| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 133 | 2020 |
| Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa G Rebello, R Ramesar, A Vorster, L Roberts, L Ehrenreich, E Oppon, ... Proceedings of the National Academy of Sciences of the United States of …, 2004 | 128 | 2004 |
| Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ... The American Journal of Human Genetics 107 (5), 802-814, 2020 | 102 | 2020 |
| Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations DS Mackay, AD Borman, R Sui, LI Born, EL Berson, LA Ocaka, ... Human mutation 34 (11), 1537-1546, 2013 | 48 | 2013 |
| Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma LHM Pierrache, A Kimchi, R Ratnapriya, L Roberts, GDN Astuti, ... Ophthalmology 124 (7), 992-1003, 2017 | 41 | 2017 |
| Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease EH Runhart, M Khan, SS Cornelis, S Roosing, M Del Pozo-Valero, ... JAMA ophthalmology, 2020 | 38 | 2020 |
| Stargardt macular dystrophy: common ABCA4 mutations in South Africa—establishment of a rapid genetic test and relating risk to patients LJ Roberts, CA Nossek, LJ Greenberg, RS Ramesar Molecular vision 18, 280, 2012 | 36 | 2012 |
| Molecular diagnosis of inherited retinal diseases in indigenous African populations by whole-exome sequencing L Roberts, R Ratnapriya, M du Plessis, V Chaitankar, RS Ramesar, ... Investigative ophthalmology & visual science 57 (14), 6374-6381, 2016 | 27 | 2016 |
| A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing J Greenberg, L Roberts, R Ramesar Ophthalmic genetics 24 (4), 225-232, 2003 | 23 | 2003 |
| Stargardt disease: towards developing a model to predict phenotype L Heathfield, M Lacerda, C Nossek, L Roberts, RS Ramesar European Journal of Human Genetics 21 (10), 1173-1176, 2013 | 18 | 2013 |
| Direct-to-consumer genetic testing: To test or not to test, that is the question C Dandara, J Greenberg, L Lambie, Z Lombard, T Naicker, R Ramesar, ... SAMJ: South African Medical Journal 103 (8), 510-512, 2013 | 16* | 2013 |
| Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa. L Roberts, R Ramesar, J Greenberg Clinical genetics 58 (1), 77-78, 2000 | 16 | 2000 |
| Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases RJ Hitti‐Malin, CM Dhaenens, DM Panneman, Z Corradi, M Khan, ... Human Mutation 43 (12), 2234-2250, 2022 | 15 | 2022 |
| Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa L Roberts, L Bartmann, R Ramesar, J Greenberg Mol Vis 12, 177-83, 2006 | 14 | 2006 |
| Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? AA Vorster, MT Rebello, N Coutts, L Ehrenreich, AD Gama, LJ Roberts, ... Clinical genetics 65 (1), 7-10, 2004 | 14 | 2004 |
| De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline RR Jordi Maggi, Lisa Roberts,Samuel Koller, George Rebello, Wolfgang Berger Genes 11 (7), 2020 | 12 | 2020 |
| Inherited retinal disorders in South Africa and the clinical impact of evolving technologies L Roberts, R Goliath, G Rebello, S Bardien, AV September, L Bartmann, ... South African Medical Journal 106 (6), S33, 2016 | 12 | 2016 |
| A founder mutation in MYO7A underlies a significant proportion of Usher syndrome in indigenous South Africans: implications for the African diaspora. L Roberts, S George, J Greenberg, RS Ramesar Invest Ophthalmol Vis Sci 56, 6671–6678, 2015 | 12 | 2015 |
| A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. P Korir, L Roberts, R Ramesar, C Seioghe BMC Research Notes 7 (1), 401, 2014 | 11 | 2014 |
| Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip LJ Roberts, RS Ramesar, J Greenberg Archives of ophthalmology 127 (4), 549-554, 2009 | 11 | 2009 |
R RamesarProfessor of Human Genetics, University of Cape Town, South AfricaCorreu electrònic verificat a uct.ac.za