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Anthony Moore, MD

Title(s)Prof of Clinical Pediatrics, Ophthalmology
SchoolSchool of Medicine
Address550 16th. Street
San Francisco CA 94158
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    Collapse Biography 
    Collapse Education and Training
    Oxford UniversityBA Animal Physiology1971Physiology
    Oxford UniversityBM BCh1975Medical School
    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
    University of California, San Francisco, CA2018Diversity, Equity, and Inclusion Champion Training
    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. 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. Dark without pressure retinal changes in a paediatric age group. Eye (Lond). 2020 Jul 20. Flores Pimentel MA, Duncan JL, de Alba Campomanes AG, Moore A. PMID: 32690924.
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    2. Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. Genes (Basel). 2020 May 06; 11(5). Berry V, Ionides A, Pontikos N, Moghul I, Moore AT, Quinlan RA, Michaelides M. PMID: 32384692.
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    3. Congenital focal abnormalities of the retina and retinal pigment epithelium. Eye (Lond). 2020 May 04. Liu Y, Moore AT. PMID: 32367006.
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    4. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes (Basel). 2020 Apr 23; 11(4). Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D. PMID: 32340307.
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    5. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology. 2020 Apr 16. Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. PMID: 32423767.
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    6. Multiexon deletion alleles of ATF6 linked to achromatopsia. JCI Insight. 2020 Apr 09; 5(7). Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. PMID: 32271167.
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    7. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. Br J Ophthalmol. 2020 Mar 25. Berry V, Georgiou M, Fujinami K, Quinlan R, Moore A, Michaelides M. PMID: 32217542.
      View in: PubMed   Mentions: 1     Fields:    
    8. A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genet. 2020 Apr; 41(2):131-134. Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M. PMID: 32202185.
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    9. Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration. Nat Commun. 2020 02 07; 11(1):778. Cipriani V, Lorés-Motta L, He F, Fathalla D, Tilakaratna V, McHarg S, Bayatti N, Acar IE, Hoyng CB, Fauser S, Moore AT, Yates JRW, de Jong EK, Morgan BP, den Hollander AI, Bishop PN, Clark SJ. PMID: 32034129.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Sci Rep. 2020 Jan 28; 10(1):1289. Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. PMID: 31992737.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genet Med. 2020 Mar; 22(3):598-609. Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. PMID: 31700164.
      View in: PubMed   Mentions: 1     Fields:    
    12. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol. 2019 09; 86(3):368-383. Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. PMID: 31298765.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    13. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 08; 179(8):1665-1671. Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH. PMID: 31192531.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    14. Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Front Physiol. 2019; 10:688. Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B. PMID: 31231240.
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    15. Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Invest Ophthalmol Vis Sci. 2019 06 03; 60(7):2631-2640. Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. PMID: 31237654.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    16. Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. Am J Ophthalmol. 2019 11; 207:87-98. Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M. PMID: 31077665.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort. Retina. 2019 Mar; 39(3):514-529. Shona OA, Islam F, Robson AG, Webster AR, Moore AT, Michaelides M. PMID: 29300249.
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    18. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Hum Mutat. 2019 05; 40(5):578-587. Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR. PMID: 30710461.
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    19. Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma. Ophthalmic Surg Lasers Imaging Retina. 2019 02 01; 50(2):e1-e9. Stacey AW, Pefkianaki M, Ilginis T, Michaelides M, Hykin P, Webster A, Moore AT, Sagoo MS. PMID: 30768223.
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    20. Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. Br J Ophthalmol. 2019 Jan 24. Gill JS, Georgiou M, Kalitzeos A, Moore AT, Michaelides M. PMID: 30679166.
      View in: PubMed   Mentions: 2     Fields:    
    21. Unilateral pigmentary retinopathy: a retrospective case series. Acta Ophthalmol. 2019 Jun; 97(4):e601-e617. Errera MH, Robson AG, Wong T, Hykin PG, Pal B, Sagoo MS, Pavesio CE, Moore AT, Webster AR, MacLaren RE, Holder GE. PMID: 30597758.
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    22. Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa. Br J Ophthalmol. 2019 08; 103(8):1163-1166. Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M. PMID: 30291136.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    23. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 08; 14(8):e1007504. Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. PMID: 30157172.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    24. Cobalamin D Deficiency Identified Through Newborn Screening. JIMD Rep. 2019; 44:73-77. Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC. PMID: 30097992.
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    25. PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. Retin Cases Brief Rep. 2018 Aug 01. Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG. PMID: 30074570.
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    26. Retinal findings in a patient with mutations in ABCC6 and ABCA4. Eye (Lond). 2018 09; 32(9):1542-1543. Mahroo OA, Fujinami K, Moore AT, Webster AR. PMID: 29765157.
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    27. Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. Eye (Lond). 2018 05 01; 32:1661-1668. Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M. PMID: 29934635.
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    28. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Am J Med Genet A. 2018 04; 176(4):997-1000. Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. PMID: 29575628.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    29. THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. Retina. 2018 Mar; 38(3):606-613. Khan KN, Islam F, Moore AT, Michaelides M. PMID: 28225368.
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    30. DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. Retina. 2018 Mar; 38(3):620-628. Khan KN, Lord EC, Arno G, Islam F, Carss KJ, Raymond F, Toomes C, Ali M, Inglehearn CF, Webster AR, Moore AT, Poulter JA, Michaelides M. PMID: 28234808.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    31. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. Am J Ophthalmol. 2018 04; 188:123-130. Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. PMID: 29421294.
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    32. Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. Ophthalmology. 2018 06; 125(6):894-903. Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M. PMID: 29398085.
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    33. A clinical and molecular characterisation of CRB1-associated maculopathy. Eur J Hum Genet. 2018 05; 26(5):687-694. Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M. PMID: 29391521.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    34. NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2018 Feb; 38(2):379-386. Khan KN, Islam F, Holder GE, Robson A, Webster AR, Moore AT, Michaelides M. PMID: 28590961.
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    35. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 05; 125(5):735-746. Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. PMID: 29310964.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    36. High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration. Am J Ophthalmol. 2018 Jan; 185:32-42. Lew YJ, Rinella N, Qin J, Chiang J, Moore AT, Porco TC, Roorda A, Duncan JL. PMID: 29103961.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    37. Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa. Ophthalmic Epidemiol. 2018 06; 25(3):183-186. Liew G, Moore AT, Bradley PD, Webster AR, Michaelides M. PMID: 29140735.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    38. A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic Genet. 2018 04; 39(2):236-241. Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M. PMID: 29039721.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    39. Genetic Testing for Inherited Retinal Disease. Ophthalmology. 2017 09; 124(9):1254-1255. Moore AT. PMID: 28823343.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    40. Revesz syndrome masquerading as traumatic retinal detachment. J AAPOS. 2017 Oct; 21(5):422-425.e1. Moussa K, Huang JN, Moore AT. PMID: 28866069.
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    41. Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration. JAMA Ophthalmol. 2017 09 01; 135(9):909-916. Cipriani V, Hogg RE, Sofat R, Moore AT, Webster AR, Yates JRW, Fletcher AE. PMID: 28750115.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    42. Bullous X linked retinoschisis: clinical features and prognosis. Br J Ophthalmol. 2018 05; 102(5):622-624. Hinds AM, Fahim A, Moore AT, Wong SC, Michaelides M. PMID: 28848025.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    43. Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK. Br J Ophthalmol. 2018 04; 102(4):438-443. Moosajee M, Abbouda A, Foot B, Bunce C, Moore AT, Acheson J. PMID: 28844051.
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    44. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Sci Rep. 2017 08 08; 7(1):7512. Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT. PMID: 28790370.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    45. Homozygous Resistance to Thyroid Hormone ß: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure? J Endocr Soc. 2017 Sep 01; 1(9):1203-1212. Moran C, Habeb AM, Kahaly GJ, Kampmann C, Hughes M, Marek J, Rajanayagam O, Kuczynski A, Vargha-Khadem F, Morsy M, Offiah AC, Poole K, Ward K, Lyons G, Halsall D, Berman L, Watson L, Baguley D, Mollon J, Moore AT, Holder GE, Dattani M, Chatterjee K. PMID: 29264576.
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    46. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017 09; 101(9):1147-1154. Kumaran N, Moore AT, Weleber RG, Michaelides M. PMID: 28689169.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimals
    47. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA Ophthalmol. 2017 07 01; 135(7):749-760. Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME. PMID: 28542676.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    48. FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY. Retina. 2017 Jul; 37(7):1360-1370. Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M. PMID: 27764019.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    49. Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2017 06 01; 58(7):2906-2914. Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K, Bommireddy T, Bagheri S, Bakall B, Scholl HP, Raymond FL, Toomes C, Inglehearn CF, Pennesi ME, Moore AT, Michaelides M, Webster AR, Ali M. PMID: 28586915.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    50. Association of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmol. 2017 04 01; 135(4):339-347. Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC. PMID: 28253385.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    51. Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013. Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. PMID: 28366503.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    52. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. PLoS One. 2017; 12(3):e0174020. Lambertus S, Bax NM, Fakin A, Groenewoud JM, Klevering BJ, Moore AT, Michaelides M, Webster AR, van der Wilt GJ, Hoyng CB. PMID: 28355279.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    53. Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol. 2017 11; 101(11):1505-1509. Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. PMID: 28314831.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    54. Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. Sci Rep. 2017 03 03; 7(1):51. Ramsden CM, Nommiste B, R Lane A, Carr AF, Powner MB, J K Smart M, Chen LL, Muthiah MN, Webster AR, Moore AT, Cheetham ME, da Cruz L, Coffey PJ. PMID: 28246391.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    55. Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. Ophthalmic Genet. 2017 12; 38(6):559-561. Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT. PMID: 28635423.
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    56. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities. Ophthalmic Genet. 2017 12; 38(6):511-519. Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B. PMID: 28635424.
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    57. Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. Hum Genome Var. 2017; 4:17004. Cheong SS, Hull S, Jones B, Chana R, Thornton N, Plagnol V, Moore AT, Hardcastle AJ. PMID: 28224043.
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    58. Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. JAMA Ophthalmol. 2017 Feb 01; 135(2):137-144. Hull S, Attanasio M, Arno G, Carss K, Robson AG, Thompson DA, Plagnol V, Michaelides M, Holder GE, Henderson RH, Raymond FL, Moore AT, Webster AR. PMID: 28056120.
      View in: PubMed   Mentions: 4     Fields:    
    59. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 02; 100(2):334-342. Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. PMID: 28132693.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    60. Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. Eur J Hum Genet. 2017 04; 25(4). Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M. PMID: 28098148.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    61. The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses. Invest Ophthalmol Vis Sci. 2017 01 01; 58(1):502-516. Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A. PMID: 28125838.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    62. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Am J Hum Genet. 2017 01 05; 100(1):75-90. Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT, Webster AR, Raymond FL. PMID: 28041643.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    63. Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. Ophthalmic Genet. 2017 Sep-Oct; 38(5):465-466. Khan KN, Carss K, Raymond FL, Islam F, Moore AT, Michaelides M, Arno G. PMID: 27892788.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    64. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 01; 99(6):1305-1315. Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. PMID: 27889058.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    65. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet. 2016 Dec 01; 99(6):1338-1352. Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. PMID: 27839872.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    66. The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. Invest Ophthalmol Vis Sci. 2016 Nov 01; 57(14):5963-5973. Fakin A, Robson AG, Chiang JP, Fujinami K, Moore AT, Michaelides M, Holder GE, Webster AR. PMID: 27820952.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    67. Ophthalmomyiasis interna masquerading as orbital cellulitis. J AAPOS. 2016 12; 20(6):546-548.e2. Fung SS, West SJ, Moore AT. PMID: 27810422.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    68. Ocular findings in a patient with fucosidosis. Am J Ophthalmol Case Rep. 2016 Dec; 4:83-86. Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT. PMID: 29503934.
      View in: PubMed   Mentions:
    69. Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). Sci Rep. 2016 Sep 22; 6:33792. Carter DA, Smart MJ, Letton WV, Ramsden CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, Powner MB, Webster AR, da Cruz L, Moore AT, Coffey PJ, Carr AF. PMID: 27653836.
      View in: PubMed   Mentions: 6     Fields:    
    70. 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 09 01; 57(11):4806-13. Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR. PMID: 27623334.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    71. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Invest Ophthalmol Vis Sci. 2016 09 01; 57(11):4668-78. Fakin A, Robson AG, Fujinami K, Moore AT, Michaelides M, Pei-Wen Chiang J, E Holder G, Webster AR. PMID: 27583828.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    72. Unusual Retinal Vascular Proliferation in von Hippel-Lindau Disease. JAMA Ophthalmol. 2016 09 01; 134(9):1073-4. Islam F, Hull S, Mansfield DC, Moore AT, Bird A. PMID: 27366993.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    73. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. JAMA Ophthalmol. 2016 Sep 01; 134(9):992-1000. Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR. PMID: 27386845.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    74. Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. JAMA Ophthalmol. 2016 Sep 01; 134(9):1049-53. 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. PMID: 27389523.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    75. The New Pretender: A Large UK Case Series of Retinal Injuries in Children Secondary to Handheld Lasers. Am J Ophthalmol. 2016 Nov; 171:88-94. Raoof N, Bradley P, Theodorou M, Moore AT, Michaelides M. PMID: 27590121.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    76. Clinical and Genetic Features of Choroideremia in Childhood. Ophthalmology. 2016 10; 123(10):2158-65. Khan KN, Islam F, Moore AT, Michaelides M. PMID: 27506488.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    77. Analysis of copy number variation at DMBT1 and age-related macular degeneration. BMC Med Genet. 2016 07 15; 17(1):44. Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ. PMID: 27416785.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    78. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 07 01; 134(7):753-62. 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. PMID: 27259167.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    79. The clinical features of retinal disease due to a dominant mutation in RPE65. Mol Vis. 2016; 22:626-35. Hull S, Mukherjee R, Holder GE, Moore AT, Webster AR. PMID: 27307694.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    80. Unilateral BEST1-Associated Retinopathy. Am J Ophthalmol. 2016 Sep; 169:24-32. Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, Thompson DA, Moore AT, Michaelides M. PMID: 27287821.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    81. Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas. Ophthalmic Genet. 2017 May-Jun; 38(3):281-283. Oatts JT, Hull S, Michaelides M, Arno G, Webster AR, Moore AT. PMID: 27267789.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    82. Investigation of SLA4A3 as a candidate gene for human retinal disease. J Negat Results Biomed. 2016 May 23; 15:11. Downs LM, Webster AR, Moore AT, Michaelides M, Ali RR, Hardcastle AJ, Mellersh CS. PMID: 27211793.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    83. Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies. Transl Vis Sci Technol. 2016 May; 5(3):10. Simunovic MP, Moore AT, MacLaren RE. PMID: 27247858.
      View in: PubMed   Mentions:
    84. 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 07; 53:70-106. Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT. PMID: 27173377.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimals
    85. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One. 2016; 11(4):e0153757. 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. PMID: 27124303.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    86. Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell. 2016 06 02; 18(6):769-81. 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. PMID: 27151457.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    87. PAX6, brain structure and function in human adults: advanced MRI in aniridia. Ann Clin Transl Neurol. 2016 05; 3(5):314-30. Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM. PMID: 27231702.
      View in: PubMed   Mentions: 6     Fields:    
    88. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci. 2016 Mar; 57(3):1053-62. 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. PMID: 26968735.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    89. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. Br J Ophthalmol. 2016 Nov; 100(11):1499-1505. Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT. PMID: 26906952.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    90. Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. Ophthalmology. 2016 07; 123(7):1624-6. 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. PMID: 26875006.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    91. The ophthalmic presentation of Hermansky-Pudlak syndrome 6. Br J Ophthalmol. 2016 Nov; 100(11):1521-1524. Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT. PMID: 26823395.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    92. 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.
      View in: PubMed   Mentions: 204     Fields:    Translation:Humans
    93. 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. 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. PMID: 26656277.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCellsCTClinical Trials
    94. Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. Ophthalmology. 2016 Mar; 123(3):668-71.e2. Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE. PMID: 26560832.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    95. Electroretinogram assessment of children with sensorineural hearing loss: implications for screening. J AAPOS. 2015 Oct; 19(5):450-4. West SK, Hindocha M, Hogg CR, Holder GE, Moore AT, Reddy MA. PMID: 26486028.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    96. Retinal Architecture in ?RGS9- and ?R9AP-Associated Retinal Dysfunction (Bradyopsia). Am J Ophthalmol. 2015 Dec; 160(6):1269-1275.e1. Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. PMID: 26343007.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    97. Handheld OCT Comes of Age. Invest Ophthalmol Vis Sci. 2015 Jul; 56(8):4546. Moore AT. PMID: 26200493.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    98. 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. Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA. PMID: 26081639.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    99. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul; 47(7):757-65. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, 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. PMID: 26029869.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    100. 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. Balikova I, Robson AG, Holder GE, Ostergaard P, Mansour S, Moore AT. PMID: 25996076.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    101. 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. 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. PMID: 25982971.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    102. 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. Hull S, Arno G, Thomson P, Mutch S, Webster AR, Rai H, Hill V, Moore AT. PMID: 25944529.
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    103. Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med. 2015 May 14; 372(20):1887-97. 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. PMID: 25938638.
      View in: PubMed   Mentions: 141     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    104. 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. Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT. PMID: 25766589.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    105. Author reply: To PMID 24480711. Ophthalmology. 2015 Apr; 122(4):e22. 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. PMID: 25797088.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    106. Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease. Ophthalmology. 2015 Jun; 122(6):1195-202. Suzani M, Moore AT. PMID: 25824326.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    107. Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 02; 96(4):666-74. 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. PMID: 25817018.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    108. Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2015 Feb 10; 56(3):1531-6. Liew G, Moore AT, Webster AR, Michaelides M. PMID: 25670491.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    109. 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. 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. PMID: 25649381.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    110. Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy. J Vis. 2015; 15(15):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. PMID: 26605849.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCellsCTClinical Trials
    111. Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. Acta Ophthalmol. 2015 Aug; 93(5):e392-3. Hull S, Arno G, Plagnol V, Robson A, Webster AR, Moore AT. PMID: 25546566.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    112. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb; 52(2):85-94. 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. PMID: 25480986.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    113. Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice. Invest Ophthalmol Vis Sci. 2014 Nov 20; 56(1):164-76. Dellett M, Sasai N, Nishide K, Becker S, Papadaki V, Limb GA, Moore AT, Kondo T, Ohnuma S. PMID: 25414197.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    114. The development of infantile nystagmus. Br J Ophthalmol. 2015 May; 99(5):691-5. Theodorou M, Clement R, Taylor D, Moore A. PMID: 25395685.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    115. Clinical and molecular characterization of enhanced S-cone syndrome in children. JAMA Ophthalmol. 2014 Nov; 132(11):1341-9. Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT. PMID: 25079116.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    116. 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. 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. PMID: 25168334.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    117. Differential light-induced responses in sectorial inherited retinal degeneration. J Biol Chem. 2014 Dec 26; 289(52):35918-28. Ramon E, Cordomí A, Aguilà M, Srinivasan S, Dong X, Moore AT, Webster AR, Cheetham ME, Garriga P. PMID: 25359768.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    118. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec; 46(12):1283-1292. 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, Cormier-Daire V, 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. PMID: 25344692.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansAnimalsCells
    119. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015 Feb; 122(2):326-34. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT. PMID: 25312043.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    120. Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. Invest Ophthalmol Vis Sci. 2014 Oct 02; 55(11):7303-11. 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. PMID: 25277229.
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    121. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci. 2014 Sep 30; 55(10):6934-44. 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. PMID: 25270190.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    122. Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. Invest Ophthalmol Vis Sci. 2014 Sep 25; 55(10):6817-28. 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. PMID: 25257057.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    123. Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. Invest Ophthalmol Vis Sci. 2014 Aug 28; 55(10):6340-9. Aboshiha J, Luong V, Cowing J, Dubis AM, Bainbridge JW, Ali RR, Webster AR, Moore AT, Fitzke FW, Michaelides M. PMID: 25168900.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    124. A prospective longitudinal study of retinal structure and function in achromatopsia. Invest Ophthalmol Vis Sci. 2014 Aug 07; 55(9):5733-43. 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. PMID: 25103266.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    125. Expansion of ocular phenotypic features associated with mutations in ADAMTS18. JAMA Ophthalmol. 2014 Aug; 132(8):996-1001. 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. PMID: 24874986.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    126. Prph2 mutations as a cause of electronegative ERG. Retina. 2014 Jun; 34(6):1235-43. Ba-Abbad R, Robson AG, Yap YC, Moore AT, Webster AR, Holder GE. PMID: 24608669.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    127. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 01; 94(5):760-9. 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. PMID: 24791901.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimals
    128. Dispersing hemipteran vectors have reduced arbovirus prevalence. Biol Lett. 2014; 10(4):20140117. Moore AT, Brown CR. PMID: 24694692.
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    129. Objective detection of esophagopharyngeal reflux in patients with hoarseness and endoscopic signs of laryngeal inflammation. J Clin Gastroenterol. 2014 Apr; 48(4):318-27. Hayat JO, Yazaki E, Moore AT, Hicklin L, Dettmar P, Kang JY, Sifrim D. PMID: 24172180.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    130. Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet. 2014 Aug 01; 23(15):4086-93. Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. PMID: 24688117.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    131. Visual consequences of molecular changes in the guanylate cyclase-activating protein. Invest Ophthalmol Vis Sci. 2014 Mar 28; 55(3):1930-40. Stockman A, Henning GB, Moore AT, Webster AR, Michaelides M, Ripamonti C. PMID: 24557353.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    132. Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond). 2014 May; 28(5):521-37. Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF. PMID: 24603424.
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    133. 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 18; 55(2):963-76. Ripamonti C, Aboshiha J, Henning GB, Sergouniotis PI, Michaelides M, Moore AT, Webster AR, Stockman A. PMID: 24425859.
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    134. 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 10; 55(2):832-40. Stockman A, Henning GB, Michaelides M, Moore AT, Webster AR, Cammack J, Ripamonti C. PMID: 24370833.
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    135. 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. Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR. PMID: 24480840.
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    136. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Ophthalmology. 2014 Jun; 121(6):1174-84. 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. PMID: 24480711.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    137. The extended clinical phenotype of dome-shaped macula. Graefes Arch Clin Exp Ophthalmol. 2014 Mar; 252(3):499-508. Errera MH, Michaelides M, Keane PA, Restori M, Paques M, Moore AT, Yeoh J, Chan D, Egan CA, Patel PJ, Tufail A. PMID: 24464468.
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    138. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet. 2014 Feb 06; 94(2):295-302. 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. PMID: 24462371.
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    139. Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. Acta Ophthalmol. 2014 Jun; 92(4):e331-2. Singh R, Fujinami K, Chen LL, Michaelides M, Moore AT. PMID: 24428930.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    140. Branch retinal artery occlusion secondary to prepapillary arterial loop. Retin Cases Brief Rep. 2014; 8(2):124-6. Singh R, Fujinami K, Moore AT. PMID: 25372326.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    141. A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat. 2014 Mar; 35(3):289-93. 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. PMID: 24375934.
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    142. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Invest Ophthalmol Vis Sci. 2013 Dec 17; 54(13):8181-90. Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M. PMID: 24265018.
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    143. 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. 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. PMID: 24281367.
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    144. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 05; 93(6):1143-50. 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. PMID: 24290379.
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    145. 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. 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. PMID: 24203976.
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    146. Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology. 2014 Feb; 121(2):580-7. Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR. PMID: 24199935.
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    147. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2013 Nov 07; 93(5):932-44. 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. PMID: 24183451.
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    148. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec; 24(12):993-1006. 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. PMID: 24067079.
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    149. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014 Jan; 121(1):234-245. 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. PMID: 24148654.
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    150. ABCA4 gene screening by next-generation sequencing in a British cohort. Invest Ophthalmol Vis Sci. 2013 Oct 11; 54(10):6662-74. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M. PMID: 23982839.
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    151. 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):1537-1546. 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, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. PMID: 23946133.
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    152. 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.
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    153. Fine central macular dots associated with childhood-onset Stargardt Disease. Acta Ophthalmol. 2014 Mar; 92(2):e157-9. Fujinami K, Singh R, Carroll J, Zernant J, Allikmets R, Michaelides M, Moore AT. PMID: 24020726.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    154. Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. Am J Ophthalmol. 2013 Sep; 156(3):487-501.e1. 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. PMID: 23953153.
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    155. 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. Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP. PMID: 23922384.
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    156. Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration. Hum Mol Genet. 2013 Dec 01; 22(23):4857-69. 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. PMID: 23873044.
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    157. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Hum Mol Genet. 2013 Dec 01; 22(23):4756-67. Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. PMID: 23847049.
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    158. A clinical molecular genetic service for United Kingdom families with choroideraemia. Eur J Med Genet. 2013 Aug; 56(8):432-8. Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC. PMID: 23811034.
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    159. The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology. 2013 Nov; 120(11):2324-31. Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. PMID: 23769331.
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    160. Understanding the expectations of patients with inherited retinal dystrophies. Br J Ophthalmol. 2013 Aug; 97(8):1057-61. Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M. PMID: 23740962.
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    161. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet. 2013 Dec; 21(12):1356-60. Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS. PMID: 23531866.
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    162. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Am J Ophthalmol. 2013 Jun; 155(6):1075-1088.e13. 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. PMID: 23499370.
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    163. 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. PMID: 23455636.
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    164. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology. 2013 Jul; 120(7):1454-64. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. PMID: 23453514.
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    165. Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. Invest Ophthalmol Vis Sci. 2013 Feb 15; 54(2):1361-9. McClements M, Davies WI, Michaelides M, Young T, Neitz M, MacLaren RE, Moore AT, Hunt DM. PMID: 23322568.
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    166. Understanding the impact of genetic testing for inherited retinal dystrophy. Eur J Hum Genet. 2013 Nov; 21(11):1209-13. Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. PMID: 23403902.
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    167. 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. McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM. PMID: 23337435.
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    168. 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. Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. PMID: 23281133.
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    169. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol. 2013 May; 91(3):e191-5. Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR. PMID: 23289492.
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    170. The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic. Invest Ophthalmol Vis Sci. 2012 Dec 05; 53(13):8006-15. 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. PMID: 23139274.
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    171. Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings. Arch Ophthalmol. 2012 Nov; 130(11):1470-3. Manzouri B, Sergouniotis PI, Robson AG, Webster AR, Moore A. PMID: 23143451.
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    172. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol. 2012 Dec; 154(6):987-1001.e1. 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. PMID: 22959359.
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    173. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):1040-5. 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. PMID: 22842227.
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    174. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci. 2012 Jun 22; 53(7):3927-38. 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. PMID: 22570351.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    175. 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. 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. PMID: 22694956.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    176. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci. 2012 May 14; 53(6):2873-9. 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. PMID: 22427576.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    177. Developmental macular disorders: phenotypes and underlying molecular genetic basis. Br J Ophthalmol. 2012 Jul; 96(7):917-24. Michaelides M, Jeffery G, Moore AT. PMID: 22517799.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    178. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS One. 2012; 7(3):e32330. 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. PMID: 22412862.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    179. 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. 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. PMID: 22284827.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    180. 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. 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. PMID: 22284829.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    181. 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. Tan MH, Vanakker OM, Tran HV, Robson AG, Lai-Cheong JE, Groves R, Holder GE, Moore AT. PMID: 22261738.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    182. 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.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    183. Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). Eur J Hum Genet. 2012 May; 20(5). Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. PMID: 22234150.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    184. Diagnostic and therapeutic challenges. Retina. 2012 Jan; 32(1):191-6. Tranos PG, Moore A, Pavesio C, Acharya NR, Johnson MW. PMID: 21886020.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    185. 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. 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. PMID: 22183383.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    186. Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology. 2012 Mar; 119(3):596-605. Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. PMID: 22182799.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    187. Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2. Br J Ophthalmol. 2012 May; 96(5):719-22. Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M. PMID: 22174098.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    188. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Invest Ophthalmol Vis Sci. 2011 Dec 02; 52(13):9304-9. Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR. PMID: 22039234.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    189. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet. 2011 Dec 09; 89(6):782-91. 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. PMID: 22137173.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    190. Retinal dystrophies and gene therapy. Eur J Pediatr. 2012 May; 171(5):757-65. Sundaram V, Moore AT, Ali RR, Bainbridge JW. PMID: 22080959.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    191. Complement factor D in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011 Nov 11; 52(12):8828-34. 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. PMID: 22003108.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    192. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. Acta Ophthalmol. 2012 May; 90(3):e192-7. Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR. PMID: 22008250.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    193. RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis. 2011; 17:2706-16. 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. PMID: 22065924.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    194. 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. 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. PMID: 21989362.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    195. The health-related quality of life of children with hereditary retinal disorders and the psychosocial impact on their families. Invest Ophthalmol Vis Sci. 2011 Oct 10; 52(11):7981-6. Hamblion EL, Moore AT, Rahi JS. PMID: 21900374.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    196. Genetic variation in complement regulators and susceptibility to age-related macular degeneration. Immunobiology. 2012 Feb; 217(2):158-61. Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C, Clayton DG, Moore AT, Yates JR. PMID: 22024702.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    197. 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. Brown CR, Moore AT, O'Brien VA. PMID: 21923265.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    198. 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.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    199. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa. Retina. 2011 Sep; 31(8):1670-9. Robson AG, Tufail A, Fitzke F, Bird AC, Moore AT, Holder GE, Webster AR. PMID: 21394059.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    200. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina. 2011 Sep; 31(8):1708-16. Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR. PMID: 21487335.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    201. Age-related macular degeneration: the importance of family history as a risk factor. Br J Ophthalmol. 2012 Mar; 96(3):427-31. Shahid H, Khan JC, Cipriani V, Sepp T, Matharu BK, Bunce C, Harding SP, Clayton DG, Moore AT, Yates JR. PMID: 21865200.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    202. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol. 2011 Aug; 129(8):1088-93. 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. PMID: 21825197.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    203. Macular dystrophy in Kabuki syndrome: a new clinical feature? J Pediatr Ophthalmol Strabismus. 2011 Jul 19; 48 Online:e40-2. Lindfield D, Griffiths MF, Thompson DA, Moore AT. PMID: 21766738.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    204. 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. Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. PMID: 21763485.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    205. A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. Eur J Hum Genet. 2011 Dec; 19(12):1289-91. Berry V, Ionides AC, Moore AT, Bhattacharya SS. PMID: 21731060.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    206. Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene. Arch Ophthalmol. 2011 Jul; 129(7):954-6. Mukhopadhyay R, Holder GE, Moore AT, Webster AR. PMID: 21746989.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    207. Integrity of the cone photoreceptor mosaic in oligocone trichromacy. Invest Ophthalmol Vis Sci. 2011 Jul 01; 52(7):4757-64. 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. PMID: 21436275.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    208. 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. Hamblion EL, Moore AT, Rahi JS. PMID: 21653210.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    209. High-resolution optical coherence tomography imaging in KCNV2 retinopathy. Br J Ophthalmol. 2012 Feb; 96(2):213-7. Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. PMID: 21558291.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    210. 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 09; 52(6):3032-8. Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. PMID: 21310915.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    211. A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. Mol Vis. 2011; 17:1249-53. Berry V, Francis PJ, Prescott Q, Waseem NH, Moore AT, Bhattacharya SS. PMID: 21633712.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    212. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Ophthalmology. 2011 Aug; 118(8):1661-70. Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. PMID: 21529959.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    213. 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.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    214. A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. Invest Ophthalmol Vis Sci. 2011 Mar 30; 52(3):1880-6. Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR. PMID: 20811058.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    215. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain. 2011 Mar; 134(Pt 3):892-902. 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. PMID: 21303855.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    216. Hereditary primary lateral sclerosis with cone dysfunction. Ophthalmic Genet. 2010 Dec; 31(4):221-6. Gore S, Carr L, Moore A, Thompson D. PMID: 21067484.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    217. Novel mutation in PANK2 associated with retinal telangiectasis. Br J Ophthalmol. 2011 Jan; 95(1):149-50. Sohn EH, Michaelides M, Bird AC, Roberts CJ, Moore AT, Smyth D, Brady AF, Hungerford JL. PMID: 20974629.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    218. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol. 2011 Jun; 95(6):811-7. Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. PMID: 20956273.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    219. Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. Eur J Hum Genet. 2011 Feb; 19(2):131-7. 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. PMID: 20859302.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    220. Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots. Retina. 2010 Sep; 30(8):1217-22. Kim DY, Hwang JC, Moore AT, Bird AC, Tsang SH. PMID: 20539258.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    221. 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. Yeoh J, Rahman W, Chen F, Hooper C, Patel P, Tufail A, Webster AR, Moore AT, Dacruz L. PMID: 20640437.
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    222. X-linked cone dystrophy caused by mutation of the red and green cone opsins. Am J Hum Genet. 2010 Jul 09; 87(1):26-39. 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. PMID: 20579627.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    223. Focus on molecules: centrosomal protein 290 (CEP290). Exp Eye Res. 2011 May; 92(5):316-7. Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. PMID: 20493186.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    224. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010 May; 31(5):E1361-76. 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. PMID: 20232351.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimals
    225. 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. 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. PMID: 20393116.
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    226. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Mol Vis. 2010 Apr 13; 16:650-64. Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER. PMID: 20405026.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    227. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis. 2010 Mar 09; 16:369-77. 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. PMID: 20300561.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    228. Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci. 2010 Jul; 51(7):3354-61. 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. PMID: 20181839.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    229. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology. 2010 Jun; 117(6):1199-1206.e1. Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE. PMID: 20171741.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    230. Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol Vis. 2010 Jan 15; 16:46-52. Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR. PMID: 20087419.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    231. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. Retina. 2010 Jan; 30(1):51-62. Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. PMID: 19952985.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    232. Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature. Ophthalmic Genet. 2009 Dec; 30(4):157-60. Gupta A, Vasudevan P, Biswas S, Smith JC, Moore AT, Lloyd C, Dutton G. PMID: 19852571.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    233. Genetics in ophthalmology: equity in service provision? J Public Health (Oxf). 2010 Jun; 32(2):259-66. Burton H, Alberg C, Moore AT. PMID: 19951987.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    234. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis. 2009 Nov 21; 15:2442-7. Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT. PMID: 19956411.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    235. Autofluorescence imaging in rubella retinopathy. Ocul Immunol Inflamm. 2009 Nov-Dec; 17(6):400-2. Goldberg N, Chou J, Moore A, Tsang S. PMID: 20001260.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    236. 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. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. PMID: 19878917.
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    237. Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). Ophthalmology. 2010 Jan; 117(1):120-127.e1. Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. PMID: 19818506.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    238. Childhood macular dystrophies. Curr Opin Ophthalmol. 2009 Sep; 20(5):363-8. Moore AT. PMID: 19587597.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    239. A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci. 2009 Dec; 50(12):5837-45. Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer EC, Berthoud VM. PMID: 19684000.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansAnimalsCells
    240. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis. 2009 May 18; 15:1014-9. Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. PMID: 19461930.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    241. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009 Jul 15; 18(14):2643-55. 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. PMID: 19414485.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    242. Blue cone monochromacy: causative mutations and associated phenotypes. Mol Vis. 2009; 15:876-84. Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ. PMID: 19421413.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    243. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009 May; 30(5):E603-11. 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. PMID: 19306328.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansCells
    244. 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. 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. PMID: 19367324.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimals
    245. Deficits in local and global motion perception arising from abnormal eye movements. J Vis. 2009 Apr 06; 9(4):9.1-15. Neveu MM, Jeffery G, Moore AT, Dakin SC. PMID: 19757918.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    246. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 2009 Jun; 50(6):2581-90. Hingorani M, Williamson KA, Moore AT, van Heyningen V. PMID: 19218613.
      View in: PubMed   Mentions: 41     Fields:    Translation:Humans
    247. 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. 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. PMID: 19200525.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    248. 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. Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL. PMID: 19098318.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    249. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug; 118(8):2908-16. 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. PMID: 18654668.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimalsCells
    250. Focus on molecules: retinol dehydrogenase 12 (RDH12). Exp Eye Res. 2008 Sep; 87(3):160-1. Moradi P, Mackay D, Hunt DM, Moore AT. PMID: 18599039.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    251. 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. Khan JC, Shahid H, Thurlby DA, Yates JR, Moore AT. PMID: 18569816.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    252. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008 May; 49(5):2082-93. 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. PMID: 18436841.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    253. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008 May 22; 358(21):2231-9. 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. PMID: 18441371.
      View in: PubMed   Mentions: 717     Fields:    Translation:HumansCellsCTClinical Trials
    254. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008 Jan-Feb; 53(1):16-40. Audo I, Robson AG, Holder GE, Moore AT. PMID: 18191655.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    255. 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. 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. PMID: 18055820.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    256. 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. Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE. PMID: 17985165.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    257. Clinical characterization and genetic mapping of North Carolina macular dystrophy. Vision Res. 2008 Feb; 48(3):470-7. Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. PMID: 17976682.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    258. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007 Aug 09; 357(6):553-61. 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. PMID: 17634448.
      View in: PubMed   Mentions: 327     Fields:    Translation:HumansCells
    259. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May; 125(5):714-5. Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT. PMID: 17502520.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    260. 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. Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM. PMID: 17485622.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    261. 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. Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM. PMID: 17454233.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    262. Residual cone vision without alpha-transducin. J Vis. 2007 Mar 23; 7(4):8. Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT. PMID: 17461692.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    263. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. J Med Genet. 2007 Jun; 44(6):373-80. 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. PMID: 17237123.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    264. Increased crystalline lens thickness and phacomorphic glaucoma in patients with Fanconi anemia. J Cataract Refract Surg. 2006 Oct; 32(10):1771-4. Elgohary MA, Lim KS, Siriwardena D, Moore AT, Wormald RP. PMID: 17010885.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    265. 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. 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. PMID: 16909397.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    266. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006 May-Jun; 51(3):232-58. Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. PMID: 16644365.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    267. 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. 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. PMID: 16532399.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    268. 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. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. PMID: 16431947.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansCells
    269. 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. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. PMID: 16019073.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    270. 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. Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. PMID: 15953638.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    271. X-linked cone dysfunction syndrome with myopia and protanopia. Ophthalmology. 2005 Aug; 112(8):1448-54. Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM. PMID: 15953640.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    272. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet. 2005 Sep; 117(5):452-9. Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. PMID: 15959809.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    273. 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. 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. PMID: 15914600.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    274. Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann Neurol. 2004 Oct; 56(4):503-9. Bamiou DE, Musiek FE, Sisodiya SM, Free SL, Davies RA, Moore A, van Heyningen V, Luxon LM. PMID: 15389894.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    275. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct; 45(10):3683-9. 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. PMID: 15452077.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansCells
    276. Fundus autofluorescence in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2004 Aug; 45(8):2747-52. Scholl HP, Chong NH, Robson AG, Holder GE, Moore AT, Bird AC. PMID: 15277500.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    277. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci. 2004 Jun; 45(6):1975-82. Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. PMID: 15161866.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    278. 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. Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A. PMID: 15370543.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    279. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol. 2004 May-Jun; 49(3):300-15. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. PMID: 15110667.
      View in: PubMed   Mentions: 98     Fields:    Translation:Humans
    280. A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol. 2004 Mar; 108(2):135-45. Bradshaw K, Allen L, Trump D, Hardcastle A, George N, Moore A. PMID: 15455796.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    281. Genetics of childhood cataract. Curr Opin Ophthalmol. 2004 Feb; 15(1):10-5. Francis PJ, Moore AT. PMID: 14743013.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    282. Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up. Ophthalmic Genet. 2003 Dec; 24(4):247-52. Cates CA, Dandekar SS, Flanagan DW, Moore AT. PMID: 14566654.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    283. Quantitative MR image analysis in subjects with defects in the PAX6 gene. Neuroimage. 2003 Dec; 20(4):2281-90. Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. PMID: 14683729.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    284. 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. Bradshaw K, Newman D, Allen L, Moore A. PMID: 14661905.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    285. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003 May; 53(5):658-63. Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. PMID: 12731001.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    286. 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. Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. PMID: 12714659.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    287. 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. Michaelides M, Johnson S, Poulson A, Bradshaw K, Bellmann C, Hunt DM, Moore AT. PMID: 12657606.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    288. 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. Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. PMID: 12659814.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    289. Mutations in the CACNA1F and NYX genes in British CSNBX families. Hum Mutat. 2003 Feb; 21(2):169. 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. PMID: 12552565.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    290. Optic disc drusen and peripapillary subretinal neovascular membranes in children. J Pediatr Ophthalmol Strabismus. 2002 Nov-Dec; 39(6):351-4. Wilson GA, Lloyd C, Moore AT. PMID: 12458848.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    291. 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. 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. PMID: 12036970.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    292. 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. Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. PMID: 12032732.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    293. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Jan 01; 11(1):87-92. 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. PMID: 11773002.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    294. Genetic mapping of X linked ocular albinism: linkage analysis in British families. J Med Genet. 1992 Aug; 29(8):552-4. Charles SJ, Moore AT, Yates JR. PMID: 1355560.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    295. 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. Moore AT, Maher ER, Koch DJ, Charles SJ. PMID: 1323091.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    296. Cone and cone-rod dystrophies. J Med Genet. 1992 May; 29(5):289-90. Moore AT. PMID: 1583653.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    297. Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol. 1992 May; 76(5):310-2. Cunliffe IA, Moffat DA, Hardy DG, Moore AT. PMID: 1390517.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    298. Screening for retinopathy of prematurity. Eye (Lond). 1992; 6 ( Pt 3):vii. Moore AT. PMID: 1446753.
      View in: PubMed   Mentions:    Fields:    Translation:HumansPHPublic Health
    299. Results of early surgery for infantile esotropia in normal and neurologically impaired infants. Eye (Lond). 1992; 6 ( Pt 6):603-6. Charles SJ, Moore AT. PMID: 1289137.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    300. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye (Lond). 1992; 6 ( Pt 1):75-9. Charles SJ, Moore AT, Grant JW, Yates JR. PMID: 1426406.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    301. Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet. 1991 Mar; 12(1):11-7. Williamson TH, Garner A, Moore AT. PMID: 1908964.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    302. Flecked retina associated with ring 17 chromosome. Br J Ophthalmol. 1991 Feb; 75(2):125-7. Charles SJ, Moore AT, Davison BC, Dyson HM, Willatt L. PMID: 1995042.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    303. Ophthalmological screening for von Hippel-Lindau disease. Eye (Lond). 1991; 5 ( Pt 6):723-8. Moore AT, Maher ER, Rosen P, Gregor Z, Bird AC. PMID: 1800174.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    304. Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy. Br J Ophthalmol. 1991 Jan; 75(1):9-12. Cunliffe IA, Flanagan DW, George ND, Aggarwaal RJ, Moore AT. PMID: 1991094.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    305. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990 Nov; 77(283):1151-63. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA. PMID: 2274658.
      View in: PubMed   Mentions: 166     Fields:    Translation:Humans
    306. Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet. 1990 Sep; 27(9):590-2. Charles SJ, Moore AT, Yates JR, Green T, Clark P. PMID: 2231654.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    307. Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli. Lancet. 1990 Mar 31; 335(8692):791. Maher ER, Moore AT. PMID: 1969532.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    308. 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. Inglehearn CF, Papiha SS, Jay M, Wright AF, Moore AT, Bhattacharya SS. PMID: 2106582.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    309. Ocular enlargement following infantile corneal opacification. Eye (Lond). 1990; 4 ( Pt 3):497-503. Twomey JM, Gilvarry A, Restori M, Kirkness CM, Moore AT, Holden AL. PMID: 2209916.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    310. Lisch nodules in neurofibromatosis type 2. Case report. Arch Ophthalmol. 1989 Nov; 107(11):1571-2. Charles SJ, Moore AT, Yates JR, Ferguson-Smith MA. PMID: 2510706.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    311. Familial Brown's syndrome. J Pediatr Ophthalmol Strabismus. 1988 Jul-Aug; 25(4):202-4. Moore AT, Walker J, Taylor D. PMID: 3045289.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    312. The dark choroid in posterior retinal dystrophies. Ophthalmology. 1987 Nov; 94(11):1423-7. Uliss AE, Moore AT, Bird AC. PMID: 3684216.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    Anthony's Networks
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