Eva Lenassi

Manchester Royal Eye Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

19h-index1.2kcitations53works0.02yr avg
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Research Topics

Retinal Development and Disorders(22), Retinal Diseases and Treatments(21), Retinal Imaging and Analysis(7), Hearing, Cochlea, Tinnitus, Genetics(6), Retinal and Optic Conditions(6)

Publications52 total

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course
Journal of Neurology·2024
Bestrophin 1 treatment trial on the effectiveness of Ravicti
http://isrctn.com/·2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Journal of Medical Genetics·2023· 8 citedOpen Access
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Human Molecular Genetics·2022· 29 citedOpen Access
Contributors
Elsevier eBooks·2022
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
2021· 2 citedOpen Access
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
Investigative Ophthalmology & Visual Science·2021· 16 citedOpen Access
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
2021· 3 citedOpen Access
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Genetics in Medicine·2020Open Access
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy
Ophthalmology·2020· 16 citedOpen Access
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
Genes·2020· 65 citedOpen Access
Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation
Otology & Neurotology·2020· 15 citedOpen Access
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
Genetics in Medicine·2019· 62 citedOpen Access
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
European Journal of Human Genetics·2019· 32 citedOpen Access
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment
Journal of American Association for Pediatric Ophthalmology and Strabismus·2017· 16 cited
Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis
Journal of Neuro-Ophthalmology·2016· 13 cited
Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures
Journal of Applied Physiology·2016· 17 cited
Atypical presentation of <scp>CRB</scp>1 retinopathy
Acta Ophthalmologica·2016· 7 citedOpen Access
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
European Journal of Human Genetics·2015· 119 citedOpen Access
FemHab: The effect of acute hypercapnia during hypoxic bedrest on posterior eye structures in females
2015
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Frequent Co-authors

Andrew R. Webster(19), Panagiotis I. Sergouniotis(12), Graeme C. Black(12), Marko Hawlina(12), Jamie M. Ellingford(9), Anthony T. Moore(8), Anthony G. Robson(8), Zubin Saihan(7), Maria Bitner‐Glindzicz(7), Simon Ramsden(7), Glen Jeffery(6), Linda Luxon(6), Michel Michaelides(6), Jane Ashworth(6), Polona Jaki Mekjavič(6), Gavin Arno(5), Graham E. Holder(5), Claire Hardcastle(5), Tracy Fletcher(5), Jaimie Hoh Kam(4)