189188 DOI: 10.1371/Journal.Pone.0050205 |
0.671 |
|
| 2012 |
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. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 1301-8. PMID 23044944 DOI: 10.1001/Archophthalmol.2012.1906 |
0.538 |
|
| 2012 |
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. Investigative Ophthalmology & Visual Science. 53: 4458-67. PMID 22661473 DOI: 10.1167/Iovs.11-9166 |
0.509 |
|
| 2012 |
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. Molecular Vision. 18: 92-102. PMID 22275800 |
0.357 |
|
| 2012 |
Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. GNAT1 associated with autosomal recessive congenital stationary night blindness. Investigative Ophthalmology & Visual Science. 53: 1353-61. PMID 22190596 DOI: 10.1167/Iovs.11-8026 |
0.583 |
|
| 2011 |
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. Investigative Ophthalmology & Visual Science. 52: 9053-60. PMID 22025579 DOI: 10.1167/iovs.11-7978 |
0.442 |
|
| 2011 |
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. 6: e21193. PMID 21738619 DOI: 10.1371/Journal.Pone.0021193 |
0.361 |
|
| 2011 |
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. Human Molecular Genetics. 20: 2000-14. PMID 21349921 DOI: 10.1093/Hmg/Ddr080 |
0.495 |
|
| 2011 |
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. Investigative Ophthalmology & Visual Science. 52: 3281-92. PMID 21296825 DOI: 10.1167/Iovs.10-6538 |
0.385 |
|
| 2010 |
Ahmad OR, Ayyagari R, Zacks DN. A novel missense mutation in the rds/peripherin gene associated with retinal pattern dystrophy. Retinal Cases & Brief Reports. 4: 84-5. PMID 25390130 DOI: 10.1097/ICB.0b013e318198d8f7 |
0.488 |
|
| 2010 |
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. American Journal of Human Genetics. 87: 523-31. PMID 20850105 DOI: 10.1016/J.Ajhg.2010.08.013 |
0.689 |
|
| 2010 |
Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics. 87: 400-9. PMID 20797688 DOI: 10.1016/J.Ajhg.2010.08.003 |
0.661 |
|
| 2010 |
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. Investigative Ophthalmology & Visual Science. 51: 5499-507. PMID 20554618 DOI: 10.1167/iovs.10-5543 |
0.324 |
|
| 2010 |
Vasireddy V, Wong P, Ayyagari R. Genetics and molecular pathology of Stargardt-like macular degeneration. Progress in Retinal and Eye Research. 29: 191-207. PMID 20096366 DOI: 10.1016/j.preteyeres.2010.01.001 |
0.493 |
|
| 2010 |
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, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/Ng.519 |
0.479 |
|
| 2009 |
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. Experimental Eye Research. 89: 905-12. PMID 19682985 DOI: 10.1016/J.Exer.2009.07.021 |
0.403 |
|
| 2008 |
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. Human Molecular Genetics. 17: 3929-41. PMID 18805803 DOI: 10.1093/Hmg/Ddn295 |
0.482 |
|
| 2007 |
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. Molecular Vision. 13: 1568-72. PMID 17893657 |
0.49 |
|
| 2007 |
Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 252-8. PMID 17296903 DOI: 10.1001/Archopht.125.2.252 |
0.539 |
|
| 2006 |
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. Investigative Ophthalmology & Visual Science. 47: 5514-21. PMID 17122143 DOI: 10.1167/Iovs.06-0449 |
0.437 |
|
| 2006 |
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. Investigative Ophthalmology & Visual Science. 47: 5505-13. PMID 17122142 DOI: 10.1167/Iovs.06-0312 |
0.375 |
|
| 2006 |
Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N, Sieving PA, Ayyagari R. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Investigative Ophthalmology & Visual Science. 47: 4558-68. PMID 17003453 DOI: 10.1167/Iovs.06-0353 |
0.532 |
|
| 2006 |
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 Research. 46: 3845-52. PMID 16884758 DOI: 10.1016/J.Visres.2006.06.011 |
0.448 |
|
| 2006 |
Raz-Prag D, Ayyagari R, Fariss RN, Mandal MN, Vasireddy V, Majchrzak S, Webber AL, Bush RA, Salem N, Petrukhin K, Sieving PA. Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease. Investigative Ophthalmology & Visual Science. 47: 3603-11. PMID 16877435 DOI: 10.1167/Iovs.05-1527 |
0.626 |
|
| 2005 |
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, ... ... Ayyagari R, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. American Journal of Human Genetics. 77: 694-708. PMID 16252232 DOI: 10.1086/497348 |
0.463 |
|
| 2005 |
Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Human Genetics. 118: 356-65. PMID 16189710 DOI: 10.1007/S00439-005-0054-4 |
0.635 |
|
| 2005 |
Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Molecular Vision. 11: 665-76. PMID 16163264 |
0.565 |
|
| 2005 |
Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Investigative Ophthalmology & Visual Science. 46: 3363-71. PMID 16123441 DOI: 10.1167/Iovs.05-0159 |
0.671 |
|
| 2005 |
Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Investigative Ophthalmology & Visual Science. 46: 3355-62. PMID 16123440 DOI: 10.1167/Iovs.05-0007 |
0.601 |
|
| 2005 |
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. Investigative Ophthalmology & Visual Science. 46: 683-91. PMID 15671300 DOI: 10.1167/iovs.04-1031 |
0.435 |
|
| 2004 |
Mandal MN, Ambasudhan R, Wong PW, Gage PJ, Sieving PA, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics. 83: 626-35. PMID 15028285 DOI: 10.1016/J.Ygeno.2003.09.020 |
0.54 |
|
| 2004 |
Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 83: 615-25. PMID 15028284 DOI: 10.1016/J.Ygeno.2003.10.004 |
0.572 |
|
| 2003 |
Lagali PS, Ayyagari R, Wong PW. An integrated genetic approach to identify candidate genes for human chromosome 6q-linked retinal disorders. Advances in Experimental Medicine and Biology. 533: 19-28. PMID 15180243 DOI: 10.1007/978-1-4615-0067-4_3 |
0.425 |
|
| 2003 |
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. Investigative Ophthalmology & Visual Science. 44: 3570-7. PMID 12882809 DOI: 10.1167/iovs.02-1287 |
0.493 |
|
| 2003 |
Lagali PS, Liu J, Ambasudhan R, Kakuk LE, Bernstein SL, Seigel GM, Wong PW, Ayyagari R. Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina. Investigative Ophthalmology & Visual Science. 44: 2841-50. PMID 12824221 DOI: 10.1167/Iovs.02-0991 |
0.407 |
|
| 2003 |
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). Experimental Animals / Japanese Association For Laboratory Animal Science. 52: 129-35. PMID 12806887 |
0.324 |
|
| 2003 |
Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Molecular Vision. 9: 49-51. PMID 12592226 |
0.673 |
|
| 2002 |
Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 80: 166-71. PMID 12160730 DOI: 10.1006/Geno.2002.6815 |
0.674 |
|
| 2002 |
Lagali PS, Kakuk LE, Griesinger IB, Wong PW, Ayyagari R. Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. Biochemical and Biophysical Research Communications. 293: 356-65. PMID 12054608 DOI: 10.1016/S0006-291X(02)00228-0 |
0.386 |
|
| 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 |
0.6 |
|
| 2001 |
Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, ... ... Ayyagari R, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics. 27: 89-93. PMID 11138005 DOI: 10.1038/83817 |
0.664 |
|
| 2000 |
Lagali PS, MacDonald IM, Griesinger IB, Chambers ML, Ayyagari R, Wong PW. Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 35: 315-24. PMID 11091913 DOI: 10.1016/S0008-4182(00)80059-9 |
0.382 |
|
| 2000 |
Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA. Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Human Genetics. 107: 75-82. PMID 10982039 DOI: 10.1007/S004390000338 |
0.628 |
|
| 2000 |
Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, Ehinger B, Sieving PA. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 1098-104. PMID 10922205 DOI: 10.1001/Archopht.118.8.1098 |
0.609 |
|
| 2000 |
Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Human Genetics. 106: 531-7. PMID 10914683 DOI: 10.1007/s004390000289 |
0.425 |
|
| 2000 |
Ayyagari R, Griesinger IB, Bingham E, Lark KK, Moroi SE, Sieving PA. Autosomal dominant hemorrhagic macular dystrophy not associated with the TIMP3 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 85-92. PMID 10636420 DOI: 10.1001/Archopht.118.1.85 |
0.591 |
|
| 1999 |
Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Human Mutation. 14: 423-7. PMID 10533068 DOI: 10.1002/(Sici)1098-1004(199911)14:5<423::Aid-Humu8>3.0.Co;2-D |
0.61 |
|
| 1999 |
Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 58: 98-101. PMID 10331951 DOI: 10.1006/Geno.1999.5808 |
0.637 |
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