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Eva Lenassi

Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up-Regulation of Macrophages
2010 · Jaimie Hoh Kam, Eva Lenassi, et al. · PLoS ONE · 134
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
2015 · Eva Lenassi, Ajoy Vincent, et al. · European Journal of Human Genetics · 124
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Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy
2011 · Panagiotis I. Sergouniotis, Alice E. Davidson, et al. · Ophthalmology · 119
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
2014 · Panagiotis I. Sergouniotis, Christina Chakarova, et al. · The American Journal of Human Genetics · 90
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Complement Component C3 Plays a Critical Role in Protecting the Aging Retina in a Murine Model of Age-Related Macular Degeneration
2013 · Jaimie Hoh Kam, Eva Lenassi, et al. · American Journal Of Pathology · 82
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
2020 · Valentina Cipriani, Nikolas Pontikos, et al. · Genes · 69
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
2019 · Eva Lenassi, Jill Clayton-Smith, et al. · Genetics in Medicine · 62
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VEP maturation and visual acuity in infants and preschool children
2008 · Eva Lenassi, Katarina Likar, et al. · Documenta Ophthalmologica · 62
Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina
2011 · Panagiotis I. Sergouniotis, Alice E. Davidson, et al. · The American Journal of Human Genetics · 51
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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
2013 · Heather B Steele-Stallard, Polona Le Quesne Stabej, et al. · Orphanet Journal of Rare Diseases · 50
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Correlation between Macular Morphology and Sensitivity in Patients with Retinitis Pigmentosa and Hyperautofluorescent Ring
2011 · Eva Lenassi, Eric Troeger, et al. · Investigative Ophthalmology & Visual Science · 45
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
2019 · Omamah A. Jiman, Rachel L. Taylor, et al. · European Journal of Human Genetics · 38
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Comparison of Fundus Autofluorescence with Photopic and Scotopic Fine Matrix Mapping in Patients with Retinitis Pigmentosa: 4- to 8-Year Follow-up
2012 · Anthony G. Robson, Eva Lenassi, et al. · Investigative Ophthalmology & Visual Science · 37
Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation
2013 · Eva Lenassi, Zubin Saihan, et al. · Ophthalmology · 36
The effect of the common c.2299delG mutation in USH2A on RNA splicing
2014 · Eva Lenassi, Zubin Saihan, et al. · Experimental Eye Research · 31
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
2022 · Malena Daich Varela, James Bellingham, et al. · Human Molecular Genetics · 29
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Efficacy of 12-month treatment of neovascular age-related macular degeneration with intravitreal bevacizumab based on individually determined injection strategies after three consecutive monthly injections
2009 · Polona Jaki Mekjavic, Aleksandra Kraut, et al. · Acta Ophthalmologica · 26
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The Value of Two-field Pattern Electroretinogram in Routine Clinical Electrophysiologic Practice
2011 · Eva Lenassi, Anthony G Robson, et al. · Retina · 24
Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease
2009 · E Lenassi, M Jarc-Vidmar, et al. · British Journal of Ophthalmology · 19
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
2021 · David J. Green, Eva Lenassi, et al. · Investigative Ophthalmology & Visual Science · 18
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment
2017 · Eva Lenassi, Grace Vassallo, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 18
Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures
2016 · Polona Jaki Mekjavic, Eva Lenassi, et al. · Journal of Applied Physiology · 18
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy
2020 · Alexander Tanner, Hwei Wuen Chan, et al. · Ophthalmology · 17
Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation
2020 · Leslie P. Molina-Ramírez, Eva Lenassi, et al. · Otology & Neurotology · 17
Clinical Heterogeneity in a Family With Mutations inUSH2A
2014 · Eva Lenassi, Anthony G. Robson, et al. · JAMA Ophthalmology · 15
Works count: 51
Citation count: 1,280
H-index: 19
I10-index: 27
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