Publications by authors named "Eva Lenassi"

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A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.
Shakya Bhattacharjee, Eva Lenassi, Robert W Taylor, Andrew M Schaefer, John Ealing

J Neurol· December 2024

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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno

J Med Genet· August 2023

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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 Motta, Neringa Jurkute, Jamie M Ellingford, Eva Lenassi

Hum Mol Genet· January 2023

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Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C Ramsden, Stuart Ingram

Genet Med· October 2021

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Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Alexander Tanner, Hwei Wuen Chan, Jose S Pulido, Gavin Arno, Rola Ba-Abbad, Eva Lenassi

Ophthalmology· June 2021

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North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.
David J Green, Eva Lenassi, Cerys S Manning, David McGaughey, Vinod Sharma

Invest Ophthalmol Vis Sci· June 2021

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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Omamah A Jiman, Rachel L Taylor, Eva Lenassi, Jill Clayton Smith, Sofia Douzgou

Eur J Hum Genet· May 2020

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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C Ramsden, Stuart Ingram

Genet Med· April 2020

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Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Leslie P Molina-Ramírez, Eva Lenassi, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden

Otol Neurotol· April 2020

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I Sergouniotis, Eva Lenassi

Genes (Basel)· April 2020

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Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis.
Eva Lenassi, Maja Kojovic, Polona Jaki Mekjavić, Sasa Sega, Natasa Vidovič Valentinčič

J Neuroophthalmol· September 2017

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Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.
Eva Lenassi, Grace Vassallo, Elias Kehdi, Alice S Chieng, Jane L Ashworth

J AAPOS· June 2017

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Atypical presentation of CRB1 retinopathy.
Jiten Morarji, Eva Lenassi, Graeme C M Black, Jane L Ashworth

Acta Ophthalmol· September 2016

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Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures.
Polona Jaki Mekjavic, Eva Lenassi, Ola Eiken, Igor B Mekjavic

J Appl Physiol (1985)· May 2016

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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey

Eur J Hum Genet· October 2015

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Clinical heterogeneity in a family with mutations in USH2A.
Eva Lenassi, Anthony G Robson, Linda M Luxon, Maria Bitner-Glindzicz, Andrew R Webster

JAMA Ophthalmol· March 2015

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The effect of the common c.2299delG mutation in USH2A on RNA splicing.
Eva Lenassi, Zubin Saihan, Maria Bitner-Glindzicz, Andrew R Webster

Exp Eye Res· May 2014

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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi

Am J Hum Genet· May 2014

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Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Eva Lenassi, Zubin Saihan, Valentina Cipriani, Polona Le Quesne Stabej, Anthony T Moore

Ophthalmology· February 2014

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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.
Jaimie Hoh Kam, Eva Lenassi, Talat H Malik, Matthew C Pickering, Glen Jeffery

Am J Pathol· August 2013

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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.
Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda M Luxon, Mireille Claustres

Orphanet J Rare Dis· August 2013

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Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1).
Eva Lenassi, Eric Troeger, Robert Wilke, Adnan Tufail, Marko Hawlina

Am J Ophthalmol· January 2013

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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.
Anthony G Robson, Eva Lenassi, Zubin Saihan, Vy A Luong, Fred W Fitzke

Invest Ophthalmol Vis Sci· September 2012

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Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Panagiotis I Sergouniotis, Alice E Davidson, Eva Lenassi, Sophie R Devery, Anthony T Moore

Ophthalmology· March 2012

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Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Panagiotis I Sergouniotis, Alice E Davidson, Donna S Mackay, Eva Lenassi, Zheng Li

Am J Hum Genet· December 2011

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