Anthony Moore, MD
Professor Emeritus
Ophthalmology
School of Medicine

Awards

Show all (7) Hide

• Doyne Medal, Oxford Ophthalmological Congress UK, 2011
• Alcon Award, Alcon Research Institute, 2010
• Professor (by election), Academia Ophthalmologica Internationalis, 2009
• Duke-Elder Medal, Royal College of Ophthalmologists UK, 2009
• Transamerica Lecturer, University of California, San Francisco., 2006
• Elected Fellow, Academy of Medical Sciences UK, 2005
• Franceschetti Medal, International Society of Genetic Eye Disease, 2003

Education & Training

Show all (9) Hide

• Diversity, Equity, and Inclusion Champion Training University of California 2018
• FRCOphth Royal College of Ophthalmologists UK 1989
• Medical Retinal Fellowship Moorfields Eye Hospital 1985
• Pediatric Ophthalmology Fellowship Hospital for Sick Children, Toronto 1984
• Ophthalmology Residency Moorfields Eye Hospital London 1982
• FRCS Royal College of Surgeons of London 1981
• Internship Oxford University Clinical Medical School 1976
• BM BCh Medical School Oxford University 1975
• BA Animal Physiology Physiology Oxford University 1971

Publications (336)

Top publication keywords:
Retinal DystrophiesRetinal DegenerationElectroretinographyLeber Congenital AmaurosisDNA Mutational AnalysisMacular DegenerationRetinal DiseasesEye Diseases, HereditaryPedigreeRetinaRetinitis PigmentosaRetinal Cone Photoreceptor CellsEye ProteinsVisual AcuityMutation

• Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
  bioRxiv : the preprint server for biology 2023 Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, …
• IMI-Management and Investigation of High Myopia in Infants and Young Children.
  Investigative ophthalmology & visual science 2023 Flitcroft I, Ainsworth J, Chia A, Cotter S, Harb E, Jin ZB, Klaver CCW, Moore AT, Nischal KK, Ohno-Matsui K, Paysse EA, Repka MX, Smirnova IY, Snead M, Verhoeven VJM, Verkicharla PK
• Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
  Human molecular genetics 2023 Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, …
• Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.
  Ophthalmic genetics 2022 Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG
• Optogenetic approaches to therapy for inherited retinal degenerations.
  The Journal of physiology 2022 De Silva SR, Moore AT

Show all (331 more) Hide

• Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
  Investigative ophthalmology & visual science 2022 Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G, Genomics England Research Consortium
• Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.
  Ophthalmology. Retina 2022 Pennesi ME, Yang P, Birch DG, Weng CY, Moore AT, Iannaccone A, Comander JI, Jayasundera T, Chulay J, XLRS-001 Study Group
• Variability of retinopathy consequent upon novel mutations in LAMA1.
  Ophthalmic genetics 2022 Schiff ER, Aychoua N, Nutan S, Davagnanam I, Moore AT, Robson AG, Patel CK, Webster AR, Arno G
• WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
  American journal of ophthalmology 2022 Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, …
• SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
  Investigative ophthalmology & visual science 2021 Jurkute N, D'Esposito F, Robson AG, Pitceathly RDS, Cordeiro F, Raymond FL, Moore AT, Michaelides M, Yu-Wai-Man P, Webster AR, Arno G, Genomics England Research Consortium
• 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
  The New England journal of medicine 2021 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, …
• Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.
  Stem cell reports 2021 Chirco KR, Chew S, Moore AT, Duncan JL, Lamba DA
• Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
  Eye (London, England) 2021 Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M
• Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.
  American journal of human genetics 2021 Cipriani V, Tierney A, Griffiths JR, Zuber V, Sergouniotis PI, Yates JRW, Moore AT, Bishop PN, Clark SJ, Unwin RD
• Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
  Investigative ophthalmology & visual science 2021 Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, …
• 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.
  Retinal cases & brief reports 2021 Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG
• Transcription factor overexpression drives reliable differentiation of retinal pigment epithelium from human induced pluripotent stem cells.
  Stem cell research 2021 Dewell TE, Gjoni K, Liu AZ, Libby ARG, Moore AT, So PL, Conklin BR
• Mitochondrial Disorders and the Eye: A New Era for Diagnosis.
  Ophthalmology 2021 Moore AT, Yu-Wai-Man P
• Association of ambient air pollution with age-related macular degeneration and retinal thickness in UK Biobank.
  The British journal of ophthalmology 2021 Chua SYL, Warwick A, Peto T, Balaskas K, Moore AT, Reisman C, Desai P, Lotery AJ, Dhillon B, Khaw PT, Owen CG, Khawaja AP, Foster PJ, Patel PJ, UK Biobank Eye and Vision Consortium
• The genetic landscape of crystallins in congenital cataract.
  Orphanet journal of rare diseases 2020 Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M
• Response to: Comment on: Dark without pressure retinal changes in a paediatric age group.
  Eye (London, England) 2020 Pimentel MAF, Duncan JL, de Alba Campomanes AG, Moore AT
• Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
  Ophthalmology 2020 Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, Robson AG, Egan CA, Knight H, Calcagni A, Taylor RL, Lenassi E, Black GC, Moore AT, Michaelides M, Webster AR, Mahroo OA
• Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.
  The Laryngoscope 2020 Brodie KD, Moore AT, Slavotinek AM, Meyer AK, Nadaraja GS, Conrad DE, Weinstein JE, Chan DK
• Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
  Clinical genetics 2020 Islam F, Htun S, Lai LW, Krall M, Poranki M, Martin PM, Sobreira N, Wohler ES, Yu J, Moore AT, Slavotinek AM
• The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
  Progress in retinal and eye research 2020 De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
• Dark without pressure retinal changes in a paediatric age group.
  Eye (London, England) 2020 Flores Pimentel MA, Duncan JL, de Alba Campomanes AG, Moore A
• Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.
  Translational vision science & technology 2020 Khan KN, Borooah S, Lando L, Dans K, Mahroo OA, Meshi A, Kalitzeos A, Agorogiannis G, Moghimi S, Freeman WR, Webster AR, Moore AT, McKibbin M, Michaelides M
• Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
  Genes 2020 Berry V, Ionides A, Pontikos N, Moghul I, Moore AT, Quinlan RA, Michaelides M
• Congenital focal abnormalities of the retina and retinal pigment epithelium.
  Eye (London, England) 2020 Liu Y, Moore AT
• An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
  Genes 2020 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
• Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
  Ophthalmology 2020 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
• Multiexon deletion alleles of ATF6 linked to achromatopsia.
  JCI insight 2020 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
• Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches.
  The British journal of ophthalmology 2020 Berry V, Georgiou M, Fujinami K, Quinlan R, Moore A, Michaelides M
• A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
  Ophthalmic genetics 2020 Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M
• Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.
  Nature communications 2020 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
• The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
  Scientific reports 2020 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
• Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 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…
• SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
  Annals of neurology 2019 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-…
• Delineating the expanding phenotype associated with SCAPER gene mutation.
  American journal of medical genetics. Part A 2019 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, …
• Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
  Frontiers in physiology 2019 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, …
• Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
  Investigative ophthalmology & visual science 2019 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
• Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
  American journal of ophthalmology 2019 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
• PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort.
  Retina (Philadelphia, Pa.) 2019 Shona OA, Islam F, Robson AG, Webster AR, Moore AT, Michaelides M
• Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
  Human mutation 2019 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
• Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma.
  Ophthalmic surgery, lasers & imaging retina 2019 Stacey AW, Pefkianaki M, Ilginis T, Michaelides M, Hykin P, Webster A, Moore AT, Sagoo MS
• Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
  The British journal of ophthalmology 2019 Gill JS, Georgiou M, Kalitzeos A, Moore AT, Michaelides M
• Unilateral pigmentary retinopathy: a retrospective case series.
  Acta ophthalmologica 2018 Errera MH, Robson AG, Wong T, Hykin PG, Pal B, Sagoo MS, Pavesio CE, Moore AT, Webster AR, MacLaren RE, Holder GE
• Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.
  The British journal of ophthalmology 2018 Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M
• Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
  PLoS genetics 2018 Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, …
• Cobalamin D Deficiency Identified Through Newborn Screening.
  JIMD reports 2018 Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC
• Retinal findings in a patient with mutations in ABCC6 and ABCA4.
  Eye (London, England) 2018 Mahroo OA, Fujinami K, Moore AT, Webster AR
• Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
  Eye (London, England) 2018 Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M
• Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
  American journal of medical genetics. Part A 2018 Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A
• DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
  Retina (Philadelphia, Pa.) 2018 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
• THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.
  Retina (Philadelphia, Pa.) 2018 Khan KN, Islam F, Moore AT, Michaelides M
• Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
  American journal of ophthalmology 2018 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
• Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
  Ophthalmology 2018 Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M
• A clinical and molecular characterisation of CRB1-associated maculopathy.
  European journal of human genetics : EJHG 2018 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, UK Inherited …
• NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
  Retina (Philadelphia, Pa.) 2018 Khan KN, Islam F, Holder GE, Robson A, Webster AR, Moore AT, Michaelides M
• Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
  Ophthalmology 2018 Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M
• High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.
  American journal of ophthalmology 2017 Lew YJ, Rinella N, Qin J, Chiang J, Moore AT, Porco TC, Roorda A, Duncan JL
• Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.
  Ophthalmic epidemiology 2017 Liew G, Moore AT, Bradley PD, Webster AR, Michaelides M
• A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
  Ophthalmic genetics 2017 Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M
• Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.
  JAMA ophthalmology 2017 Cipriani V, Hogg RE, Sofat R, Moore AT, Webster AR, Yates JRW, Fletcher AE, European Eye (EUREYE) Study Group
• Genetic Testing for Inherited Retinal Disease.
  Ophthalmology 2017 Moore AT
• Revesz syndrome masquerading as traumatic retinal detachment.
  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2017 Moussa K, Huang JN, Moore AT
• Bullous X linked retinoschisis: clinical features and prognosis.
  The British journal of ophthalmology 2017 Hinds AM, Fahim A, Moore AT, Wong SC, Michaelides M
• Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK.
  The British journal of ophthalmology 2017 Moosajee M, Abbouda A, Foot B, Bunce C, Moore AT, Acheson J
• Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
  Scientific reports 2017 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
• Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
  Journal of the Endocrine Society 2017 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…
• Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
  The British journal of ophthalmology 2017 Kumaran N, Moore AT, Weleber RG, Michaelides M
• Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
  JAMA ophthalmology 2017 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, …
• FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
  Retina (Philadelphia, Pa.) 2017 Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M
• Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
  Investigative ophthalmology & visual science 2017 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,…
• Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
  JAMA ophthalmology 2017 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, …
• Benign Yellow Dot Maculopathy: A New Macular Phenotype.
  Ophthalmology 2017 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
• Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
  PloS one 2017 Lambertus S, Bax NM, Fakin A, Groenewoud JM, Klevering BJ, Moore AT, Michaelides M, Webster AR, van der Wilt GJ, Hoyng CB
• Childhood-onset Leber hereditary optic neuropathy.
  The British journal of ophthalmology 2017 Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P
• Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.
  Scientific reports 2017 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
• 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 genetics 2017 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
• Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
  Ophthalmic genetics 2017 Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT
• Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.
  Human genome variation 2017 Cheong SS, Hull S, Jones B, Chana R, Thornton N, Plagnol V, Moore AT, Hardcastle AJ
• Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
  JAMA ophthalmology 2017 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
• Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
  American journal of human genetics 2017 Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, UK Inherited Retinal Disease Consortium, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, NIHR Bioresource - Rare Diseases Consortium, …
• Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
  European journal of human genetics : EJHG 2017 Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M
• The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
  Investigative ophthalmology & visual science 2017 Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A
• Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
  American journal of human genetics 2016 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, …
• Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
  Ophthalmic genetics 2016 Khan KN, Carss K, Raymond FL, Islam F, Moore AT, Michaelides M, Arno G
• Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
  American journal of human genetics 2016 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, UKIRDC, …
• Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
  American journal of human genetics 2016 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
• The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
  Investigative ophthalmology & visual science 2016 Fakin A, Robson AG, Chiang JP, Fujinami K, Moore AT, Michaelides M, Holder GE, Webster AR
• Ophthalmomyiasis interna masquerading as orbital cellulitis.
  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2016 Fung SS, West SJ, Moore AT
• Ocular findings in a patient with fucosidosis.
  American journal of ophthalmology case reports 2016 Sánchez LR, Oatts JT, Duncan JL, Packman S, Moore AT
• Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
  Scientific reports 2016 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
• Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
  JAMA ophthalmology 2016 Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR
• Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
  JAMA ophthalmology 2016 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
• Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
  Investigative ophthalmology & visual science 2016 Fakin A, Robson AG, Fujinami K, Moore AT, Michaelides M, Pei-Wen Chiang J, E Holder G, Webster AR
• Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
  Investigative ophthalmology & visual science 2016 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
• Unusual Retinal Vascular Proliferation in von Hippel-Lindau Disease.
  JAMA ophthalmology 2016 Islam F, Hull S, Mansfield DC, Moore AT, Bird A
• The New Pretender: A Large UK Case Series of Retinal Injuries in Children Secondary to Handheld Lasers.
  American journal of ophthalmology 2016 Raoof N, Bradley P, Theodorou M, Moore AT, Michaelides M
• Clinical and Genetic Features of Choroideremia in Childhood.
  Ophthalmology 2016 Khan KN, Islam F, Moore AT, Michaelides M
• Analysis of copy number variation at DMBT1 and age-related macular degeneration.
  BMC medical genetics 2016 Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ
• Molecular and Clinical Findings in Patients With Knobloch Syndrome.
  JAMA ophthalmology 2016 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
• The clinical features of retinal disease due to a dominant mutation in RPE65.
  Molecular vision 2016 Hull S, Mukherjee R, Holder GE, Moore AT, Webster AR
• Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.
  Ophthalmic genetics 2016 Oatts JT, Hull S, Michaelides M, Arno G, Webster AR, Moore AT
• Unilateral BEST1-Associated Retinopathy.
  American journal of ophthalmology 2016 Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, Thompson DA, Moore AT, Michaelides M
• Investigation of SLA4A3 as a candidate gene for human retinal disease.
  Journal of negative results in biomedicine 2016 Downs LM, Webster AR, Moore AT, Michaelides M, Ali RR, Hardcastle AJ, Mellersh CS
• Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies.
  Translational vision science & technology 2016 Simunovic MP, Moore AT, MacLaren RE
• Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.
  Progress in retinal and eye research 2016 Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT
• Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
  PloS one 2016 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, …
• Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
  Cell stem cell 2016 Parfitt DA, Lane A, Ramsden CM, Carr AF, 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
• PAX6, brain structure and function in human adults: advanced MRI in aniridia.
  Annals of clinical and translational neurology 2016 Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM
• Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
  Investigative ophthalmology & visual science 2016 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
• Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
  The British journal of ophthalmology 2016 Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT
• Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.
  Ophthalmology 2016 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
• The ophthalmic presentation of Hermansky-Pudlak syndrome 6.
  The British journal of ophthalmology 2016 Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT
• A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
  Nature genetics 2015 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, …
• 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 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, …
• Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
  Ophthalmology 2015 Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE
• Electroretinogram assessment of children with sensorineural hearing loss: implications for screening.
  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2015 West SK, Hindocha M, Hogg CR, Holder GE, Moore AT, Reddy MA
• Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia).
  American journal of ophthalmology 2015 Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M
• Handheld OCT Comes of Age.
  Investigative ophthalmology & visual science 2015 Moore AT
• Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.
  European journal of human genetics : EJHG 2015 Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA
• Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
  Nature genetics 2015 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,…
• Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
  Acta ophthalmologica 2015 Balikova I, Robson AG, Holder GE, Ostergaard P, Mansour S, Moore AT
• Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
  American journal of ophthalmology 2015 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
• Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.
  American journal of medical genetics. Part A 2015 Hull S, Arno G, Thomson P, Mutch S, Webster AR, Rai H, Hill V, Moore AT
• Long-term effect of gene therapy on Leber's congenital amaurosis.
  The New England journal of medicine 2015 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 …
• Author reply: To PMID 24480711.
  Ophthalmology 2015 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
• Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
  Investigative ophthalmology & visual science 2015 Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT
• Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease.
  Ophthalmology 2015 Suzani M, Moore AT
• Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
  American journal of human genetics 2015 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 …
• Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa.
  Investigative ophthalmology & visual science 2015 Liew G, Moore AT, Webster AR, Michaelides M
• A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
  European journal of human genetics : EJHG 2015 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
• Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
  Journal of vision 2015 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
• Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.
  Acta ophthalmologica 2014 Hull S, Arno G, Plagnol V, Robson AG, Webster AR, Moore AT
• Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
  Journal of medical genetics 2014 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, …
• Genetic background and light-dependent progression of photoreceptor cell degeneration in Prominin-1 knockout mice.
  Investigative ophthalmology & visual science 2014 Dellett M, Sasai N, Nishide K, Becker S, Papadaki V, Limb GA, Moore AT, Kondo T, Ohnuma S
• The development of infantile nystagmus.
  The British journal of ophthalmology 2014 Theodorou M, Clement R, Taylor D, Moore A
• Clinical and molecular characterization of enhanced S-cone syndrome in children.
  JAMA ophthalmology 2014 Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT
• Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
  Human mutation 2014 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, …
• Differential light-induced responses in sectorial inherited retinal degeneration.
  The Journal of biological chemistry 2014 Ramon E, Cordomí A, Aguilà M, Srinivasan S, Dong X, Moore AT, Webster AR, Cheetham ME, Garriga P
• Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
  Nature genetics 2014 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, …
• Clinical and molecular characteristics of childhood-onset Stargardt disease.
  Ophthalmology 2014 Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT
• Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.
  Investigative ophthalmology & visual science 2014 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
• The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
  Investigative ophthalmology & visual science 2014 Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson AG, Holder GE, Moore AT, Webster AR
• Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
  Investigative ophthalmology & visual science 2014 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
• Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.
  Investigative ophthalmology & visual science 2014 Aboshiha J, Luong V, Cowing J, Dubis AM, Bainbridge JW, Ali RR, Webster AR, Moore AT, Fitzke FW, Michaelides M
• A prospective longitudinal study of retinal structure and function in achromatopsia.
  Investigative ophthalmology & visual science 2014 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
• Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
  JAMA ophthalmology 2014 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
• Prph2 mutations as a cause of electronegative ERG.
  Retina (Philadelphia, Pa.) 2014 Ba-Abbad R, Robson AG, Yap YC, Moore AT, Webster AR, Holder GE
• Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
  American journal of human genetics 2014 Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, UCL-Exomes Consortium, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
• Dispersing hemipteran vectors have reduced arbovirus prevalence.
  Biology letters 2014 Moore AT, Brown CR
• Objective detection of esophagopharyngeal reflux in patients with hoarseness and endoscopic signs of laryngeal inflammation.
  Journal of clinical gastroenterology 2014 Hayat JO, Yazaki E, Moore AT, Hicklin L, Dettmar P, Kang JY, Sifrim D
• Abnormal retinal development associated with FRMD7 mutations.
  Human molecular genetics 2014 Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I
• Visual consequences of molecular changes in the guanylate cyclase-activating protein.
  Investigative ophthalmology & visual science 2014 Stockman A, Henning GB, Moore AT, Webster AR, Michaelides M, Ripamonti C
• Treatment strategies for inherited optic neuropathies: past, present and future.
  Eye (London, England) 2014 Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF
• Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways.
  Investigative ophthalmology & visual science 2014 Ripamonti C, Aboshiha J, Henning GB, Sergouniotis PI, Michaelides M, Moore AT, Webster AR, Stockman A
• Cone dystrophy with "supernormal" rod ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function.
  Investigative ophthalmology & visual science 2014 Stockman A, Henning GB, Michaelides M, Moore AT, Webster AR, Cammack J, Ripamonti C
• A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.
  Eye (London, England) 2014 Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR
• Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
  Ophthalmology 2014 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
• The extended clinical phenotype of dome-shaped macula.
  Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2014 Errera MH, Michaelides M, Keane PA, Restori M, Paques M, Moore AT, Yeoh J, Chan D, Egan CA, Patel PJ, Tufail A
• Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
  American journal of human genetics 2014 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, UK10K Consortium, …
• Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype.
  Acta ophthalmologica 2014 Singh R, Fujinami K, Chen LL, Michaelides M, Moore AT
• Branch retinal artery occlusion secondary to prepapillary arterial loop.
  Retinal cases & brief reports 2014 Singh R, Fujinami K, Moore AT
• A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
  Human mutation 2013 Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT
• A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.
  Investigative ophthalmology & visual science 2013 Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M
• Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
  European journal of human genetics : EJHG 2013 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 …
• Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
  American journal of human genetics 2013 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, …
• Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
  Journal of medical genetics 2013 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, …
• Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
  Ophthalmology 2013 Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR
• Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
  American journal of human genetics 2013 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, …
• Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
  Human gene therapy 2013 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
• Retinal structure and function in achromatopsia: implications for gene therapy.
  Ophthalmology 2013 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
• ABCA4 gene screening by next-generation sequencing in a British cohort.
  Investigative ophthalmology & visual science 2013 Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M
• Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
  Human mutation 2013 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, …
• Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
  Nature genetics 2013 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, …
• Fine central macular dots associated with childhood-onset Stargardt Disease.
  Acta ophthalmologica 2013 Fujinami K, Singh R, Carroll J, Zernant J, Allikmets R, Michaelides M, Moore AT
• Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
  American journal of ophthalmology 2013 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
• Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
  Journal of medical genetics 2013 Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP
• Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
  Human molecular genetics 2013 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…
• Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
  Human molecular genetics 2013 Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE
• A clinical molecular genetic service for United Kingdom families with choroideraemia.
  European journal of medical genetics 2013 Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC
• The clinical effect of homozygous ABCA4 alleles in 18 patients.
  Ophthalmology 2013 Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR
• Understanding the expectations of patients with inherited retinal dystrophies.
  The British journal of ophthalmology 2013 Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M
• Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
  European journal of human genetics : EJHG 2013 Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS
• A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
  American journal of ophthalmology 2013 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
• Seven new loci associated with age-related macular degeneration.
  Nature genetics 2013 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, …
• A phenotype-genotype correlation study of X-linked retinoschisis.
  Ophthalmology 2013 Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE
• Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.
  Investigative ophthalmology & visual science 2013 McClements M, Davies WI, Michaelides M, Young T, Neitz M, MacLaren RE, Moore AT, Hunt DM
• Understanding the impact of genetic testing for inherited retinal dystrophy.
  European journal of human genetics : EJHG 2013 Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G
• X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.
  Vision research 2013 McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM
• RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
  Human mutation 2013 Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR
• Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
  Acta ophthalmologica 2013 Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR
• The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
  Investigative ophthalmology & visual science 2012 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, …
• Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings.
  Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Manzouri B, Sergouniotis PI, Robson AG, Webster AR, Moore A
• Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
  American journal of ophthalmology 2012 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
• NMNAT1 mutations cause Leber congenital amaurosis.
  Nature genetics 2012 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 …
• Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
  Investigative ophthalmology & visual science 2012 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
• Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
  Human molecular genetics 2012 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, …
• Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
  Investigative ophthalmology & visual science 2012 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 …
• Developmental macular disorders: phenotypes and underlying molecular genetic basis.
  The British journal of ophthalmology 2012 Michaelides M, Jeffery G, Moore AT
• Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
  PloS one 2012 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, …
• Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
  American journal of human genetics 2012 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, …
• X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
  American journal of human genetics 2012 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, …
• Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.
  Eye (London, England) 2012 Tan MH, Vanakker OM, Tran HV, Robson AG, Lai-Cheong JE, Groves R, Holder GE, Moore AT
• Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.
  International journal of epidemiology 2012 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, …
• Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
  European journal of human genetics : EJHG 2012 Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD
• A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
  Advances in experimental medicine and biology 2012 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
• Diagnostic and therapeutic challenges.
  Retina (Philadelphia, Pa.) 2012 Tranos PG, Moore A, Pavesio C, Acharya NR, Johnson MW
• Retinal structure, function, and molecular pathologic features in gyrate atrophy.
  Ophthalmology 2011 Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR
• Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
  The British journal of ophthalmology 2011 Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M
• Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
  Investigative ophthalmology & visual science 2011 Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR
• Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
  American journal of human genetics 2011 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
• Retinal dystrophies and gene therapy.
  European journal of pediatrics 2011 Sundaram V, Moore AT, Ali RR, Bainbridge JW
• Complement factor D in age-related macular degeneration.
  Investigative ophthalmology & visual science 2011 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, …
• A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
  Acta ophthalmologica 2011 Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR
• RDH12 retinopathy: novel mutations and phenotypic description.
  Molecular vision 2011 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
• No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.
  European journal of human genetics : EJHG 2011 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
• The health-related quality of life of children with hereditary retinal disorders and the psychosocial impact on their families.
  Investigative ophthalmology & visual science 2011 Hamblion EL, Moore AT, Rahi JS
• Genetic variation in complement regulators and susceptibility to age-related macular degeneration.
  Immunobiology 2011 Cipriani V, Matharu BK, Khan JC, Shahid H, Stanton CM, Hayward C, Wright AF, Bunce C, Clayton DG, Moore AT, Yates JR
• Prevalence of Buggy Creek virus (Togaviridae: Alphavirus) in insect vectors increases over time in the presence of an invasive avian host.
  Vector borne and zoonotic diseases (Larchmont, N.Y.) 2011 Brown CR, Moore AT, O'Brien VA
• Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.
  Human mutation 2011 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, …
• Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
  Retina (Philadelphia, Pa.) 2011 Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR
• Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa.
  Retina (Philadelphia, Pa.) 2011 Robson AG, Tufail A, Fitzke F, Bird AC, Moore AT, Holder GE, Webster AR
• Age-related macular degeneration: the importance of family history as a risk factor.
  The British journal of ophthalmology 2011 Shahid H, Khan JC, Cipriani V, Sepp T, Matharu BK, Bunce C, Harding SP, Clayton DG, Moore AT, Yates JR, Genetic Factors in AMD Study Group
• Childhood-onset autosomal recessive bestrophinopathy.
  Archives of ophthalmology (Chicago, Ill. : 1960) 2011 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
• Macular dystrophy in Kabuki syndrome: a new clinical feature?
  Journal of pediatric ophthalmology and strabismus 2011 Lindfield D, Griffiths MF, Thompson DA, Moore AT
• Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
  American journal of human genetics 2011 Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR
• A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
  European journal of human genetics : EJHG 2011 Berry V, Ionides AC, Moore AT, Bhattacharya SS
• Integrity of the cone photoreceptor mosaic in oligocone trichromacy.
  Investigative ophthalmology & visual science 2011 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
• Unilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene.
  Archives of ophthalmology (Chicago, Ill. : 1960) 2011 Mukhopadhyay R, Holder GE, Moore AT, Webster AR
• Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK.
  The British journal of ophthalmology 2011 Hamblion EL, Moore AT, Rahi JS, British Childhood Onset Hereditary Retinal Disorders Network
• High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
  The British journal of ophthalmology 2011 Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT
• Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
  Investigative ophthalmology & visual science 2011 Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT
• A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
  Molecular vision 2011 Berry V, Francis PJ, Prescott Q, Waseem NH, Moore AT, Bhattacharya SS
• Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
  Ophthalmology 2011 Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR
• Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.
  American journal of epidemiology 2011 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, …
• A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
  Investigative ophthalmology & visual science 2011 Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR
• The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
  Brain : a journal of neurology 2011 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…
• Hereditary primary lateral sclerosis with cone dysfunction.
  Ophthalmic genetics 2010 Gore S, Carr L, Moore A, Thompson D
• Novel mutation in PANK2 associated with retinal telangiectasis.
  The British journal of ophthalmology 2010 Sohn EH, Michaelides M, Bird AC, Roberts CJ, Moore AT, Smyth D, Brady AF, Hungerford JL
• Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
  The British journal of ophthalmology 2010 Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT
• Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
  European journal of human genetics : EJHG 2010 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
• Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots.
  Retina (Philadelphia, Pa.) 2010 Kim DY, Hwang JC, Moore AT, Bird AC, Tsang SH
• Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography.
  Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2010 Yeoh J, Rahman W, Chen F, Hooper C, Patel P, Tufail A, Webster AR, Moore AT, Dacruz L
• X-linked cone dystrophy caused by mutation of the red and green cone opsins.
  American journal of human genetics 2010 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
• Focus on molecules: centrosomal protein 290 (CEP290).
  Experimental eye research 2010 Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT
• Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
  Human mutation 2010 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, …
• The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
  Investigative ophthalmology & visual science 2010 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…
• Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
  Molecular vision 2010 Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER
• Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
  Molecular vision 2010 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
• Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
  Investigative ophthalmology & visual science 2010 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
• Macular function assessed by microperimetry in patients with enhanced S-cone syndrome.
  Ophthalmology 2010 Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE
• Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
  Molecular vision 2010 Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR
• "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
  Retina (Philadelphia, Pa.) 2010 Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE
• Genetics in ophthalmology: equity in service provision?
  Journal of public health (Oxford, England) 2009 Burton H, Alberg C, Moore AT
• Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature.
  Ophthalmic genetics 2009 Gupta A, Vasudevan P, Biswas S, Smith JC, Moore AT, Lloyd C, Dutton G
• A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
  Molecular vision 2009 Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT
• Autofluorescence imaging in rubella retinopathy.
  Ocular immunology and inflammation 2009 Goldberg N, Chou J, Moore A, Tsang S
• Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
  American journal of human genetics 2009 Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR
• Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
  Ophthalmology 2009 Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR
• Childhood macular dystrophies.
  Current opinion in ophthalmology 2009 Moore AT
• A mutant connexin50 with enhanced hemichannel function leads to cell death.
  Investigative ophthalmology & visual science 2009 Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer EC, Berthoud VM
• Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
  Molecular vision 2009 Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER
• X-linked cataract and Nance-Horan syndrome are allelic disorders.
  Human molecular genetics 2009 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, …
• Blue cone monochromacy: causative mutations and associated phenotypes.
  Molecular vision 2009 Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
• Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
  Human mutation 2009 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
• BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
  European journal of human genetics : EJHG 2009 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,…
• Deficits in local and global motion perception arising from abnormal eye movements.
  Journal of vision 2009 Neveu MM, Jeffery G, Moore AT, Dakin SC
• Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
  Investigative ophthalmology & visual science 2009 Hingorani M, Williamson KA, Moore AT, van Heyningen V
• Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
  American journal of human genetics 2009 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,…
• Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.
  Investigative ophthalmology & visual science 2008 Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL
• Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
  The Journal of clinical investigation 2008 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, …
• Focus on molecules: retinol dehydrogenase 12 (RDH12).
  Experimental eye research 2008 Moradi P, Mackay D, Hunt DM, Moore AT
• Charles Bonnet syndrome in age-related macular degeneration: the nature and frequency of images in subjects with end-stage disease.
  Ophthalmic epidemiology 2008 Khan JC, Shahid H, Thurlby DA, Yates JR, Moore AT
• Phenotypic variation in enhanced S-cone syndrome.
  Investigative ophthalmology & visual science 2008 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
• Effect of gene therapy on visual function in Leber's congenital amaurosis.
  The New England journal of medicine 2008 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, …
• The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.
  Survey of ophthalmology 2008 Audo I, Robson AG, Holder GE, Moore AT
• An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
  Investigative ophthalmology & visual science 2007 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
• Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.
  Documenta ophthalmologica. Advances in ophthalmology 2007 Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE
• Clinical characterization and genetic mapping of North Carolina macular dystrophy.
  Vision research 2007 Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K
• Complement C3 variant and the risk of age-related macular degeneration.
  The New England journal of medicine 2007 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, Genetic Factors in AMD Study …
• Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.
  Archives of pediatrics & adolescent medicine 2007 Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM
• Autofluorescence imaging in a case of benign familial fleck retina.
  Archives of ophthalmology (Chicago, Ill. : 1960) 2007 Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT
• Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation.
  International journal of audiology 2007 Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM
• Residual cone vision without alpha-transducin.
  Journal of vision 2007 Stockman A, Smithson HE, Michaelides M, Moore AT, Webster AR, Sharpe LT
• Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
  Journal of medical genetics 2007 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
• Increased crystalline lens thickness and phacomorphic glaucoma in patients with Fanconi anemia.
  Journal of cataract and refractive surgery 2006 Elgohary MA, Lim KS, Siriwardena D, Moore AT, Wormald RP
• Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
  American journal of human genetics 2006 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
• Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
  Survey of ophthalmology 2006 Michaelides M, Hardcastle AJ, Hunt DM, Moore AT
• Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
  American journal of human genetics 2006 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
• Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers.
  Investigative ophthalmology & visual science 2006 Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR
• Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
  Ophthalmology 2005 Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT
• Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
  Ophthalmology 2005 Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR
• X-linked cone dysfunction syndrome with myopia and protanopia.
  Ophthalmology 2005 Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM
• Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
  Human genetics 2005 Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER
• Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
  Investigative ophthalmology & visual science 2005 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
• Deficient auditory interhemispheric transfer in patients with PAX6 mutations.
  Annals of neurology 2004 Bamiou DE, Musiek FE, Sisodiya SM, Free SL, Davies RA, Moore A, van Heyningen V, Luxon LM
• Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
  Investigative ophthalmology & visual science 2004 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
• Fundus autofluorescence in patients with leber congenital amaurosis.
  Investigative ophthalmology & visual science 2004 Scholl HP, Chong NH, Robson AG, Holder GE, Moore AT, Bird AC
• Progressive cone dystrophy associated with mutation in CNGB3.
  Investigative ophthalmology & visual science 2004 Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM
• Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).
  Ophthalmic genetics 2004 Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A
• Molecular genetic basis of inherited cataract and associated phenotypes.
  Survey of ophthalmology 2004 Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT
• A comparison of ERG abnormalities in XLRS and XLCSNB.
  Documenta ophthalmologica. Advances in ophthalmology 2004 Bradshaw K, Allen L, Trump D, Hardcastle A, George N, Moore A
• Genetics of childhood cataract.
  Current opinion in ophthalmology 2004 Francis PJ, Moore AT
• Quantitative MR image analysis in subjects with defects in the PAX6 gene.
  NeuroImage 2003 Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM
• Retinopathy of incontinentia pigmenti: a case report with thirteen years follow-up.
  Ophthalmic genetics 2003 Cates CA, Dandekar SS, Flanagan DW, Moore AT
• Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness.
  Documenta ophthalmologica. Advances in ophthalmology 2003 Bradshaw K, Newman D, Allen L, Moore A
• An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
  Investigative ophthalmology & visual science 2003 Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT
• Polymicrogyria and absence of pineal gland due to PAX6 mutation.
  Annals of neurology 2003 Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM
• An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.
  Investigative ophthalmology & visual science 2003 Michaelides M, Johnson S, Poulson A, Bradshaw K, Bellmann C, Hunt DM, Moore AT
• Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
  Genomics 2003 Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM
• Mutations in the CACNA1F and NYX genes in British CSNBX families.
  Human mutation 2003 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
• A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
  Investigative ophthalmology & visual science 2002 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
• Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
  European journal of human genetics : EJHG 2002 Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF
• Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
  Human molecular genetics 2002 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
• Genetic mapping of X linked ocular albinism: linkage analysis in British families.
  Journal of medical genetics 1992 Charles SJ, Moore AT, Yates JR
• Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC).
  Ophthalmic paediatrics and genetics 1992 Moore AT, Maher ER, Koch DJ, Charles SJ
• Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2.
  The British journal of ophthalmology 1992 Cunliffe IA, Moffat DA, Hardy DG, Moore AT
• Cone and cone-rod dystrophies.
  Journal of medical genetics 1992 Moore AT
• Genetic counselling in X-linked ocular albinism: clinical features of the carrier state.
  Eye (London, England) 1992 Charles SJ, Moore AT, Grant JW, Yates JR
• Results of early surgery for infantile esotropia in normal and neurologically impaired infants.
  Eye (London, England) 1992 Charles SJ, Moore AT
• Screening for retinopathy of prematurity.
  Eye (London, England) 1992 Moore AT
• Structure of Lisch nodules in neurofibromatosis type 1.
  Ophthalmic paediatrics and genetics 1991 Williamson TH, Garner A, Moore AT
• Flecked retina associated with ring 17 chromosome.
  The British journal of ophthalmology 1991 Charles SJ, Moore AT, Davison BC, Dyson HM, Willatt L
• Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy.
  The British journal of ophthalmology 1991 Cunliffe IA, Flanagan DW, George ND, Aggarwaal RJ, Moore AT
• Ophthalmological screening for von Hippel-Lindau disease.
  Eye (London, England) 1991 Moore AT, Maher ER, Rosen P, Gregor Z, Bird AC
• Clinical features and natural history of von Hippel-Lindau disease.
  The Quarterly journal of medicine 1990 Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA
• Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.
  Journal of medical genetics 1990 Charles SJ, Moore AT, Yates JR, Green T, Clark P
• Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli.
  Lancet (London, England) 1990 Maher ER, Moore AT
• Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.
  Journal of medical genetics 1990 Inglehearn CF, Papiha SS, Jay M, Wright AF, Moore AT, Bhattacharya SS
• Ocular enlargement following infantile corneal opacification.
  Eye (London, England) 1990 Twomey JM, Gilvarry A, Restori M, Kirkness CM, Moore AT, Holden AL
• Lisch nodules in neurofibromatosis type 2. Case report.
  Archives of ophthalmology (Chicago, Ill. : 1960) 1989 Charles SJ, Moore AT, Yates JR, Ferguson-Smith MA
• Familial Brown's syndrome.
  Journal of pediatric ophthalmology and strabismus 1988 Moore AT, Walker J, Taylor D
• The dark choroid in posterior retinal dystrophies.
  Ophthalmology 1987 Uliss AE, Moore AT, Bird AC