Malena Daich Varela

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

Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami et al. · Progress in Retinal and Eye Research · 2024 · 95 citations

Ocular Disease, Retina, Ophthalmology +8

SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease

Yoga Advaith Veturi, William Woof, Teddy Lazebnik et al. · Ophthalmology Science · 2022 · 50 citations · Full text

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

Malena Daich Varela, Michalis Georgiou, Yahya AlSwaiti et al. · American Journal of Ophthalmology · 2022 · 47 citations · Full text

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Siying Lin, Sandra Vermeirsch, Nikolas Pontikos et al. · Ophthalmology Retina · 2024 · 34 citations · Full text

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

Quang Nguyen, William Woof, Nathaniel Kabiri et al. · BMJ Open · 2023 · 31 citations · Full text