Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up-Regulation of Macrophages

por Hoh Kam, Jaimie, Lenassi, Eva, Jeffery, Glen
Publicado 2010

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

por Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Publicado 2021

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

por Steele-Stallard, Heather B, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda M, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew R, Bitner-Glindzicz, Maria
Publicado 2013

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

por Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Publicado 2015

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

por Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian
Publicado 2020

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

por Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.
Publicado 2019

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

por Tanner, Alexander, Chan, Hwei Wuen, Pulido, Jose S., Arno, Gavin, Ba-Abbad, Rola, Jurkute, Neringa, Robson, Anthony G., Egan, Catherine A., Knight, Hannah, Calcagni, Antonio, Taylor, Rachel L., Lenassi, Eva, Black, Graeme C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Publicado 2021

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

por Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M
Publicado 2023

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

por Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.
Publicado 2019

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

por Daich Varela, Malena, Bellingham, James, Motta, Fabiana, Jurkute, Neringa, Ellingford, Jamie M, Quinodoz, Mathieu, Oprych, Kathryn, Niblock, Michael, Janeschitz-Kriegl, Lucas, Kaminska, Karolina, Cancellieri, Francesca, Scholl, Hendrik P N, Lenassi, Eva, Schiff, Elena, Knight, Hannah, Black, Graeme, Rivolta, Carlo, Cheetham, Michael E, Michaelides, Michel, Mahroo, Omar A, Moore, Anthony T, Webster, Andrew R, Arno, Gavin
Publicado 2022