Michael B Gorin

Title(s)Professor, Ophthalmology
SchoolMedicine
ORCID ORCID Icon0000-0001-9498-7982 Additional info
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    Title(s)Professor, Human Genetics


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    Michael B. Gorin, M.D., Ph.D., holds the Harold and Pauline Price Chair in Ophthalmology.

    Collapse Research 
    Collapse Research Activities and Funding
    Molecular Genetics of X-L Cone-Rod Dystrophy
    NIH R01EY013130Apr 1, 2001 - Mar 31, 2005
    Role: Principal Investigator
    Genetics of Age-Related Maculopathy
    NIH R01EY009859Sep 1, 1993 - Mar 31, 2014
    Role: Principal Investigator
    MOLECULAR GENETICS OF INHERITED RETINAL DISEASE
    NIH R01EY009192Aug 1, 1991 - Mar 31, 2000
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

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    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. 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. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 May 18; 33(11):945-957. Brock DC, Wang M, Hussain HMJ, Rauch DE, Marra M, Pennesi ME, Yang P, Everett L, Ajlan RS, Colbert J, Porto FBO, Matynia A, Gorin MB, Koenekoop RK, Lopez I, Sui R, Zou G, Li Y, Chen R. PMID: 38453143; PMCID: PMC11102593.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules. 2024 Mar 19; 14(3). Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavac D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Oldak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. PMID: 38540785; PMCID: PMC10967834.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease. Ophthalmology. 2024 May; 131(5):622-633. Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE. PMID: 38092079.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023 06 05; 32(12):2005-2015. Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. PMID: 36811936; PMCID: PMC10244226.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    5. Systematic assessment of the contribution of structural variants to inherited retinal diseases. bioRxiv. 2023 Jan 03. Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. PMID: 36789417; PMCID: PMC9928032.
      View in: PubMed   Mentions:
    6. Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration. Cells. 2022 11 02; 11(21). Ng ESY, Kady N, Hu J, Dave A, Jiang Z, Pei J, Gorin MB, Matynia A, Radu RA. PMID: 36359858; PMCID: PMC9655712.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    7. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain. 2022 09 14; 145(9):3308-3327. Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. PMID: 35851598; PMCID: PMC9473360.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    8. Systems genomics in age-related macular degeneration. Exp Eye Res. 2022 12; 225:109248. den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. PMID: 36108770; PMCID: PMC10150562.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    9. Measurement of the Inner Macular Layers for Monitoring of Glaucoma: Confounding Effects of Age-Related Macular Degeneration. Ophthalmol Glaucoma. 2023 Jan-Feb; 6(1):68-77. Chew L, Mohammadzadeh V, Mohammadi M, Toriz V, Rosa N, Gorin MB, Amini N, Nouri-Mahdavi K. PMID: 35750324; PMCID: PMC9937646.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022 03 02; 11(3):33. Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, Hu J, Strom SP, Radu RA, Chen R, Gorin MB. PMID: 35348597; PMCID: PMC8976924.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    11. OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS AND VISUAL PROGNOSIS IN TWO PATIENTS WITH POSTERIOR MICROPHTHALMOS. Retin Cases Brief Rep. 2022 Mar 01; 16(2):253-257. Pineles SL, Davila-Gonzalez JP, Gorin M, Lee H, Sarraf D, Velez FG. PMID: 31842044.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Genotype-Phenotype Analysis of Atrophic Age-Related Macular Degeneration: What Does It Mean When You Don't Find What You Were Expecting? Ophthalmol Retina. 2021 11; 5(11):1059-1060. Gorin M. PMID: 34752301.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genet. 2021 12; 42(6):664-673. Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME. PMID: 34223797; PMCID: PMC9233901.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    14. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27. da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. PMID: 34185059; PMCID: PMC8254011.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    15. Assessing the Clinical Utility of Expanded Macular OCTs Using Machine Learning. Transl Vis Sci Technol. 2021 05 03; 10(6):32. Lin AC, Lee CS, Blazes M, Lee AY, Gorin MB. PMID: 34038502; PMCID: PMC8161701.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    16. Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 "I"s That Are Necessary to Diagnose 2 Eyes Genetically. Ophthalmol Sci. 2021 Mar; 1(1):100018. Gorin MB, Ahn J. PMID: 36246004; PMCID: PMC9559090.
      View in: PubMed   Mentions:
    17. A CASE OF INTRARETINAL PERIPAPILLARY NEOVASCULARIZATION IN ABCA4-RELATED RETINOPATHY. Retin Cases Brief Rep. 2021 Jan 01; 15(1):5-9. Essilfie JO, Huynh A, Gorin MB, Sadda SR. PMID: 29470301.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    18. Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration. J Am Stat Assoc. 2021; 116(534):531-545. Jiang Y, Chiu CY, Yan Q, Chen W, Gorin MB, Conley YP, Lakhal-Chaieb ML, Cook RJ, Amos CI, Wilson AF, Bailey-Wilson JE, McMahon FJ, Vazquez AI, Yuan A, Zhong X, Xiong M, Weeks DE, Fan R. PMID: 34321704; PMCID: PMC8315575.
      View in: PubMed   Mentions: 5  
    19. Novel PET imaging methods for prostate cancer. World J Urol. 2021 Mar; 39(3):687-699. Mena E, Black PC, Rais-Bahrami S, Gorin M, Allaf M, Choyke P. PMID: 32671604; PMCID: PMC7854761.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    20. Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy. Ophthalmic Genet. 2020 08; 41(4):386-389. Ahn J, Chiang J, Gorin MB. PMID: 32594822.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    21. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020 06 04; 106(6):893-904. Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. PMID: 32386558; PMCID: PMC7273529.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    22. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 2020 07; 22(7):1235-1246. Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavac D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. PMID: 32307445.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansCells
    23. Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention. Exp Eye Res. 2020 02; 191:107894. Gorin MB, daSilva MJ. PMID: 31862397.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    24. Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema. Invest Ophthalmol Vis Sci. 2019 12 02; 60(15):5000-5006. Iovino C, Au A, Hilely A, Violanti S, Peiretti E, Gorin MB, Sarraf D. PMID: 31794599.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    25. Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. JAMA Ophthalmol. 2019 12 01; 137(12):1381-1388. Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A. PMID: 31580392; PMCID: PMC6777234.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    26. VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects. Retina. 2019 Dec; 39(12):2243-2253. Aronow ME, Wiley HE, Gaudric A, Krivosic V, Gorin MB, Shields CL, Shields JA, Jonasch EW, Singh AD, Chew EY. PMID: 31095066.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    27. MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE. Retina. 2019 Dec; 39(12):2254-2263. Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY. PMID: 31259811; PMCID: PMC6878154.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    28. Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. Exp Eye Res. 2019 12; 189:107852. Toms M, Dubis AM, Lim WS, Webster AR, Gorin MB, Moosajee M. PMID: 31647904; PMCID: PMC6899441.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    29. When Genetics Can Point Researchers and Clinicians in New Directions. JAMA Ophthalmol. 2019 Aug 01; 137(8):876-877. Gorin MB. PMID: 31120487.
      View in: PubMed   Mentions: 1     Fields:    
    30. A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration. Nat Commun. 2019 07 26; 10(1):3347. Handa JT, Bowes Rickman C, Dick AD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. PMID: 31350409; PMCID: PMC6659646.
      View in: PubMed   Mentions: 118     Fields:    Translation:HumansAnimals
    31. Macular spatial distribution of preserved autofluorescence in patients with choroideremia. Br J Ophthalmol. 2019 07; 103(7):933-937. Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S, For Natural History of the Progression of Choroideremia (NIGHT) Study Group. PMID: 30297337; PMCID: PMC6533159.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    32. Three patients with injection of intravitreal vascular endothelial growth factor inhibitors and subsequent exacerbation of chronic proteinuria and hypertension. Clin Kidney J. 2019 Feb; 12(1):92-100. Hanna RM, Lopez EA, Hasnain H, Selamet U, Wilson J, Youssef PN, Akladeous N, Bunnapradist S, Gorin MB. PMID: 30746134; PMCID: PMC6366143.
      View in: PubMed   Mentions: 33  
    33. Ultra-Widefield Fundus Autofluorescence Imaging of Patients with Retinitis Pigmentosa: A Standardized Grading System in Different Genotypes. Ophthalmol Retina. 2018 07; 2(7):735-745. Hariri AH, Gui W, Datoo O'Keefe GA, Ip MS, Sadda SR, Gorin MB. PMID: 31047384.
      View in: PubMed   Mentions: 10     Fields:    
    34. Human Embryonic Stem Cell-Derived Mesenchymal Stromal Cells Decrease the Development of Severe Experimental Autoimmune Uveitis in B10.RIII Mice. Ocul Immunol Inflamm. 2018; 26(8):1228-1236. Qin Y, Chan AM, Chang YL, Matynia A, Kouris NA, Kimbrel EA, Ashki N, Parikh S, Gorin MB, Lanza R, Levinson RD, Gordon LK. PMID: 28914568.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    35. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia. Am J Ophthalmol. 2017 Jul; 179:110-117. Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR, Natural History of the Progression of Choroideremia (NIGHT) Study Group. PMID: 28499705.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    36. Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis. Am J Ophthalmol Case Rep. 2017 Sep; 7:14-19. Tu JH, Foote KG, Lujan BJ, Ratnam K, Qin J, Gorin MB, Cunningham ET, Tuten WS, Duncan JL, Roorda A. PMID: 29057371; PMCID: PMC5644392.
      View in: PubMed   Mentions: 23  
    37. Genetic risk models: Influence of model size on risk estimates and precision. Genet Epidemiol. 2017 05; 41(4):282-296. Shan Y, Tromp G, Kuivaniemi H, Smelser DT, Verma SS, Ritchie MD, Elmore JR, Carey DJ, Conley YP, Gorin MB, Weeks DE. PMID: 28198095; PMCID: PMC5628612.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    38. Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. Eur J Hum Genet. 2017 04; 25(4):461-471. Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF. PMID: 28051075; PMCID: PMC5386409.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    39. An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach. J Vis Exp. 2016 12 07; (118). Parikh S, Le A, Davenport J, Gorin MB, Nusinowitz S, Matynia A. PMID: 28060316; PMCID: PMC5226358.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimals
    40. Peripheral Sensory Neurons Expressing Melanopsin Respond to Light. Front Neural Circuits. 2016; 10:60. Matynia A, Nguyen E, Sun X, Blixt FW, Parikh S, Kessler J, Pérez de Sevilla Müller L, Habib S, Kim P, Wang ZZ, Rodriguez A, Charles A, Nusinowitz S, Edvinsson L, Barnes S, Brecha NC, Gorin MB. PMID: 27559310; PMCID: PMC4978714.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    41. De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. PLoS One. 2016; 11(3):e0150944. Strom SP, Clark MJ, Martinez A, Garcia S, Abelazeem AA, Matynia A, Parikh S, Sullivan LS, Bowne SJ, Daiger SP, Gorin MB. PMID: 26964041; PMCID: PMC4786330.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCTClinical Trials
    42. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016 Feb; 48(2):134-43. Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM. PMID: 26691988; PMCID: PMC4745342.
      View in: PubMed   Mentions: 736     Fields:    Translation:Humans
    43. Assessing Deep Retinal Capillary Ischemia in Paracentral Acute Middle Maculopathy by Optical Coherence Tomography Angiography. Am J Ophthalmol. 2016 Feb; 162:121-132.e1. Nemiroff J, Kuehlewein L, Rahimy E, Tsui I, Doshi R, Gaudric A, Gorin MB, Sadda S, Sarraf D. PMID: 26562176.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    44. Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults. J Gerontol A Biol Sci Med Sci. 2015 Nov; 70(11):1418-24. Tranah GJ, Yaffe K, Katzman SM, Lam ET, Pawlikowska L, Kwok PY, Schork NJ, Manini TM, Kritchevsky S, Thomas F, Newman AB, Harris TB, Coleman AL, Gorin MB, Helzner EP, Rowbotham MC, Browner WS, Cummings SR, Health, Aging and Body Composition Study. PMID: 26328603; PMCID: PMC4612388.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    45. Genetic ME-a visualization application for merging and editing pedigrees for genetic studies. BMC Res Notes. 2015 Jun 16; 8:241. Bui DK, Jiang Y, Wei X, Ortube MC, Weeks DE, Conley YP, Gorin MB. PMID: 26076732; PMCID: PMC4478623.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    46. Light aversion and corneal mechanical sensitivity are altered by intrinscally photosensitive retinal ganglion cells in a mouse model of corneal surface damage. Exp Eye Res. 2015 Aug; 137:57-62. Matynia A, Parikh S, Deot N, Wong A, Kim P, Nusinowitz S, Gorin MB. PMID: 26070985.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    47. dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets. BMC Bioinformatics. 2015 Mar 18; 16:91. Baron RV, Conley YP, Gorin MB, Weeks DE. PMID: 25887129; PMCID: PMC4407391.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    48. HLA class II genotypes are not associated with age related macular degeneration in a case-control, population-based study. Hum Immunol. 2015 Mar; 76(2-3):142-5. Pappas D, Hollenbach J, Coleman AL, Gorin MB, Yu F, Williams K, Noble J, Tranah GJ, Study of Osteoporotic Fractures (SOF) Research Group. PMID: 25665771; PMCID: PMC4476503.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    49. Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease. J Clin Med. 2014 Nov 28; 3(4):1335-56. Gorin MB, Weeks DE, Baron RV, Conley YP, Ortube MC, Nusinowitz S. PMID: 25568804; PMCID: PMC4284143.
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    50. 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.
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    51. Gender specific issues in hereditary ocular disorders. Curr Eye Res. 2015 Feb; 40(2):128-45. Iragavarapu S, Gorin MB. PMID: 25019185.
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    52. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet. 2014 Nov 01; 23(21):5827-37. Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. PMID: 24899048; PMCID: PMC4189898.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    53. Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet. 2014 Jan 20; 15:11. Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB. PMID: 24444108; PMCID: PMC3905103.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    54. Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. Retin Cases Brief Rep. 2014; 8(4):300-5. Gelman SK, Gorin MB. PMID: 25372533.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    55. Unanswered questions in headache: so what is photophobia, anyway? Headache. 2013 Nov-Dec; 53(10):1681-2. Matynia A, Gorin MB. PMID: 24111756.
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    56. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. 2013 Nov; 45(11):1375-9. Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. PMID: 24036949; PMCID: PMC3812337.
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    57. Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. Mol Vis. 2013; 19:980-5. Strom SP, Gorin MB. PMID: 23687434; PMCID: PMC3654847.
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    58. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013 Apr; 45(4):433-9, 439e1-2. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR, AMD Gene Consortium. PMID: 23455636; PMCID: PMC3739472.
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    59. Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy. Invest Ophthalmol Vis Sci. 2013 Jan 02; 54(1):9-18. Ortube MC, Kiderman A, Eydelman Y, Yu F, Aguilar N, Nusinowitz S, Gorin MB. PMID: 23154459; PMCID: PMC3541948.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    60. Intrinsically photosensitive retinal ganglion cells are the primary but not exclusive circuit for light aversion. Exp Eye Res. 2012 Dec; 105:60-9. Matynia A, Parikh S, Chen B, Kim P, McNeill DS, Nusinowitz S, Evans C, Gorin MB. PMID: 23078956.
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    61. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet. 2012 Aug 03; 13:67. Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. PMID: 22863181; PMCID: PMC3459799.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    62. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet. 2012 Aug 15; 21(16):3647-54. Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. PMID: 22619378; PMCID: PMC3406759.
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    63. Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol Aspects Med. 2012 Aug; 33(4):467-86. Gorin MB. PMID: 22561651; PMCID: PMC3392516.
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    64. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol. 2012 Feb; 41(1):250-62. Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD. PMID: 22253316; PMCID: PMC3304526.
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    65. Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011 Nov 25; 52(12):9099-107. Chiu CJ, Conley YP, Gorin MB, Gensler G, Lai CQ, Shang F, Taylor A. PMID: 22058336; PMCID: PMC3231967.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansPHPublic Health
    66. Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat. 2011 Dec; 32(12):1407-16. McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G. PMID: 21882290; PMCID: PMC3217135.
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    67. Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib. Retina. 2011 Jun; 31(6):1028-35. Choi DY, Ortube MC, McCannel CA, Sarraf D, Hubschman JP, McCannel TA, Gorin MB. PMID: 21836409.
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    68. Letter from the DSMC regarding a clinical trial of lutein in patients with retinitis pigmentosa. Arch Ophthalmol. 2011 May; 129(5):675; author reply 675-6. Wittes J, Gorin MB, Mayne ST, McCarthy CS, Sternberg P, Wall M. PMID: 21555632.
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    69. Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol. 2011 Jun 15; 173(12):1357-64. McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE, Patterson CC. PMID: 21498624; PMCID: PMC3145394.
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    70. Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. Invest Ophthalmol Vis Sci. 2011 Mar; 52(3):1748-54. Spencer KL, Olson LM, Schnetz-Boutaud N, Gallins P, Wang G, Scott WK, Agarwal A, Jakobsdottir J, Conley Y, Weeks DE, Gorin MB, Pericak-Vance MA, Haines JL. PMID: 21169531; PMCID: PMC3101690.
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    71. Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes. Ophthalmic Res. 2011; 46(1):1-8. Charles BA, Conley YP, Chen G, Miller RG, Dorman JS, Gorin MB, Ferrell RE, Sereika SM, Rotimi CN, Orchard TJ. PMID: 21088442; PMCID: PMC2997447.
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    72. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010 Apr 20; 107(16):7401-6. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. PMID: 20385819; PMCID: PMC2867722.
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    73. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci. 2010 Aug; 51(8):4006-12. Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB. PMID: 20357198; PMCID: PMC2910638.
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    74. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. Graefes Arch Clin Exp Ophthalmol. 2010 Sep; 248(9):1359-61. Reddy S, Gorin MB, McCannel TA, Tsui I, Straatsma BR. PMID: 20306072; PMCID: PMC2910301.
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    75. Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. Curr Eye Res. 2010 Jan; 35(1):63-72. Tosha C, Gorin MB, Nusinowitz S. PMID: 20021256.
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    76. Trait anxiety in pregnant women predicts offspring birth outcomes. Paediatr Perinat Epidemiol. 2009 Nov; 23(6):557-66. Hosseini SM, Biglan MW, Larkby C, Brooks MM, Gorin MB, Day NL. PMID: 19840292.
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    77. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea. 2009 Aug; 28(7):801-7. Aldave AJ, Yellore VS, Vo RC, Kamal KM, Rayner SA, Plaisier CL, Chen MC, Damani MR, Pham MN, Gorin MB, Sobel E, Papp J. PMID: 19574904; PMCID: PMC2714875.
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    78. Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet. 2009 Feb; 5(2):e1000337. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. PMID: 19197355; PMCID: PMC2629574.
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    79. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One. 2008 May 21; 3(5):e2199. Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB. PMID: 18493315; PMCID: PMC2374901.
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    80. A reliable behavioral assay for the assessment of sustained photophobia in mice. Curr Eye Res. 2008 May; 33(5):483-91. Thiels E, Hoffman EK, Gorin MB. PMID: 18568886.
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    81. High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy. Mol Vis. 2007 Dec 21; 13:2328-33. Young TA, Burgess BL, Rao NP, Gorin MB, Straatsma BR. PMID: 18199974.
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    82. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007 Sep 24; 13:1777-82. Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ. PMID: 17960116.
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    83. IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Invest Ophthalmol Vis Sci. 2007 May; 48(5):2278-84. Thomas G, Grassi MA, Lee JR, Edwards AO, Gorin MB, Klein R, Casavant TL, Scheetz TE, Stone EM, Williams AB. PMID: 17460291.
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    84. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007 Apr; 125(4):571-3. Ghajarnia M, Gorin MB. PMID: 17420384.
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    85. A clinician's view of the molecular genetics of age-related maculopathy. Arch Ophthalmol. 2007 Jan; 125(1):21-9. Gorin MB. PMID: 17210848.
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    86. Apolipoprotein e gene and age-related maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol. 2007 Jan; 125(1):68-73. Tikellis G, Sun C, Gorin MB, Klein R, Klein BE, Larsen EK, Siscovick DS, Hubbard LD, Wong TY. PMID: 17210854.
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    87. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet. 2006 Nov 01; 15(21):3206-18. Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, Ferrell RE, Gorin MB. PMID: 17000705.
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    88. Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). Mol Vis. 2006 Apr 10; 12:324-30. Demirci FY, Chang MH, Mah TS, Romero MF, Gorin MB. PMID: 16636648.
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    89. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol. 2006 Jan; 141(1):208-10. Demirci FY, Rigatti BW, Mah TS, Gorin MB. PMID: 16387007.
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    90. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005 Sep; 77(3):389-407. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. PMID: 16080115; PMCID: PMC1226205.
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    91. A new vision for age-related macular degeneration. Eur J Hum Genet. 2005 Jul; 13(7):793-4. Gorin MB. PMID: 15856069.
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    92. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005 Aug 01; 14(15):2257-64. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM, Weber BH. PMID: 15987700.
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    93. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet. 2005 Jul 15; 14(14):1991-2002. Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE, Gorin MB. PMID: 15930014.
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    94. Is tamoxifen a risk factor for retinal vaso-occlusive disease? Retina. 2005 Jun; 25(4):523-6. Gorin MB, Costantino JP, Kulacoglu DN, Demirci FY, Wickerham DL, Fisher B, Wolmark N. PMID: 15933605.
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    95. The coming of age for age-related macular degeneration genetics. Ophthalmic Genet. 2005 Jun; 26(2):57-9. Gorin MB. PMID: 16020307.
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    96. Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. Am J Ophthalmol. 2005 Feb; 139(2):386-8. Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB. PMID: 15734019.
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    97. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol. 2004 Sep; 138(3):504-5. Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB. PMID: 15364249.
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    98. Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet. 2004 Jul 06; 5:18. Schmidt S, Scott WK, Postel EA, Agarwal A, Hauser ER, De La Paz MA, Gilbert JR, Weeks DE, Gorin MB, Haines JL, Pericak-Vance MA. PMID: 15238159; PMCID: PMC481059.
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    99. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol. 2004 Jul; 138(1):171-3. Demirci FY, Rigatti BW, Mah TS, Gorin MB. PMID: 15234312.
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    100. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004 Aug; 75(2):174-89. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. PMID: 15168325; PMCID: PMC1216053.
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    101. The genetics of age-related macular degeneration. Medsurg Nurs. 2003 Aug; 12(4):238-41, 259. Conley YP, Gorin MB. PMID: 14515603.
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    102. Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. Genome Res. 2003 Aug; 13(8):1944-51. Telmer CA, Retchless AC, Kinsey AD, Conley Y, Rigatti B, Gorin MB, Jarvik JW, Retchless AR. PMID: 12902384; PMCID: PMC403787.
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    103. Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4. DNA Seq. 2003 Apr; 14(2):123-7. Demirci FY, Ramser J, White NJ, Rigatti BW, Meindl A, Lewis KF, Wen G, Gorin MB. PMID: 12825353.
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    104. A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet. 2002 Dec; 23(4):209-23. Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M. PMID: 12567264.
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    105. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 Aug; 80(2):166-71. Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. PMID: 12160730.
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    106. A tale of two genotypes: consistency between two high-throughput genotyping centers. Genome Res. 2002 Mar; 12(3):430-5. Weeks DE, Conley YP, Ferrell RE, Mah TS, Gorin MB. PMID: 11875031; PMCID: PMC155285.
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    107. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002 Apr; 70(4):1049-53. Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB. PMID: 11857109; PMCID: PMC379101.
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