Malena Daich Varela - Concepedia

Author

Malena Daich Varela

University College London ORCID

Also Known As

M. Daich Varela, Malena Daich Varela, Saoud Al-Khuzaei

Publications

Citations

H-Index

Concepts

All Affiliations

University College London Moorfields Eye Hospital Tokyo Medical Center National Hospital Organization Moorfields Eye Hospital NHS Foundation Trust

About

Malena Daich Varela is an author at University College London specializing in medicine, ophthalmology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	158
2	Engineering	2	2	31
3	Pathology	2	2	32
4	Genetic Medicine	1	1	18
5	Genomic Medicine	1	1	18

Malena Daich Varela

Publications

510

Citations

H-Index

Page 1

	Year	Citations
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, Progress in Retinal and Eye Research Ocular DiseaseRetinaOphthalmologyGeneticsLeber Hereditary Optic Neuropathy	2024	95
SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease Yoga Advaith Veturi, William Woof, Teddy Lazebnik, Ophthalmology Science	2022	50
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History Malena Daich Varela, Michalis Georgiou, Yahya AlSwaiti, American Journal of Ophthalmology	2022	47
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, Ophthalmology Retina	2024	34
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, BMJ Open	2023	31
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Human Molecular Genetics	2022	29
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in <scp><i>HGSNAT</i></scp>, the gene associated with Sanfilippo C mucopolysaccharidosis Elena Schiff, Malena Daich Varela, Anthony G. Robson, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2020	24
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature Malena Daich Varela, Priyam Jani, Wadih M. Zein, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2020	21
Coats-like Vasculopathy in Inherited Retinal Disease Malena Daich Varela, Giovanni Conti, Samantha Malka, Ophthalmology	2023	20
RDH12 retinopathy: clinical features, biology, genetics and future directions Malena Daich Varela, Michel Michaelides Ophthalmic Genetics Ocular DiseaseRetinaOphthalmologyExperimental OphthalmologyGenetics	2022	19

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