Viewing ageing eyes: diverse sites of amyloid beta accumulation in the ageing mouse retina and the up-regulation of macrophages E Lenassi, JH Kam, G Jeffery PloS one 5 (10), e13127, 2010 | 164 | 2010 |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ... European Journal of Human Genetics 23 (10), 1318-1327, 2015 | 120 | 2015 |
Retinal structure, function, and molecular pathologic features in gyrate atrophy E Lenassi, PI Sergouniotis, AE Davidson, SR Devery, AT Moore, ... Ophthalmology, 2011 | 118* | 2011 |
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ... The American Journal of Human Genetics 94 (5), 760-769, 2014 | 89 | 2014 |
Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration JH Kam, E Lenassi, TH Malik, MC Pickering, G Jeffery The American journal of pathology 183 (2), 480-492, 2013 | 88 | 2013 |
VEP maturation and visual acuity in infants and preschool children E Lenassi, K Likar, B Stirn-Kranjc, J Brecelj Documenta Ophthalmologica 117, 111-120, 2008 | 69 | 2008 |
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger … HB Steele-Stallard, P Le Quesne Stabej, E Lenassi, LM Luxon, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 63 | 2013 |
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders E Lenassi, J Clayton-Smith, S Douzgou, SC Ramsden, S Ingram, G Hall, ... Genetics in Medicine 22 (4), 745-751, 2020 | 53 | 2020 |
Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring E Lenassi, E Troeger, R Wilke, M Hawlina Investigative Ophthalmology & Visual Science 53 (1), 47-52, 2012 | 47 | 2012 |
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina PI Sergouniotis, AE Davidson, DS Mackay, E Lenassi, Z Li, AG Robson, ... The American Journal of Human Genetics, 2011 | 47 | 2011 |
An improved phenotype-driven tool for rare mendelian variant prioritization: benchmarking exomiser on real patient whole-exome data V Cipriani, N Pontikos, G Arno, PI Sergouniotis, E Lenassi, P Thawong, ... Genes 11 (4), 460, 2020 | 46 | 2020 |
Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4-to 8-year follow-up AG Robson, E Lenassi, Z Saihan, VA Luong, FW Fitzke, GE Holder, ... Investigative ophthalmology & visual science 53 (10), 6187-6195, 2012 | 44 | 2012 |
The effect of the common c. 2299delG mutation in USH2A on RNA splicing E Lenassi, Z Saihan, M Bitner-Glindzicz, AR Webster Experimental eye research 122, 9-12, 2014 | 43 | 2014 |
Efficacy of 12‐month treatment of neovascular age‐related macular degeneration with intravitreal bevacizumab based on individually determined injection strategies after three … PJ Mekjavic, A Kraut, M Urbancic, E Lenassi, M Hawlina Acta ophthalmologica 89 (7), 647-653, 2011 | 39 | 2011 |
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation E Lenassi, Z Saihan, V Cipriani, PLQ Stabej, AT Moore, LM Luxon, ... Ophthalmology 121 (2), 580-587, 2014 | 30 | 2014 |
Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease E Lenassi, M Jarc-Vidmar, D Glavač, M Hawlina British journal of ophthalmology 93 (12), 1600-1605, 2009 | 28 | 2009 |
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease OA Jiman, RL Taylor, E Lenassi, JC Smith, S Douzgou, JM Ellingford, ... European Journal of Human Genetics 28 (5), 576-586, 2020 | 27 | 2020 |
The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice E Lenassi, AG Robson, M Hawlina, GE Holder Retina 32 (3), 588, 2012 | 27 | 2012 |
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies M Daich Varela, J Bellingham, F Motta, N Jurkute, JM Ellingford, ... Human molecular genetics 32 (4), 595-607, 2023 | 22 | 2023 |
Clinical heterogeneity in a family with mutations in USH2A E Lenassi, AG Robson, LM Luxon, M Bitner-Glindzicz, AR Webster JAMA ophthalmology 133 (3), 352-355, 2015 | 19 | 2015 |