Eva Lenassi

Affiliations

Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.

Publications (7)

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

Genes

Avec: Valentina Cipriani , Nikolas Pontikos , Gavin Arno , Panagiotis I Sergouniotis , Eva Lenassi , Penpitcha Thawong , Daniel Danis , Michel Michaelides , Andrew R Webster , Anthony T Moore , Peter N Robinson , Julius O B Jacobsen , Damian Smedley

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

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Eva Lenassi , Jill Clayton-Smith , Sofia Douzgou , Simon C Ramsden , Stuart Ingram , Georgina Hall , Claire L Hardcastle , Tracy A Fletcher , Rachel L Taylor , Jamie M Ellingford , William D Newman , Cecilia Fenerty , Vinod Sharma , I Chris Lloyd , Susmito Biswas , Jane L Ashworth , Graeme C Black , Panagiotis I Sergouniotis

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

European journal of human genetics : EJHG

Avec: Omamah A Jiman , Rachel L Taylor , Eva Lenassi , Jill Clayton Smith , Sofia Douzgou , Jamie M Ellingford , Stephanie Barton , Claire Hardcastle , Tracy Fletcher , Christopher Campbell , Jane Ashworth , Susmito Biswas , Simon C Ramsden , Auteur inconnu , Forbes D Manson , Graeme C Black

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

Human molecular genetics

Avec: Malena Daich Varela , James Bellingham , Fabiana Motta , Neringa Jurkute , Jamie M Ellingford , Mathieu Quinodoz , Kathryn Oprych , Michael Niblock , Lucas Janeschitz-Kriegl , Karolina Kaminska , Francesca Cancellieri , Hendrik P N Scholl , Eva Lenassi , Elena Schiff , Hannah Knight , Graeme Black , Carlo Rivolta , Michael E Cheetham , Michel Michaelides , Omar A Mahroo , Anthony T Moore , Andrew R Webster , Gavin Arno

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

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Avec: Leslie P Molina-Ramírez , Eva Lenassi , Jamie M Ellingford , Panagiotis I Sergouniotis , Simon C Ramsden , Iain A Bruce , Graeme C M Black

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

Investigative ophthalmology & visual science

Avec: David J Green , Eva Lenassi , Cerys S Manning , David McGaughey , Vinod Sharma , Graeme C Black , Jamie M Ellingford , Panagiotis I Sergouniotis

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

Journal of medical genetics

Avec: Eva Lenassi , Ana Carvalho , Anja Thormann , Liam Abrahams , Gavin Arno , Tracy Fletcher , Claire Hardcastle , Javier Lopez , Sarah E Hunt , Patrick Short , Panagiotis I Sergouniotis , Michel Michaelides , Andrew Webster , Fiona Cunningham , Simon C Ramsden , Dalia Kasperaviciute , David R Fitzpatrick , Auteur inconnu , Graeme C Black , Jamie M Ellingford

Réseau de co-auteurs

Jamie M Ellingford 6 collaborations

Panagiotis I Sergouniotis 5 collaborations

Simon C Ramsden 4 collaborations

Graeme C Black 4 collaborations

Gavin Arno 3 collaborations

Michel Michaelides 3 collaborations

Andrew R Webster 2 collaborations

Anthony T Moore 2 collaborations

Sofia Douzgou 2 collaborations

Rachel L Taylor 2 collaborations

Vinod Sharma 2 collaborations

Susmito Biswas 2 collaborations

Claire Hardcastle 2 collaborations

Tracy Fletcher 2 collaborations

None None 2 collaborations

Valentina Cipriani 1 collaboration

Nikolas Pontikos 1 collaboration

Penpitcha Thawong 1 collaboration

Daniel Danis 1 collaboration

Peter N Robinson 1 collaboration

Julius O B Jacobsen 1 collaboration

Damian Smedley 1 collaboration

Jill Clayton-Smith 1 collaboration

Stuart Ingram 1 collaboration

Georgina Hall 1 collaboration

Claire L Hardcastle 1 collaboration

Tracy A Fletcher 1 collaboration

William D Newman 1 collaboration

Cecilia Fenerty 1 collaboration

I Chris Lloyd 1 collaboration

Jane L Ashworth 1 collaboration

Omamah A Jiman 1 collaboration

Jill Clayton Smith 1 collaboration

Stephanie Barton 1 collaboration

Christopher Campbell 1 collaboration

Jane Ashworth 1 collaboration

Forbes D Manson 1 collaboration

Malena Daich Varela 1 collaboration

James Bellingham 1 collaboration

Fabiana Motta 1 collaboration

Neringa Jurkute 1 collaboration

Mathieu Quinodoz 1 collaboration

Kathryn Oprych 1 collaboration

Michael Niblock 1 collaboration

Lucas Janeschitz-Kriegl 1 collaboration

Karolina Kaminska 1 collaboration

Francesca Cancellieri 1 collaboration

Hendrik P N Scholl 1 collaboration

Elena Schiff 1 collaboration

Hannah Knight 1 collaboration

Graeme Black 1 collaboration

Carlo Rivolta 1 collaboration

Michael E Cheetham 1 collaboration

Omar A Mahroo 1 collaboration

Leslie P Molina-Ramírez 1 collaboration

Iain A Bruce 1 collaboration

Graeme C M Black 1 collaboration

David J Green 1 collaboration

Cerys S Manning 1 collaboration

David McGaughey 1 collaboration

Ana Carvalho 1 collaboration

Anja Thormann 1 collaboration

Liam Abrahams 1 collaboration

Javier Lopez 1 collaboration

Sarah E Hunt 1 collaboration

Patrick Short 1 collaboration

Andrew Webster 1 collaboration

Fiona Cunningham 1 collaboration

Dalia Kasperaviciute 1 collaboration

David R Fitzpatrick 1 collaboration