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Malena Daich Varela
Malena Daich Varela
在 ucl.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
1472022
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
512022
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
262023
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
232023
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
232021
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
202023
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
162020
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
142023
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
142022
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
142020
RDH12 retinopathy: clinical features, biology, genetics and future directions
M Daich Varela, M Michaelides
Ophthalmic Genetics 43 (3), 301-306, 2022
132022
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
132020
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
122023
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
102021
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
92020
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, 101244, 2024
72024
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot
MD Varela, WM Zein, C Toro, C Groden, J Johnston, LA Huryn, A d’Azzo, ...
British Journal of Ophthalmology 105 (6), 838-843, 2021
72021
Prognostication in stargardt disease using fundus autofluorescence: improving patient care
MD Varela, Y Laich, SA Hashem, OA Mahroo, AR Webster, M Michaelides
Ophthalmology 130 (11), 1182-1190, 2023
62023
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
62023
Ophthalmic genetics in South America
M Daich Varela, R Moya, PG Schlottmann, RB Hufnagel, C Arberas, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020
52020
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