| Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions TAC de Guimaraes, MD Varela, M Georgiou, M Michaelides British Journal of Ophthalmology 106 (3), 297-304, 2022 | 178 | 2022 |
| Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials MD Varela, TAC de Guimaraes, M Georgiou, M Michaelides British Journal of Ophthalmology 106 (4), 445-451, 2022 | 66 | 2022 |
| Artificial intelligence in retinal disease: clinical application, challenges, and future directions M Daich Varela, S Sen, TAC De Guimaraes, N Kabiri, N Pontikos, ... Graefe's Archive for Clinical and Experimental Ophthalmology 261 (11), 3283-3297, 2023 | 49 | 2023 |
| Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies … M Georgiou, AG Robson, K Fujinami, TAC de Guimarães, ... Progress in retinal and eye research 100, 101244, 2024 | 37 | 2024 |
| CRB1-associated retinal dystrophies: genetics, clinical characteristics, and natural history MD Varela, M Georgiou, Y Alswaiti, J Kabbani, K Fujinami, ... American Journal of Ophthalmology 246, 107-121, 2023 | 31 | 2023 |
| Structural evaluation in inherited retinal diseases MD Varela, B Esener, SA Hashem, TAC de Guimaraes, M Georgiou, ... British Journal of Ophthalmology 105 (12), 1623-1631, 2021 | 30 | 2021 |
| SynthEye: investigating the impact of synthetic data on artificial intelligence-assisted gene diagnosis of inherited retinal disease YA Veturi, W Woof, T Lazebnik, I Moghul, P Woodward-Court, SK Wagner, ... Ophthalmology Science 3 (2), 100258, 2023 | 28 | 2023 |
| Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies M Daich Varela, J Bellingham, F Motta, N Jurkute, JM Ellingford, ... Human molecular genetics 32 (4), 595-607, 2023 | 23 | 2023 |
| Functional evaluation in inherited retinal disease MD Varela, M Georgiou, SA Hashem, RG Weleber, M Michaelides British Journal of Ophthalmology 106 (11), 1479-1487, 2022 | 20 | 2022 |
| The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature MD Varela, P Jani, WM Zein, P D'Souza, L Wolfe, J Chisholm, C Zalewski, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 20 | 2020 |
| Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes MD Varela, A Georgiadis, M Michaelides British Journal of Ophthalmology 107 (9), 1223-1230, 2023 | 18 | 2023 |
| A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C … ER Schiff, M Daich Varela, AG Robson, K Pierpoint, R Ba‐Abbad, S Nutan, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 18 | 2020 |
| Spectrum of genetic variants in the most common genes causing inherited retinal disease in a large molecularly characterized United Kingdom cohort S Lin, S Vermeirsch, N Pontikos, MP Martin-Gutierrez, MD Varela, ... Ophthalmology Retina 8 (7), 699-709, 2024 | 16 | 2024 |
| Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) Q Nguyen, W Woof, N Kabiri, S Sen, MD Varela, TAC De Guimaraes, ... BMJ open 13 (3), e071043, 2023 | 15 | 2023 |
| PDE6C: novel mutations, atypical phenotype, and differences among children and adults MD Varela, E Ullah, S Yousaf, BP Brooks, RB Hufnagel, LA Huryn Investigative Ophthalmology & Visual Science 61 (12), 1-1, 2020 | 14 | 2020 |
| Coats-like vasculopathy in inherited retinal disease: prevalence, characteristics, genetics, and management MD Varela, GM Conti, S Malka, V Vaclavik, OA Mahroo, AR Webster, ... Ophthalmology 130 (12), 1327-1335, 2023 | 13 | 2023 |
| RDH12 retinopathy: clinical features, biology, genetics and future directions M Daich Varela, M Michaelides Ophthalmic Genetics 43 (3), 301-306, 2022 | 13 | 2022 |
| Ocular and systemic findings in adults with uveal coloboma MD Varela, LA Huryn, RB Hufnagel, WM Zein, D Blain, BP Brooks Ophthalmology 127 (12), 1772-1774, 2020 | 12 | 2020 |
| Gene therapy in X-linked retinitis pigmentosa due to defects in RPGR M Georgiou, SA Hashem, MD Varela, M Michaelides International Ophthalmology Clinics 61 (4), 97-108, 2021 | 11 | 2021 |
| Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning N Pontikos, W Woof, A Veturi, B Javanmardi, M Ibarra-Arellano, A Hustinx, ... | 9 | 2022 |
