Eva Lenassi

St Mary's Hospital
Manchester, ENG M139WL, United Kingdom

Last Updated: 09/26/2026

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Found 31 publications

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.

A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course.

Journal: Journal of neurology
Published: August 22, 2024

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Journal: Human molecular genetics
Published: June 20, 2022

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Journal: Journal of medical genetics
Published: May 07, 2022

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.

Journal: Investigative ophthalmology & visual science
Published: June 14, 2021

Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2020

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.

Journal: Ophthalmology
Published: September 30, 2020

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: March 17, 2020

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Journal: Genes
Published: March 11, 2020

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 23, 2019

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Journal: European journal of human genetics : EJHG
Published: May 30, 2019

Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis.

Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: August 16, 2017

Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.

Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: May 11, 2016
Showing 1-12 of 31

Last Updated: 09/26/2026