Moore, Anthony T.

Effect of gene therapy on visual function in Leber’s congenital amaurosis

Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine

Retinal Development and DisordersVirus-based gene therapy research

Cited by 1,924

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 1,544

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 1,330

Complement C3 variant and the risk of age-related macular degeneration

Yates, J. R. W., Sepp, T., Matharu, B. K., Khan, J. C., Thurlby, D. A., Shahid, H., Clayton, D. G., Hayward, C., Morgan, J., Wright, A. F., et al. (2007) · New England Journal of Medicine

Retinal Diseases and TreatmentsComplement system in diseases

Cited by 829

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

Bainbridge, J. W. B., Mehat, M. S., Sundaram, V., Robbie, S. J., Barker, S. E., Ripamonti, C., Georgiadis, A., Mowat, F. M., Beattie, S. G., Gardner, P. J., et al. (2015) · New England Journal of Medicine

Retinal Development and DisordersVirus-based gene therapy research

Cited by 743

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017) · British Journal of Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 334

Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers

Sepp, T., Khan, J. C., Thurlby, D. A., Shahid, H., Clayton, D. G., Moore, A. T., Bird, A. C., & Yates, J. R. W. (2006) · Investigative Opthalmology & Visual Science

Retinal Diseases and TreatmentsComplement system in diseases

Cited by 186

Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

McKay, G. J., Patterson, C. C., Chakravarthy, U., Dasari, S., Klaver, C. C., Vingerling, J. R., Ho, L., de Jong, P. T. V. M., Fletcher, A. E., Young, I. S., et al. (2011) · Human Mutation

Retinal Diseases and TreatmentsRetinal Imaging and Analysis

Cited by 151

Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Sergouniotis, P. I., Sohn, E. H., Li, Z., McBain, V. A., Wright, G. A., Moore, A. T., Robson, A. G., Holder, G. E., & Webster, A. R. (2011) · Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 109

Age-related macular degeneration: The importance of family history as a risk factor

Shahid, H., Khan, J. C., Cipriani, V., Sepp, T., Matharu, B. K., Bunce, C., Harding, S. P., Clayton, D. G., Moore, A. T., Yates, J. R. W., et al. (2012) · British Journal of Ophthalmology

Retinal Diseases and TreatmentsRetinal Imaging and Analysis

Cited by 84

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)

Scholl, H. P. N., Moore, A. T., Koenekoop, R. K., Wen, Y., Fishman, G. A., van den Born, L. I., Bittner, A., Bowles, K., Fletcher, E. C., Collison, F. T., et al. (2015) · PLOS ONE

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 71

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., et al. (2020) · Scientific Reports

Genetic Associations and EpidemiologyRetinal Diseases and Treatments

Cited by 60

Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic Study

Dev Borman, A., Ocaka, L. A., Mackay, D. S., Ripamonti, C., Henderson, R. H., Moradi, P., Hall, G., Black, G. C., Robson, A. G., Holder, G. E., et al. (2012) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 44

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

Khan, K. N., Carss, K., Raymond, F. L., Islam, F., NIHR BioResource-Rare Diseases Consortium, Moore, A. T., Michaelides, M., & Arno, G. (2017) · Ophthalmic Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

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