Michaelides, Michel

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

Macular dystrophies: Clinical and imaging features, molecular genetics and therapeutic options

Rahman, N., Georgiou, M., Khan, K. N., & Michaelides, M. (2020) · British Journal of Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 139

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

Aligianis, I. A., Forshew, T., Johnson, S., Michaelides, M., Johnson, C. A., Trembath, R. C., Hunt, D. M., Moore, A. T., & Maher, E. R. (2002) · Journal of Medical Genetics

Retinal Development and DisordersPhotoreceptor and optogenetics research

Cited by 130

The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective

Galvin, O., Chi, G., Brady, L., Hippert, C., Del Valle Rubido, M., Daly, A., & Michaelides, M. (2020) · Clinical Ophthalmology

Retinal Development and DisordersHealth Systems, Economic Evaluations, Quality of Life

Cited by 116

Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65

Georgiadis, A., Duran, Y., Ribeiro, J., Abelleira-Hervas, L., Robbie, S. J., Sünkel-Laing, B., Fourali, S., Gonzalez-Cordero, A., Cristante, E., Michaelides, M., et al. (2016) · Gene Therapy

Retinal Development and DisordersVirus-based gene therapy research

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

Phase 1/2 AAV5-hRKp.RPGR (botaretigene sparoparvovec) gene therapy: safety and efficacy in RPGR-associated X-linked retinitis pigmentosa

MICHAELIDES, M., BESIRLI, C. G., YANG, Y., DE GUIMARAES, T. A. C., WONG, S. C., HUCKFELDT, R. M., COMANDER, J. I., SAHEL, J.-A., SHAH, S. M., TEE, J. J. L., et al. (2024) · American Journal of Ophthalmology

Retinal Development and DisordersVirus-based gene therapy research

Cited by 55

First-in-Human gene therapy trial of AAV8-hCARp.hCNGB3 in adults and children with CNGB3-associated achromatopsia

Michaelides, M., Hirji, N., Wong, S. C., Besirli, C. G., Zaman, S., Kumaran, N., Georgiadis, A., Smith, A. J., Ripamonti, C., Gottlob, I., et al. (2023) · American Journal of Ophthalmology

Retinal Development and DisordersVirus-based gene therapy research

Cited by 54

Retinal Structure in RPE65-Associated Retinal Dystrophy

Kumaran, N., Georgiou, M., Bainbridge, J. W. B., Bertelsen, M., Larsen, M., Blanco-Kelly, F., Ayuso, C., Tran, H. V., Munier, F. L., Kalitzeos, A., et al. (2020) · 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

Cited by 41

Genetic treatment for autosomal dominant inherited retinal dystrophies: Approaches, challenges and targeted genotypes

Daich Varela, M., Georgiadis, A., & Michaelides, M. (2023) · British Journal of Ophthalmology

Retinal Development and DisordersVirus-based gene therapy research

Cited by 30

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

Cited by 26

Retinal detachment in retinitis pigmentosa

Chan, W. O., Brennan, N., Webster, A. R., Michaelides, M., & Muqit, M. M. K. (2020) · BMJ Open Ophthalmology

Retinal and Macular SurgeryRetinal Diseases and Treatments

Cited by 19

Macula-predominant retinopathy associated with biallelic variants in RDH12

Ba-Abbad, R., Arno, G., Robson, A. G., Bouras, K., Georgiou, M., Wright, G., Webster, A. R., & Michaelides, M. (2020) · Ophthalmic Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 16