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Number of items: 80.
Article
Ajamil-Rodanes, S;
Testi, I;
Luis, J;
Robson, AG;
Westcott, M;
Pavesio, C;
(2020)
Evaluation of fluocinolone acetonide 0.19 mg intravitreal implant in the management of birdshot retinochoroiditis.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-317372.
(In press).
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Arno, Gavin;
Hull, Sarah;
Robson, Anthony G;
Holder, Graham E;
Cheetham, Michael E;
Webster, Andrew R;
Plagnol, Vincent;
(2015)
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Investigative Ophthalmology and Visual Science
, 56
(4)
pp. 2358-2365.
10.1167/iovs.15-16520.
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Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
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Arno, G;
Hull, S;
Carss, K;
Dev-Borman, A;
Chakarova, C;
Bujakowska, K;
van den Born, I;
... Webster, AR; + view all
(2016)
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4806-4813.
10.1167/iovs.16-19687.
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Arora, R;
Khan, K;
Kasilian, ML;
Strauss, RW;
Holder, GE;
Robson, AG;
Thompson, DA;
... Michaelides, M; + view all
(2016)
Unilateral BEST1-Associated Retinopathy.
American Journal of Ophthalmology
, 169
pp. 24-32.
10.1016/j.ajo.2016.05.024.
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Ba-Abbad, R;
Arno, G;
Robson, AG;
Bouras, K;
Georgiou, M;
Wright, G;
Webster, AR;
(2020)
Macula-predominant retinopathy associated with biallelic variants in RDH12.
Ophthalmic Genetics
, 41
(6)
pp. 612-615.
10.1080/13816810.2020.1802763.
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Ba-Abbad, R;
Holder, GE;
Robson, AG;
Neveu, MM;
Waseem, N;
Arno, G;
Webster, AR;
(2019)
Isolated rod dysfunction associated with a novel genotype of CNGB1.
American Journal of Ophthalmology Case Reports
, 14
pp. 83-86.
10.1016/j.ajoc.2019.03.004.
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Ba-Abbad, R;
Robson, AG;
MacPhee, B;
Webster, AR;
Michaelides, M;
(2019)
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.
Ophthalmic Genetics
, 40
(2)
pp. 188-189.
10.1080/13816810.2019.1605393.
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Ba-Abbad, R;
Robson, AG;
Mahroo, OA;
Wright, G;
Schiff, E;
Duignan, ES;
Michaelides, M;
... Webster, AR; + view all
(2020)
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Eye
10.1038/s41433-020-1045-3.
(In press).
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Bertrand, RE;
Wang, J;
Xiong, KH;
Thangavel, C;
Qian, X;
Ba-Abbad, R;
Liang, Q;
... Chen, R; + view all
(2021)
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genetics in Medicine
, 23
pp. 488-497.
10.1038/s41436-020-01003-x.
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Bouzia, Z;
Georgiou, M;
Hull, S;
Robson, AG;
Fujinami, K;
Rotsos, T;
Pontikos, N;
... Michaelides, M; + view all
(2019)
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
American Journal of Ophthalmology
10.1016/j.ajo.2019.10.019.
(In press).
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Casalino, G;
Khan, KN;
Armengol, M;
Wright, G;
Pontikos, N;
Georgiou, M;
Webster, AR;
... Michaelides, M; + view all
(2020)
Autosomal recessive bestrophinopathy: clinical features, natural history and genetic findings in preparation for clinical trials.
Ophthalmology
10.1016/j.ophtha.2020.10.006.
(In press).
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da Cruz, L;
Fynes, K;
Georgiadis, O;
Kerby, J;
Luo, YH;
Ahmado, A;
Vernon, A;
... Coffey, PJ; + view all
(2018)
Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration.
Nature Biotechnology
, 36
(4)
pp. 328-337.
10.1038/nbt.4114.
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Daich Varela, Malena;
Romo-Aguas, Juan Carlo;
Guarascio, Rosellina;
Ziaka, Kalliopi;
Aguila, Monica;
Hau, Kwan-Leong;
Li, Yumei;
... Michaelides, Michel; + view all
(2025)
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical Trials.
Investigative Ophthalmology Visual Science
, 66
(9)
, Article 69. 10.1167/iovs.66.9.69.
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De Carvalho, ER;
Robson, AG;
Arno, G;
Boon, C;
Webster, AA;
Michaelides, M;
(2020)
Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients.
Ophthalmology Retina
10.1016/j.oret.2020.07.008.
(In press).
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de Guimaraes, Thales AC;
Georgiou, Michalis;
Robson, Anthony G;
Fujinami, Kaoru;
Vincent, Ajoy;
Nasser, Fadi;
Khateb, Samer;
... Michaelides, Michel; + view all
(2023)
KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3.
British Journal of Ophthalmology
10.1136/bjo-2023-323640.
(In press).
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De Silva, SR;
Arno, G;
Robson, AG;
Fakin, A;
Pontikos, N;
Mohamed, MD;
Bird, A;
... Mahroo, OA; + view all
(2020)
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
Progress in Retinal and Eye Research
, Article 100898. 10.1016/j.preteyeres.2020.100898.
(In press).
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Dhoble, Pankaja;
Robson, Anthony G;
Webster, Andrew R;
Michaelides, Michel;
(2024)
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Ophthalmic Genetics
, 45
(1)
pp. 38-43.
10.1080/13816810.2023.2188227.
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Errera, M-H;
Robson, AG;
Wong, T;
Hykin, PG;
Pal, B;
Sagoo, MS;
Pavesio, CE;
... Holder, GE; + view all
(2018)
Unilateral pigmentary retinopathy: a retrospective case series.
Acta Ophthalmol
10.1111/aos.13981.
(In press).
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Fakin, A;
Robson, AG;
Chiang, JP;
Fujinami, K;
Moore, AT;
Michaelides, M;
Holder, GE;
(2016)
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
Investigative Ophthalmology & Visual Science
, 57
(14)
pp. 5963-5973.
10.1167/iovs.16-20446.
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Fakin, A;
Robson, AG;
Fujinami, K;
Moore, AT;
Michaelides, M;
Pei-Wen Chiang, J;
E Holder, G;
(2016)
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4668-4678.
10.1167/iovs.16-19829.
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Fasham, J;
Arno, G;
Lin, S;
Xu, M;
Carss, KJ;
Hull, S;
Lane, A;
... NIHR Bioresource Rare Diseases Consortium; + view all
(2019)
Delineating the expanding phenotype associated with SCAPER gene mutation.
[Letter].
American Journal of Medical Genetics Part A
, 179
(8)
pp. 1665-1671.
10.1002/ajmg.a.61202.
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Fiorentino, A;
Fujinami, K;
Arno, G;
Robson, AG;
Pontikos, N;
Arasanz Armengol, M;
Plagnol, V;
... 100,000 Genomes Project, the Japan Eye Genetic Consortium & the; + view all
(2018)
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Human Mutation
, 39
(1)
pp. 80-91.
10.1002/humu.23349.
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Fujinami, K;
Zernant, J;
Chana, RK;
Wright, GA;
Tsunoda, K;
Ozawa, Y;
Tsubota, K;
... Moore, AT; + view all
(2015)
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease.
Ophthalmology
, 122
(2)
326 - 334.
10.1016/j.ophtha.2014.08.012.
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Gardner, JC;
Liew, G;
Quan, YH;
Ermetal, B;
Ueyama, H;
Davidson, AE;
Schwarz, N;
... Hardcastle, AJ; + view all
(2014)
Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.
Hum Mutat
, 35
(11)
pp. 1354-1362.
10.1002/humu.22679.
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Georgiou, M;
Fujinami, K;
Vincent, A;
Nasser, F;
Khateb, S;
Vargas, ME;
Thiadens, AAHJ;
... Michaelides, M; + view all
(2021)
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2.
American Journal of Ophthalmology
, 230
pp. 1-11.
10.1016/j.ajo.2021.03.004.
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Georgiou, M;
Robson, AG;
Fujinami, K;
Leo, SM;
Vincent, A;
Nasser, F;
Cabral De Guimarães, TA;
... Michaelides, M; + view all
(2021)
KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course – KCNV2 Study Group Report 1.
American Journal of Ophthalmology
, 225
pp. 95-107.
10.1016/j.ajo.2020.11.022.
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Georgiou, Michalis;
Robson, Anthony G;
Fujinami, Kaoru;
de Guimarães, Thales AC;
Fujinami-Yokokawa, Yu;
Daich Varela, Malena;
Pontikos, Nikolas;
... Michaelides, Michel; + view all
(2024)
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes.
Progress in Retinal and Eye Research
, 100
, Article 101244. 10.1016/j.preteyeres.2024.101244.
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Georgiou, M;
Ali, N;
Yang, E;
Grewal, PS;
Rotsos, T;
Pontikos, N;
Robson, AG;
(2021)
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 128. 10.1186/s13023-021-01759-8.
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Georgiou, M;
Robson, AG;
Singh, N;
Pontikos, N;
Kane, T;
Hirji, N;
Ripamonti, C;
... Michaelides, M; + view all
(2019)
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Investigative Ophthalmology & Visual Science
, 60
(15)
pp. 5112-5123.
10.1167/iovs.19-27761.
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Georgiou, M;
Singh, N;
Kane, T;
Robson, AG;
Kalitzeos, A;
Hirji, N;
Webster, AR;
... Michaelides, M; + view all
(2020)
Photoreceptor Structure in GNAT2-Associated Achromatopsia.
Investigative Ophthalmology & Visual Science
, 61
(3)
, Article 40. 10.1167/iovs.61.3.40.
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Guimaraes, TACD;
Georgiou, M;
Robson, AG;
Michaelides, M;
(2020)
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Ophthalmic Genetics
10.1080/13816810.2020.1766087.
(In press).
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Hirji, N;
Bradley, PD;
Li, S;
Vincent, A;
Pennesi, ME;
Thomas, AS;
Heon, E;
... Michaelides, M; + view all
(2018)
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta.
American Journal of Ophthalmology
, 188
pp. 123-130.
10.1016/j.ajo.2018.01.029.
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Hoffmann, MB;
Bach, M;
Kondo, M;
Li, S;
Walker, S;
Holopigian, K;
Viswanathan, S;
(2021)
ISCEV standard for clinical multifocal electroretinography (mfERG) (2021 update).
Documenta Ophthalmologica
, 142
(1)
pp. 5-16.
10.1007/s10633-020-09812-w.
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Hull, S;
Arno, G;
Ku, CA;
Ge, Z;
Waseem, N;
Chandra, A;
Webster, AR;
... Moore, AT; + view all
(2016)
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
JAMA Ophthalmology
, 134
(7)
pp. 753-762.
10.1001/jamaophthalmol.2016.1073.
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Hull, S;
Arno, G;
Ostergaard, P;
Pontikos, N;
Robson, AG;
Webster, AR;
Hogg, CR;
... Michaelides, M; + view all
(2019)
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
American Journal of Ophthalmology
, 207
pp. 87-98.
10.1016/j.ajo.2019.05.001.
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Hull, S;
Arno, G;
Robson, AG;
Broadgate, S;
Plagnol, V;
McKibbin, M;
Halford, S;
... Webster, AR; + view all
(2016)
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
JAMA Ophthalmol
, 134
(9)
pp. 992-1000.
10.1001/jamaophthalmol.2016.2089.
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Hull, S;
Attanasio, M;
Arno, G;
Carss, K;
Robson, AG;
Thompson, DA;
Plagnol, V;
... Webster, AR; + view all
(2017)
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
JAMA Ophthalmol
, 135
(2)
pp. 137-144.
10.1001/jamaophthalmol.2016.5213.
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Jolly, Jasleen K;
Simunovic, Matthew P;
Dubis, Adam M;
Josan, Amandeep S;
Robson, Anthony G;
Bellini, Marco P;
Bloch, Edward;
... MacLaren, Robert E; + view all
(2021)
Structural and Functional Characteristics of Color Vision Changes in Choroideremia.
Frontiers in Neuroscience
, 15
, Article 729807. 10.3389/fnins.2021.729807.
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Jurkute, N;
Bertacchi, M;
Arno, G;
Tocco, C;
Kim, US;
Kruszewski, AM;
Avery, RA;
... Yu-Wai-Man, P; + view all
(2021)
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Brain Communications
, 3
(3)
, Article fcab162. 10.1093/braincomms/fcab162.
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Jurkute, N;
D'Esposito, F;
Robson, AG;
Pitceathly, RDS;
Cordeiro, F;
Raymond, FL;
Moore, AT;
... Genomics England Research Consortium; + view all
(2021)
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Investigative Ophthalmology & Visual Science
, 62
(15)
, Article 12. 10.1167/iovs.62.15.12.
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Jurkute, N;
Robson, AG;
(2021)
Electrophysiology in neuro-ophthalmology.
Handbook of Clinical Neurology
, 178
pp. 79-96.
10.1016/B978-0-12-821377-3.00019-2.
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Jurkute, N;
Leu, C;
Pogoda, H-M;
Arno, G;
Robson, AG;
Nürnberg, G;
Altmüller, J;
... Votruba, M; + view all
(2019)
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Annals of Neurology
, 86
(3)
pp. 368-383.
10.1002/ana.25550.
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Jurkute, N;
Shanmugarajah, PD;
Hadjivassiliou, M;
Higgs, J;
Vojcic, M;
Horrocks, I;
Nadjar, Y;
... Genomics England Research Consortium, .; + view all
(2021)
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Investigative Ophthalmology & Visual Science
, 62
(6)
, Article 2. 10.1167/iovs.62.6.2.
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Khan, KN;
Islam, F;
Holder, GE;
Robson, A;
Webster, AR;
Moore, AT;
Michaelides, M;
(2018)
Normal Electrooculography in Best Disease and Autosomal Recessive Bestrophinopathy.
Retina
, 38
(2)
pp. 379-386.
10.1097/IAE.0000000000001523.
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Khan, KN;
Kasilian, M;
Mahroo, OAR;
Tanna, P;
Kalitzeos, A;
Robson, AG;
Tsunoda, K;
... Michaelides, M; + view all
(2018)
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology
, 125
(5)
pp. 735-746.
10.1016/j.ophtha.2017.11.020.
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Khan, KN;
Robson, A;
Mahroo, OAR;
Arno, G;
Inglehearn, CF;
Armengol, M;
Waseem, N;
... UK Inherited Retinal Disease Consortium, .; + view all
(2018)
A clinical and molecular characterisation of CRB1-associated maculopathy.
European Journal of Human Genetics
, 26
pp. 687-694.
10.1038/s41431-017-0082-2.
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Kleerekooper, I;
Del Porto, L;
Dell'Arti, L;
Guajardo, J;
Leo, S;
Robson, AG;
Trip, SA;
... Holder, GE; + view all
(2022)
Pattern ERGs suggest a possible retinal contribution to the visual acuity loss in acute optic neuritis.
Documenta Ophthalmologica
, 145
pp. 185-195.
10.1007/s10633-022-09896-6.
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Kong, X;
Fujinami, K;
Strauss, RW;
Munoz, B;
West, SK;
Cideciyan, AV;
Michaelides, M;
... ProgStar Study Group; + view all
(2018)
Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease
ProgStar Study Report No. 10.
JAMA Ophthalmology
, 136
(8)
pp. 920-928.
10.1001/jamaophthalmol.2018.2198.
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Kong, X;
Strauss, RW;
Michaelides, M;
Cideciyan, AV;
Sahel, J-A;
Munoz, B;
West, S;
... Grp, PS; + view all
(2016)
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).
Ophthalmology
, 123
(9)
pp. 1887-1897.
10.1016/j.ophtha.2016.05.027.
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Kumaran, N;
Robson, AG;
Michaelides, M;
(2021)
A Novel Case Series Of NMNAT1-Associated Early-Onset Retinal Dystrophy: Extending the Phenotypic Spectrum.
Retinal Cases & Brief Reports
, 15
(2)
pp. 139-144.
10.1097/ICB.0000000000000754.
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Leo, Shaun;
Neveu, Magella M;
Yu-Wai-Man, Patrick;
Mahroo, Omar A;
Robson, Anthony G;
(2023)
The Diagnostic Accuracy of Photopic Negative Responses Evoked by Broadband and Chromatic Stimuli in a Clinically Heterogeneous Population.
Documenta Ophthalmologica
10.1007/s10633-023-09956-5.
(In press).
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Mahroo, OA;
Khan, KN;
Wright, G;
Ockrim, Z;
Scalco, RS;
Robson, AG;
Tufail, A;
... Webster, AR; + view all
(2019)
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
, 126
(2)
pp. 320-322.
10.1016/j.ophtha.2018.09.013.
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Majander, Anna;
Jurkute, Neringa;
Burté, Florence;
Brock, Kristian;
João, Catarina;
Huang, Houbin;
Neveu, Magella M;
... Yu-Wai-Man, Patrick; + view all
(2022)
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
American Journal of Ophthalmology
, 241
pp. 9-27.
10.1016/j.ajo.2022.04.003.
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Majander, A;
Robson, AG;
João, C;
Holder, GE;
Chinnery, PF;
Moore, AT;
Votruba, M;
... Yu-Wai-Man, P; + view all
(2017)
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.
Mitochondrion
, 36
pp. 138-149.
10.1016/j.mito.2017.07.006.
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McCulloch, Daphne L;
Bach, Michael;
Brigell, Mitchell;
Chan, Hoover;
Hamilton, Ruth;
Hogg, Chris;
Odom, J Vernon;
(2023)
ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update).
Documenta Ophthalmologica
, 146
(3)
pp. 199-210.
10.1007/s10633-023-09932-z.
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Mehat, MS;
Sundaram, V;
Ripamonti, C;
Robson, AG;
Smith, AJ;
Borooah, S;
Robinson, M;
... Bainbridge, JWB; + view all
(2018)
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.
Ophthalmology
, 125
(11)
pp. 1765-1775.
10.1016/j.ophtha.2018.04.037.
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Muthiah, MN;
Kalitzeos, A;
Oprych, K;
Singh, N;
Georgiou, M;
Wright, GA;
Robson, AG;
... Michaelides, M; + view all
(2021)
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318034.
(In press).
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Neveu, MM;
Padhy, SK;
Ramamurthy, S;
Takkar, B;
Jalali, S;
Deepika, CP;
Padhi, TR;
(2022)
Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
Clinical Ophthalmology
, 16
pp. 1569-1587.
10.2147/OPTH.S329282.
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Occelli, LM;
Daruwalla, A;
De Silva, SR;
Winkler, PA;
Sun, K;
Pasmanter, N;
Minella, A;
... Petersen-Jones, SM; + view all
(2022)
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