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    Anthony Moore, MD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentOphthalmology
    Address12 Koret Way
    San Francisco CA 94143
    vCardDownload vCard

      Collapse Biography 
      Collapse Education and Training
      Oxford UniversityBA Animal PhysiologyPhysiology1971
      Oxford UniversityBM BChMedical School1975
      Royal College of Surgeons of London FRCS1981
      Royal College of Ophthalmologists UKFRCOphth1989
      Oxford University Clinical Medical SchoolInternship1976
      Moorfields Eye Hospital London Ophthalmology Residency1982
      Hospital for Sick Children, TorontoPediatric Ophthalmology Fellowship1984
      Moorfields Eye Hospital Medical Retinal Fellowship1985
      Collapse Awards and Honors
      International Society of Genetic Eye Disease2003Franceschetti Medal
      Academy of Medical Sciences UK2005Elected Fellow
      University of California, San Francisco.2006Transamerica Lecturer
      Academia Ophthalmologica Internationalis2009Professor (by election)
      Royal College of Ophthalmologists UK2009Duke-Elder Medal
      Alcon Research Institute2010Alcon Award
      Oxford Ophthalmological Congress UK2011Doyne Medal

      Collapse ORNG Applications 
      Collapse Clinical Trials

      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. Fakin A, Robson AG, Fujinami K, Moore AT, Michaelides M, Pei-Wen Chiang J, E Holder G, Webster AR. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Invest Ophthalmol Vis Sci. 2016 Sep 1; 57(11):4668-78. PMID: 27583828.
        View in: PubMed
      2. Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. JAMA Ophthalmol. 2016 Sep 1; 134(9):992-1000. PMID: 27386845.
        View in: PubMed
      3. Hull S, Malik AN, Arno G, Mackay DS, Plagnol V, Michaelides M, Mansour S, Albanese A, Brown KT, Holder GE, Webster AR, Heath PT, Moore AT. Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. JAMA Ophthalmol. 2016 Sep 1; 134(9):1049-53. PMID: 27389523.
        View in: PubMed
      4. Islam F, Hull S, Mansfield DC, Moore AT, Bird A. Unusual Retinal Vascular Proliferation in von Hippel-Lindau Disease. JAMA Ophthalmol. 2016 Sep 1; 134(9):1073-4. PMID: 27366993.
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      5. Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born I, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Invest Ophthalmol Vis Sci. 2016 Sep 1; 57(11):4806-13. PMID: 27623334.
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      6. Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ. Analysis of copy number variation at DMBT1 and age-related macular degeneration. BMC Med Genet. 2016; 17(1):44. PMID: 27416785.
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      7. Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 Jul 1; 134(7):753-62. PMID: 27259167.
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      8. Hull S, Mukherjee R, Holder GE, Moore AT, Webster AR. The clinical features of retinal disease due to a dominant mutation in RPE65. Mol Vis. 2016; 22:626-35. PMID: 27307694.
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      9. Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, Thompson DA, Moore AT, Michaelides M. Unilateral BEST1-Associated Retinopathy. Am J Ophthalmol. 2016 Sep; 169:24-32. PMID: 27287821.
        View in: PubMed
      10. Downs LM, Webster AR, Moore AT, Michaelides M, Ali RR, Hardcastle AJ, Mellersh CS. Investigation of SLA4A3 as a candidate gene for human retinal disease. J Negat Results Biomed. 2016; 15(1):11. PMID: 27211793.
        View in: PubMed
      11. Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT. Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes. Prog Retin Eye Res. 2016 Jul; 53:70-106. PMID: 27173377.
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      12. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One. 2016; 11(4):e0153757. PMID: 27124303.
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      13. Parfitt DA, Lane A, Ramsden CM, Carr AJ, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME. Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell. 2016 Jun 2; 18(6):769-81. PMID: 27151457.
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      14. Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM. PAX6, brain structure and function in human adults: advanced MRI in aniridia. Ann Clin Transl Neurol. 2016 May; 3(5):314-30. PMID: 27231702.
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      15. Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci. 2016 Mar 1; 57(3):1053-62. PMID: 26968735.
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      16. Majander A, Bitner-Glindzicz M, Chan CM, Duncan HJ, Chinnery PF, Subash M, Keane PA, Webster AR, Moore AT, Michaelides M, Yu-Wai-Man P. Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. Ophthalmology. 2016 Jul; 123(7):1624-6. PMID: 26875006.
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      17. 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. 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. PMID: 26691988.
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      18. Scholl HP, Moore AT, Koenekoop RK, Wen Y, Fishman GA, van den Born LI, Bittner A, Bowles K, Fletcher EC, Collison FT, Dagnelie G, Degli Eposti S, Michaelides M, Saperstein DA, Schuchard RA, Barnes C, Zein W, Zobor D, Birch DG, Mendola JD, Zrenner E. Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS One. 2015; 10(12):e0143846. PMID: 26656277.
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      19. Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE. Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. Ophthalmology. 2016 Mar; 123(3):668-671.e2. PMID: 26560832.
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      20. Ripamonti C, Henning GB, Robbie SJ, Sundaram V, van den Born LI, Casteels I, de Ravel TJ, Moore AT, Smith AJ, Bainbridge JW, Ali RR, Stockman A. Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy. J Vis. 2015 Nov 1; 15(15):20. PMID: 26605849.
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      21. West SK, Hindocha M, Hogg CR, Holder GE, Moore AT, Reddy MA. Electroretinogram assessment of children with sensorineural hearing loss: implications for screening. J AAPOS. 2015 Oct; 19(5):450-4. PMID: 26486028.
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      22. Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. Retinal Architecture in ?RGS9- and ?R9AP-Associated Retinal Dysfunction (Bradyopsia). Am J Ophthalmol. 2015 Dec; 160(6):1269-1275.e1. PMID: 26343007.
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      23. Moore AT. Handheld OCT Comes of Age. Invest Ophthalmol Vis Sci. 2015 Jul; 56(8):4546. PMID: 26200493.
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      24. Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA. Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system. Eur J Hum Genet. 2016 Apr; 24(4):562-8. PMID: 26081639.
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      25. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul; 47(7):757-65. PMID: 26029869; PMCID: PMC4610820.
      26. Balikova I, Robson AG, Holder GE, Ostergaard P, Mansour S, Moore AT. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11. Acta Ophthalmol. 2016 Feb; 94(1):92-8. PMID: 25996076.
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      27. Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. Am J Ophthalmol. 2015 Aug; 160(2):364-372.e1. PMID: 25982971.
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      28. Hull S, Arno G, Thomson P, Mutch S, Webster AR, Rai H, Hill V, Moore AT. Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. Am J Med Genet A. 2015 Jul; 167(7):1601-4. PMID: 25944529.
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      29. Bainbridge JW, Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ, Feathers KL, Luong VA, Yzer S, Balaggan K, Viswanathan A, de Ravel TJ, Casteels I, Holder GE, Tyler N, Fitzke FW, Weleber RG, Nardini M, Moore AT, Thompson DA, Petersen-Jones SM, Michaelides M, van den Born LI, Stockman A, Smith AJ, Rubin G, Ali RR. Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med. 2015 May 14; 372(20):1887-97. PMID: 25938638; PMCID: PMC4497809.
      30. Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Author reply: To PMID 24480711. Ophthalmology. 2015 Apr; 122(4):e22. PMID: 25797088.
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      31. Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2015 Apr; 56(4):2358-65. PMID: 25766589.
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      32. Suzani M, Moore AT. Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease. Ophthalmology. 2015 Jun; 122(6):1195-202. PMID: 25824326.
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      33. Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H. Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 2; 96(4):666-74. PMID: 25817018; PMCID: PMC4385181.
      34. Liew G, Moore AT, Webster AR, Michaelides M. Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2015 Mar; 56(3):1531-6. PMID: 25670491.
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      35. Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet. 2015 Oct; 23(10):1318-27. PMID: 25649381; PMCID: PMC4592079.
      36. Hull S, Arno G, Plagnol V, Robson A, Webster AR, Moore AT. Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. Acta Ophthalmol. 2015 Aug; 93(5):e392-3. PMID: 25546566.
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      37. Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94. PMID: 25480986.
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      38. Dellett M, Sasai N, Nishide K, Becker S, Papadaki V, Limb GA, Moore AT, Kondo T, Ohnuma S. Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice. Invest Ophthalmol Vis Sci. 2015 Jan; 56(1):164-76. PMID: 25414197.
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      39. Theodorou M, Clement R, Taylor D, Moore A. The development of infantile nystagmus. Br J Ophthalmol. 2015 May; 99(5):691-5. PMID: 25395685.
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      40. Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ. Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. Hum Mutat. 2014 Nov; 35(11):1354-62. PMID: 25168334; PMCID: PMC4285181.
      41. Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT. Clinical and molecular characterization of enhanced S-cone syndrome in children. JAMA Ophthalmol. 2014 Nov; 132(11):1341-9. PMID: 25079116.
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      42. Ramon E, Cordomí A, Aguilà M, Srinivasan S, Dong X, Moore AT, Webster AR, Cheetham ME, Garriga P. Differential light-induced responses in sectorial inherited retinal degeneration. J Biol Chem. 2014 Dec 26; 289(52):35918-28. PMID: 25359768; PMCID: PMC4276860 [Available on 12/26/15].
      43. Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec; 46(12):1283-92. PMID: 25344692.
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      44. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015 Feb; 122(2):326-34. PMID: 25312043; PMCID: PMC4459618.
      45. Dubis AM, Cooper RF, Aboshiha J, Langlo CS, Sundaram V, Liu B, Collison F, Fishman GA, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. Invest Ophthalmol Vis Sci. 2014 Nov; 55(11):7303-11. PMID: 25277229; PMCID: PMC4235328.
      46. Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson A, Holder GE, Moore AT, Webster AR. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci. 2014 Oct; 55(10):6934-44. PMID: 25270190.
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      47. Ripamonti C, Henning GB, Ali RR, Bainbridge JW, Robbie SJ, Sundaram V, Luong VA, van den Born LI, Casteels I, de Ravel TJ, Moore AT, Stockman A. Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. Invest Ophthalmol Vis Sci. 2014 Oct; 55(10):6817-28. PMID: 25257057.
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      48. Aboshiha J, Luong V, Cowing J, Dubis AM, Bainbridge JW, Ali RR, Webster AR, Moore AT, Fitzke FW, Michaelides M. Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. Invest Ophthalmol Vis Sci. 2014 Oct; 55(10):6340-9. PMID: 25168900; PMCID: PMC4193759.
      49. Aboshiha J, Dubis AM, Cowing J, Fahy RT, Sundaram V, Bainbridge JW, Ali RR, Dubra A, Nardini M, Webster AR, Moore AT, Rubin G, Carroll J, Michaelides M. A prospective longitudinal study of retinal structure and function in achromatopsia. Invest Ophthalmol Vis Sci. 2014 Sep; 55(9):5733-43. PMID: 25103266; PMCID: PMC4161486.
      50. Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT. Expansion of ocular phenotypic features associated with mutations in ADAMTS18. JAMA Ophthalmol. 2014 Aug; 132(8):996-1001. PMID: 24874986.
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      51. Ba-Abbad R, Robson AG, Yap YC, Moore AT, Webster AR, Holder GE. Prph2 mutations as a cause of electronegative ERG. Retina. 2014 Jun; 34(6):1235-43. PMID: 24608669.
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      52. Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 1; 94(5):760-9. PMID: 24791901; PMCID: PMC4067560.
      53. Moore AT, Brown CR. Dispersing hemipteran vectors have reduced arbovirus prevalence. Biol Lett. 2014; 10(4):20140117. PMID: 24694692; PMCID: PMC4013698.
      54. Hayat JO, Yazaki E, Moore AT, Hicklin L, Dettmar P, Kang JY, Sifrim D. Objective detection of esophagopharyngeal reflux in patients with hoarseness and endoscopic signs of laryngeal inflammation. J Clin Gastroenterol. 2014 Apr; 48(4):318-27. PMID: 24172180.
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      55. Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014 Aug 1; 23(15):4086-93. PMID: 24688117; PMCID: PMC4082370.
      56. Stockman A, Henning GB, Moore AT, Webster AR, Michaelides M, Ripamonti C. Visual consequences of molecular changes in the guanylate cyclase-activating protein. Invest Ophthalmol Vis Sci. 2014 Mar; 55(3):1930-40. PMID: 24557353.
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      57. Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF. Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond). 2014 May; 28(5):521-37. PMID: 24603424; PMCID: PMC4017118.
      58. Ripamonti C, Aboshiha J, Henning GB, Sergouniotis PI, Michaelides M, Moore AT, Webster AR, Stockman A. Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways. Invest Ophthalmol Vis Sci. 2014 Feb; 55(2):963-76. PMID: 24425859.
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      59. Stockman A, Henning GB, Michaelides M, Moore AT, Webster AR, Cammack J, Ripamonti C. Cone dystrophy with "supernormal" rod ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function. Invest Ophthalmol Vis Sci. 2014 Feb; 55(2):832-40. PMID: 24370833.
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      60. Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. Eye (Lond). 2014 Apr; 28(4):481-7. PMID: 24480840; PMCID: PMC3983649.
      61. Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Ophthalmology. 2014 Jun; 121(6):1174-84. PMID: 24480711.
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      62. Errera MH, Michaelides M, Keane PA, Restori M, Paques M, Moore AT, Yeoh J, Chan D, Egan CA, Patel PJ, Tufail A. The extended clinical phenotype of dome-shaped macula. Graefes Arch Clin Exp Ophthalmol. 2014 Mar; 252(3):499-508. PMID: 24464468.
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      63. Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO, Fitzpatrick DR. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet. 2014 Feb 6; 94(2):295-302. PMID: 24462371; PMCID: PMC3928658.
      64. Singh R, Fujinami K, Chen LL, Michaelides M, Moore AT. Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. Acta Ophthalmol. 2014 Jun; 92(4):e331-2. PMID: 24428930.
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      65. Singh R, Fujinami K, Moore AT. Branch retinal artery occlusion secondary to prepapillary arterial loop. Retin Cases Brief Rep. 2014; 8(2):124-6. PMID: 25372326.
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      66. Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT. A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat. 2014 Mar; 35(3):289-93. PMID: 24375934; PMCID: PMC4284018.
      67. Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Invest Ophthalmol Vis Sci. 2013 Dec; 54(13):8181-90. PMID: 24265018.
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      68. Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5; 93(6):1143-50. PMID: 24290379; PMCID: PMC3853409.
      69. Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014 Jul; 22(7):881-7. PMID: 24281367; PMCID: PMC3938398.
      70. Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM, Mitchison HM. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J Med Genet. 2014 Jan; 51(1):61-7. PMID: 24203976; PMCID: PMC3888613.
      71. Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR. Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology. 2014 Feb; 121(2):580-7. PMID: 24199935.
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      72. Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, Duncan EL, Mitchison HM. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 7; 93(5):932-44. PMID: 24183451; PMCID: PMC3824113.
      73. Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006. PMID: 24067079; PMCID: PMC3868405.
      74. Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014 Jan; 121(1):234-45. PMID: 24148654; PMCID: PMC3895408.
      75. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M. ABCA4 gene screening by next-generation sequencing in a British cohort. Invest Ophthalmol Vis Sci. 2013 Oct; 54(10):6662-74. PMID: 23982839; PMCID: PMC3796939.
      76. Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov; 34(11):1537-46. PMID: 23946133; PMCID: PMC4337959.
      77. 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. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. 2013 Nov; 45(11):1375-9. PMID: 24036949; PMCID: PMC3812337.
      78. Fujinami K, Singh R, Carroll J, Zernant J, Allikmets R, Michaelides M, Moore AT. Fine central macular dots associated with childhood-onset Stargardt Disease. Acta Ophthalmol. 2014 Mar; 92(2):e157-9. PMID: 24020726.
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      79. Fujinami K, Sergouniotis PI, Davidson AE, Wright G, Chana RK, Tsunoda K, Tsubota K, Egan CA, Robson AG, Moore AT, Holder GE, Michaelides M, Webster AR. Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. Am J Ophthalmol. 2013 Sep; 156(3):487-501.e1. PMID: 23953153.
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      80. Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet. 2013 Nov; 50(11):765-71. PMID: 23922384; PMCID: PMC3812854.
      81. Ansari M, McKeigue PM, Skerka C, Hayward C, Rudan I, Vitart V, Polasek O, Armbrecht AM, Yates JR, Vatavuk Z, Bencic G, Kolcic I, Oostra BA, Van Duijn CM, Campbell S, Stanton CM, Huffman J, Shu X, Khan JC, Shahid H, Harding SP, Bishop PN, Deary IJ, Moore AT, Dhillon B, Rudan P, Zipfel PF, Sim RB, Hastie ND, Campbell H, Wright AF. Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration. Hum Mol Genet. 2013 Dec 1; 22(23):4857-69. PMID: 23873044; PMCID: PMC3820139.
      82. Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Hum Mol Genet. 2013 Dec 1; 22(23):4756-67. PMID: 23847049; PMCID: PMC3820135.
      83. Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC. A clinical molecular genetic service for United Kingdom families with choroideraemia. Eur J Med Genet. 2013 Aug; 56(8):432-8. PMID: 23811034.
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      84. Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology. 2013 Nov; 120(11):2324-31. PMID: 23769331.
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      85. Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M. Understanding the expectations of patients with inherited retinal dystrophies. Br J Ophthalmol. 2013 Aug; 97(8):1057-61. PMID: 23740962.
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      86. Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet. 2013 Dec; 21(12):1356-60. PMID: 23531866; PMCID: PMC3831071.
      87. Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K, Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Am J Ophthalmol. 2013 Jun; 155(6):1075-1088.e13. PMID: 23499370.
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      88. 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. Seven new loci associated with age-related macular degeneration. Nat Genet. 2013 Apr; 45(4):433-9, 439e1-2. PMID: 23455636; PMCID: PMC3739472.
      89. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology. 2013 Jul; 120(7):1454-64. PMID: 23453514.
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      90. McClements M, Davies WI, Michaelides M, Young T, Neitz M, MacLaren RE, Moore AT, Hunt DM. Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. Invest Ophthalmol Vis Sci. 2013 Feb; 54(2):1361-9. PMID: 23322568; PMCID: PMC3597186.
      91. Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. Understanding the impact of genetic testing for inherited retinal dystrophy. Eur J Hum Genet. 2013 Nov; 21(11):1209-13. PMID: 23403902; PMCID: PMC3798830.
      92. McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM. X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. Vision Res. 2013 Mar 22; 80:41-50. PMID: 23337435; PMCID: PMC3594517.
      93. Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat. 2013 Mar; 34(3):506-14. PMID: 23281133.
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      94. Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol. 2013 May; 91(3):e191-5. PMID: 23289492.
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      95. Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M. The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic. Invest Ophthalmol Vis Sci. 2012 Dec; 53(13):8006-15. PMID: 23139274; PMCID: PMC3816954.
      96. Manzouri B, Sergouniotis PI, Robson AG, Webster AR, Moore A. Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings. Arch Ophthalmol. 2012 Nov; 130(11):1470-3. PMID: 23143451.
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      97. Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol. 2012 Dec; 154(6):987-1001.e1. PMID: 22959359; PMCID: PMC3498541.
      98. Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):1040-5. PMID: 22842227; PMCID: PMC3454532.
      99. Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci. 2012 Jun; 53(7):3927-38. PMID: 22570351.
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      100. Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Léveillard T, Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR. Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet. 2012 Sep 15; 21(18):4138-50. PMID: 22694956; PMCID: PMC3428154.
      101. Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci. 2012 May; 53(6):2873-9. PMID: 22427576.
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      102. Michaelides M, Jeffery G, Moore AT. Developmental macular disorders: phenotypes and underlying molecular genetic basis. Br J Ophthalmol. 2012 Jul; 96(7):917-24. PMID: 22517799.
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      103. Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS One. 2012; 7(3):e32330. PMID: 22412862; PMCID: PMC3295755.
      104. Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Am J Hum Genet. 2012 Feb 10; 90(2):247-59. PMID: 22284829; PMCID: PMC3276677.
      105. Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012 Feb 10; 90(2):356-62. PMID: 22284827; PMCID: PMC3276660.
      106. Tan MH, Vanakker OM, Tran HV, Robson AG, Lai-Cheong JE, Groves R, Holder GE, Moore AT. Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye (Lond). 2012 May; 26(5):753-5. PMID: 22261738; PMCID: PMC3351042.
      107. 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. 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. PMID: 22253316; PMCID: PMC3304526.
      108. Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). Eur J Hum Genet. 2012 May; 20(5). PMID: 22234150; PMCID: PMC3330226.
      109. Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5). Adv Exp Med Biol. 2012; 723:595-601. PMID: 22183383.
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      110. Tranos PG, Moore A, Pavesio C, Acharya NR, Johnson MW. Diagnostic and therapeutic challenges. Retina. 2012 Jan; 32(1):191-6. PMID: 21886020.
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      111. Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology. 2012 Mar; 119(3):596-605. PMID: 22182799.
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      112. Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M. Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2. Br J Ophthalmol. 2012 May; 96(5):719-22. PMID: 22174098.
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      113. Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Invest Ophthalmol Vis Sci. 2011; 52(13):9304-9. PMID: 22039234.
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      114. Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet. 2011 Dec 9; 89(6):782-91. PMID: 22137173; PMCID: PMC3234375.
      115. Sundaram V, Moore AT, Ali RR, Bainbridge JW. Retinal dystrophies and gene therapy. Eur J Pediatr. 2012 May; 171(5):757-65. PMID: 22080959.
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      116. Stanton CM, Yates JR, den Hollander AI, Seddon JM, Swaroop A, Stambolian D, Fauser S, Hoyng C, Yu Y, Atsuhiro K, Branham K, Othman M, Chen W, Kortvely E, Chalmers K, Hayward C, Moore AT, Dhillon B, Ueffing M, Wright AF. Complement factor D in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011; 52(12):8828-34. PMID: 22003108; PMCID: PMC3230905.
      117. Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. Acta Ophthalmol. 2012 May; 90(3):e192-7. PMID: 22008250.
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      118. Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT. RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis. 2011; 17:2706-16. PMID: 22065924; PMCID: PMC3209419.
      119. Cipriani V, Matharu BK, Khan JC, Shahid H, Hayward C, Wright AF, Armbrecht AM, Dhillon B, Harding SP, Bishop PN, Bunce C, Clayton DG, Moore AT, Yates JR. No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration. Eur J Hum Genet. 2012 Jan; 20(1):1-2; author reply 3. PMID: 21989362; PMCID: PMC3234500.
      120. Hamblion EL, Moore AT, Rahi JS. The health-related quality of life of children with hereditary retinal disorders and the psychosocial impact on their families. Invest Ophthalmol Vis Sci. 2011; 52(11):7981-6. PMID: 21900374.
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      121. Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C, Clayton DG, Moore AT, Yates JR. Genetic variation in complement regulators and susceptibility to age-related macular degeneration. Immunobiology. 2012 Feb; 217(2):158-61. PMID: 22024702; PMCID: PMC3657157.
      122. Brown CR, Moore AT, O'Brien VA. Prevalence of Buggy Creek virus (Togaviridae: Alphavirus) in insect vectors increases over time in the presence of an invasive avian host. Vector Borne Zoonotic Dis. 2012 Jan; 12(1):34-41. PMID: 21923265; PMCID: PMC3249892.
      123. 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. Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat. 2011 Dec; 32(12):1407-16. PMID: 21882290; PMCID: PMC3217135.
      124. Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina. 2011 Sep; 31(8):1708-16. PMID: 21487335.
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      125. Robson AG, Tufail A, Fitzke F, Bird AC, Moore AT, Holder GE, Webster AR. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa. Retina. 2011 Sep; 31(8):1670-9. PMID: 21394059.
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      126. Shahid H, Khan JC, Cipriani V, Sepp T, Matharu BK, Bunce C, Harding SP, Clayton DG, Moore AT, Yates JR. Age-related macular degeneration: the importance of family history as a risk factor. Br J Ophthalmol. 2012 Mar; 96(3):427-31. PMID: 21865200.
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      127. Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol. 2011 Aug; 129(8):1088-93. PMID: 21825197.
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      128. Lindfield D, Griffiths MF, Thompson DA, Moore AT. Macular dystrophy in Kabuki syndrome: a new clinical feature? J Pediatr Ophthalmol Strabismus. 2011; 48 Online:e40-2. PMID: 21766738.
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      129. Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet. 2011 Jul 15; 89(1):183-90. PMID: 21763485; PMCID: PMC3135807.
      130. Berry V, Ionides AC, Moore AT, Bhattacharya SS. A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. Eur J Hum Genet. 2011 Dec; 19(12):1289-91. PMID: 21731060; PMCID: PMC3230366.
      131. Mukhopadhyay R, Holder GE, Moore AT, Webster AR. Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. Arch Ophthalmol. 2011 Jul; 129(7):954-6. PMID: 21746989.
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      132. Michaelides M, Rha J, Dees EW, Baraas RC, Wagner-Schuman ML, Mollon JD, Dubis AM, Andersen MK, Rosenberg T, Larsen M, Moore AT, Carroll J. Integrity of the cone photoreceptor mosaic in oligocone trichromacy. Invest Ophthalmol Vis Sci. 2011 Jun; 52(7):4757-64. PMID: 21436275; PMCID: PMC3175968.
      133. Hamblion EL, Moore AT, Rahi JS. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. Br J Ophthalmol. 2012 Mar; 96(3):360-5. PMID: 21653210.
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      134. Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol. 2012 Feb; 96(2):213-7. PMID: 21558291.
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      135. Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci. 2011 May; 52(6):3032-8. PMID: 21310915.
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      136. Berry V, Francis PJ, Prescott Q, Waseem NH, Moore AT, Bhattacharya SS. A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. Mol Vis. 2011; 17:1249-53. PMID: 21633712; PMCID: PMC3103741.
      137. Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Ophthalmology. 2011 Aug; 118(8):1661-70. PMID: 21529959.
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      138. 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. 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. PMID: 21498624; PMCID: PMC3145394.
      139. Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. Invest Ophthalmol Vis Sci. 2011 Mar; 52(3):1880-6. PMID: 20811058.
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      140. Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain. 2011 Mar; 134(Pt 3):892-902. PMID: 21303855; PMCID: PMC4125620.
      141. Gore S, Carr L, Moore A, Thompson D. Hereditary primary lateral sclerosis with cone dysfunction. Ophthalmic Genet. 2010 Dec; 31(4):221-6. PMID: 21067484.
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      142. Sohn EH, Michaelides M, Bird AC, Roberts CJ, Moore AT, Smyth D, Brady AF, Hungerford JL. Novel mutation in PANK2 associated with retinal telangiectasis. Br J Ophthalmol. 2011 Jan; 95(1):149-50. PMID: 20974629.
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      143. Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol. 2011 Jun; 95(6):811-7. PMID: 20956273.
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      144. Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM. Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. Eur J Hum Genet. 2011 Feb; 19(2):131-7. PMID: 20859302; PMCID: PMC3025782.
      145. Kim DY, Hwang JC, Moore AT, Bird AC, Tsang SH. Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots. Retina. 2010 Sep; 30(8):1217-22. PMID: 20539258; PMCID: PMC2939199.
      146. Yeoh J, Rahman W, Chen F, Hooper C, Patel P, Tufail A, Webster AR, Moore AT, Dacruz L. Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography. Graefes Arch Clin Exp Ophthalmol. 2010 Dec; 248(12):1719-28. PMID: 20640437.
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      147. Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. X-linked cone dystrophy caused by mutation of the red and green cone opsins. Am J Hum Genet. 2010 Jul 9; 87(1):26-39. PMID: 20579627; PMCID: PMC2896775.
      148. Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. Focus on molecules: centrosomal protein 290 (CEP290). Exp Eye Res. 2011 May; 92(5):316-7. PMID: 20493186.
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      149. Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May; 31(5):E1361-76. PMID: 20232351.
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      150. Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010 Sep; 51(9):4771-80. PMID: 20393116; PMCID: PMC2941169.
      151. Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Mol Vis. 2010; 16:650-64. PMID: 20405026; PMCID: PMC2855733.
      152. Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis. 2010; 16:369-77. PMID: 20300561; PMCID: PMC2838735.
      153. Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B. Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci. 2010 Jul; 51(7):3354-61. PMID: 20181839; PMCID: PMC2904002.
      154. Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology. 2010 Jun; 117(6):1199-1206.e1. PMID: 20171741.
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      155. Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol Vis. 2010; 16:46-52. PMID: 20087419; PMCID: PMC2806159.
      156. Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. Retina. 2010 Jan; 30(1):51-62. PMID: 19952985.
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      157. Gupta A, Vasudevan P, Biswas S, Smith JC, Moore AT, Lloyd C, Dutton G. Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature. Ophthalmic Genet. 2009 Dec; 30(4):157-60. PMID: 19852571.
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      158. Burton H, Alberg C, Moore AT. Genetics in ophthalmology: equity in service provision? J Public Health (Oxf). 2010 Jun; 32(2):259-66. PMID: 19951987.
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      159. Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis. 2009; 15:2442-7. PMID: 19956411; PMCID: PMC2786888.
      160. Goldberg N, Chou J, Moore A, Tsang S. Autofluorescence imaging in rubella retinopathy. Ocul Immunol Inflamm. 2009 Nov-Dec; 17(6):400-2. PMID: 20001260; PMCID: PMC2814186.
      161. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet. 2009 Nov; 85(5):711-9. PMID: 19878917; PMCID: PMC2775833.
      162. Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology. 2010 Jan; 117(1):120-127.e1. PMID: 19818506.
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      163. Moore AT. Childhood macular dystrophies. Curr Opin Ophthalmol. 2009 Sep; 20(5):363-8. PMID: 19587597.
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      164. Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer EC, Berthoud VM. A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci. 2009 Dec; 50(12):5837-45. PMID: 19684000; PMCID: PMC2788668.
      165. Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis. 2009; 15:1014-9. PMID: 19461930; PMCID: PMC2684559.
      166. Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009 Jul 15; 18(14):2643-55. PMID: 19414485; PMCID: PMC2701339.
      167. Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ. Blue cone monochromacy: causative mutations and associated phenotypes. Mol Vis. 2009; 15:876-84. PMID: 19421413; PMCID: PMC2676201.
      168. Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009 May; 30(5):E603-11. PMID: 19306328.
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      169. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009 Oct; 17(10):1325-35. PMID: 19367324; PMCID: PMC2826145.
      170. Neveu MM, Jeffery G, Moore AT, Dakin SC. Deficits in local and global motion perception arising from abnormal eye movements. J Vis. 2009; 9(4):9.1-15. PMID: 19757918.
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      171. Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 2009 Jun; 50(6):2581-90. PMID: 19218613.
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      172. Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009 Feb; 84(2):266-73. PMID: 19200525; PMCID: PMC2668026.
      173. Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL. Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1552-8. PMID: 19098318; PMCID: PMC3934550.
      174. Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug; 118(8):2908-16. PMID: 18654668; PMCID: PMC2483685.
      175. Moradi P, Mackay D, Hunt DM, Moore AT. Focus on molecules: retinol dehydrogenase 12 (RDH12). Exp Eye Res. 2008 Sep; 87(3):160-1. PMID: 18599039.
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      176. Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008 May; 49(5):2082-93. PMID: 18436841.
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      177. Khan JC, Shahid H, Thurlby DA, Yates JR, Moore AT. Charles Bonnet syndrome in age-related macular degeneration: the nature and frequency of images in subjects with end-stage disease. Ophthalmic Epidemiol. 2008 May-Jun; 15(3):202-8. PMID: 18569816.
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      178. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008 May 22; 358(21):2231-9. PMID: 18441371.
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      179. Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008 Jan-Feb; 53(1):16-40. PMID: 18191655.
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      180. Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci. 2007 Dec; 48(12):5684-9. PMID: 18055820.
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      181. Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol. 2008 Mar; 116(2):79-89. PMID: 17985165; PMCID: PMC2244701.
      182. Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. Clinical characterization and genetic mapping of North Carolina macular dystrophy. Vision Res. 2008 Feb; 48(3):470-7. PMID: 17976682; PMCID: PMC2573950.
      183. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007 Aug 9; 357(6):553-61. PMID: 17634448.
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      184. Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May; 125(5):714-5. PMID: 17502520.
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      185. Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM. Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med. 2007 May; 161(5):463-9. PMID: 17485622.
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      186. Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM. Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. Int J Audiol. 2007 Apr; 46(4):196-202. PMID: 17454233.
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      187. Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT. Residual cone vision without alpha-transducin. J Vis. 2007; 7(4):8. PMID: 17461692.
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      188. Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. J Med Genet. 2007 Jun; 44(6):373-80. PMID: 17237123; PMCID: PMC2740882.
      189. Elgohary MA, Lim KS, Siriwardena D, Moore AT, Wormald RP. Increased crystalline lens thickness and phacomorphic glaucoma in patients with Fanconi anemia. J Cataract Refract Surg. 2006 Oct; 32(10):1771-4. PMID: 17010885.
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      190. Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am J Hum Genet. 2006 Sep; 79(3):574-9. PMID: 16909397; PMCID: PMC1559534.
      191. Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006 May-Jun; 51(3):232-58. PMID: 16644365.
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      192. Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet. 2006 Apr; 78(4):702-7. PMID: 16532399; PMCID: PMC1424696.
      193. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci. 2006 Feb; 47(2):536-40. PMID: 16431947.
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      194. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005 Sep; 112(9):1592-8. PMID: 16019073.
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      195. Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005 Aug; 112(8):1442-7. PMID: 15953638.
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      196. Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM. X-linked cone dysfunction syndrome with myopia and protanopia. Ophthalmology. 2005 Aug; 112(8):1448-54. PMID: 15953640.
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      197. Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet. 2005 Sep; 117(5):452-9. PMID: 15959809.
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      198. Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005 Jun; 46(6):1891-8. PMID: 15914600.
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      199. Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct; 45(10):3683-9. PMID: 15452077.
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      200. Bamiou DE, Musiek FE, Sisodiya SM, Free SL, Davies RA, Moore A, van Heyningen V, Luxon LM. Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann Neurol. 2004 Oct; 56(4):503-9. PMID: 15389894.
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      201. Scholl HP, Chong NH, Robson AG, Holder GE, Moore AT, Bird AC. Fundus autofluorescence in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2004 Aug; 45(8):2747-52. PMID: 15277500.
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      202. Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A. Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS). Ophthalmic Genet. 2004 Jun; 25(2):121-31. PMID: 15370543.
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      203. Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci. 2004 Jun; 45(6):1975-82. PMID: 15161866.
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      204. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol. 2004 May-Jun; 49(3):300-15. PMID: 15110667.
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      205. Bradshaw K, Allen L, Trump D, Hardcastle A, George N, Moore A. A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol. 2004 Mar; 108(2):135-45. PMID: 15455796.
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      206. Francis PJ, Moore AT. Genetics of childhood cataract. Curr Opin Ophthalmol. 2004 Feb; 15(1):10-5. PMID: 14743013.
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      207. Cates CA, Dandekar SS, Flanagan DW, Moore AT. Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up. Ophthalmic Genet. 2003 Dec; 24(4):247-52. PMID: 14566654.
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      208. Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Quantitative MR image analysis in subjects with defects in the PAX6 gene. Neuroimage. 2003 Dec; 20(4):2281-90. PMID: 14683729.
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      209. Hoffmann MB, Tolhurst DJ, Moore AT, Morland AB. Organization of the visual cortex in human albinism. J Neurosci. 2003 Oct 1; 23(26):8921-30. PMID: 14523094.
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      210. Bradshaw K, Newman D, Allen L, Moore A. Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness. Doc Ophthalmol. 2003 Sep; 107(2):155-64. PMID: 14661905.
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      211. Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. Invest Ophthalmol Vis Sci. 2003 May; 44(5):2178-83. PMID: 12714659.
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      212. Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003 May; 53(5):658-63. PMID: 12731001.
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      213. Michaelides M, Johnson S, Poulson A, Bradshaw K, Bellmann C, Hunt DM, Moore AT. An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. Invest Ophthalmol Vis Sci. 2003 Apr; 44(4):1657-62. PMID: 12657606.
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      214. Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics. 2003 Mar; 81(3):304-14. PMID: 12659814.
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      215. Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat. 2003 Feb; 21(2):169. PMID: 12552565.
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      216. Wilson GA, Lloyd C, Moore AT. Optic disc drusen and peripapillary subretinal neovascular membranes in children. J Pediatr Ophthalmol Strabismus. 2002 Nov-Dec; 39(6):351-4. PMID: 12458848.
        View in: PubMed
      217. Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002 Jun; 43(6):1715-24. PMID: 12036970.
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      218. Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet. 2002 Apr; 10(4):245-9. PMID: 12032732.
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      219. Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 1; 11(1):87-92. PMID: 11773002.
        View in: PubMed
      220. Charles SJ, Moore AT, Yates JR. Genetic mapping of X linked ocular albinism: linkage analysis in British families. J Med Genet. 1992 Aug; 29(8):552-4. PMID: 1355560; PMCID: PMC1016060.
      221. Moore AT, Maher ER, Koch DJ, Charles SJ. Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC). Ophthalmic Paediatr Genet. 1992 Jun; 13(2):67-71. PMID: 1323091.
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      222. Cunliffe IA, Moffat DA, Hardy DG, Moore AT. Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol. 1992 May; 76(5):310-2. PMID: 1390517; PMCID: PMC504265.
      223. Moore AT. Cone and cone-rod dystrophies. J Med Genet. 1992 May; 29(5):289-90. PMID: 1583653; PMCID: PMC1015945.
      224. Charles SJ, Moore AT. Results of early surgery for infantile esotropia in normal and neurologically impaired infants. Eye (Lond). 1992; 6 ( Pt 6):603-6. PMID: 1289137.
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      225. Charles SJ, Moore AT, Grant JW, Yates JR. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye (Lond). 1992; 6 ( Pt 1):75-9. PMID: 1426406.
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      226. Moore AT. Screening for retinopathy of prematurity. Eye (Lond). 1992; 6 ( Pt 3):vii. PMID: 1446753.
        View in: PubMed
      227. Williamson TH, Garner A, Moore AT. Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet. 1991 Mar; 12(1):11-7. PMID: 1908964.
        View in: PubMed
      228. Charles SJ, Moore AT, Davison BC, Dyson HM, Willatt L. Flecked retina associated with ring 17 chromosome. Br J Ophthalmol. 1991 Feb; 75(2):125-7. PMID: 1995042; PMCID: PMC504131.
      229. Moore AT, Maher ER, Rosen P, Gregor Z, Bird AC. Ophthalmological screening for von Hippel-Lindau disease. Eye (Lond). 1991; 5 ( Pt 6):723-8. PMID: 1800174.
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      230. Cunliffe IA, Flanagan DW, George ND, Aggarwaal RJ, Moore AT. Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy. Br J Ophthalmol. 1991 Jan; 75(1):9-12. PMID: 1991094; PMCID: PMC504097.
      231. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990 Nov; 77(283):1151-63. PMID: 2274658.
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      232. Charles SJ, Moore AT, Yates JR, Green T, Clark P. Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet. 1990 Sep; 27(9):590-2. PMID: 2231654; PMCID: PMC1017224.
      233. Maher ER, Moore AT. Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli. Lancet. 1990 Mar 31; 335(8692):791. PMID: 1969532.
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      234. Inglehearn CF, Papiha SS, Jay M, Wright AF, Moore AT, Bhattacharya SS. Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus. J Med Genet. 1990 Jan; 27(1):14-6. PMID: 2106582; PMCID: PMC1016872.
      235. Twomey JM, Gilvarry A, Restori M, Kirkness CM, Moore AT, Holden AL. Ocular enlargement following infantile corneal opacification. Eye (Lond). 1990; 4 ( Pt 3):497-503. PMID: 2209916.
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      236. Charles SJ, Moore AT, Yates JR, Ferguson-Smith MA. Lisch nodules in neurofibromatosis type 2. Case report. Arch Ophthalmol. 1989 Nov; 107(11):1571-2. PMID: 2510706.
        View in: PubMed
      237. Moore AT, Walker J, Taylor D. Familial Brown's syndrome. J Pediatr Ophthalmol Strabismus. 1988 Jul-Aug; 25(4):202-4. PMID: 3045289.
        View in: PubMed
      238. Uliss AE, Moore AT, Bird AC. The dark choroid in posterior retinal dystrophies. Ophthalmology. 1987 Nov; 94(11):1423-7. PMID: 3684216.
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