| Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis PW Chiang, J Wang, Y Chen, Q Fu, J Zhong, Y Chen, X Yi, R Wu, H Gan, ... Nature Genetics 44 (9), 972-974, 2012 | 162 | 2012 |
| Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12. 2-12.3 JB Kerrison, VJ Arnould, JMF Sallum, MR Vagefi, MM Barmada, Y Li, ... Archives of ophthalmology 117 (6), 805-810, 1999 | 132 | 1999 |
| Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial RK Koenekoop, R Sui, J Sallum, LI van den Born, R Ajlan, A Khan, ... The Lancet 384 (9953), 1513-1520, 2014 | 111 | 2014 |
| 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 | 107 | 2020 |
| The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene DC Chung, M Bertelsen, B Lorenz, ME Pennesi, BP Leroy, CP Hamel, ... American journal of ophthalmology 199, 58-70, 2019 | 100 | 2019 |
| Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide VS Saraiva, JMF Sallum, ME Farah Ophthalmic Surgery, Lasers and Imaging Retina 34 (5), 398-400, 2003 | 98 | 2003 |
| Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, ... Nature communications 6 (1), 5614, 2015 | 90 | 2015 |
| Hyperautofluorescent ring in autoimmune retinopathy LH Lima, JP Greenberg, VC Greenstein, RT Smith, JMF Sallum, C Thirkill, ... Retina 32 (7), 1385-1394, 2012 | 69 | 2012 |
| Macular pigment optical density measured by dual-wavelength autofluorescence imaging in diabetic and nondiabetic patients: a comparative study VC Lima, RB Rosen, M Maia, TS Prata, S Dorairaj, ME Farah, J Sallum Investigative ophthalmology & visual science 51 (11), 5840-5845, 2010 | 61 | 2010 |
| Relative frequency of inherited retinal dystrophies in Brazil FL Motta, RP Martin, R Filippelli-Silva, MV Salles, JMF Sallum Scientific reports 8 (1), 15939, 2018 | 59 | 2018 |
| Autoimmune retinopathy: A Review AM Canamary, WY Takahashi, JMF Sallum International Journal of Retina and Vitreous 4 (1), 1, 2018 | 52 | 2018 |
| Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation TL Oliveira, RE Andrade, C Muccioli, J Sallum, R Belfort Jr American journal of ophthalmology 140 (1), 147-149, 2005 | 50 | 2005 |
| Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients LH Lima, JMF Sallum, RF Spaide Retina 33 (9), 1877-1880, 2013 | 40 | 2013 |
| Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham … JS Heier, EM Lad, FG Holz, PJ Rosenfeld, RH Guymer, D Boyer, F Grossi, ... The Lancet 402 (10411), 1434-1448, 2023 | 37 | 2023 |
| 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 138 (10), 1035-1042, 2020 | 34 | 2020 |
| Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain … ZT Soens, J Branch, S Wu, Z Yuan, Y Li, H Li, K Wang, M Xu, L Rajan, ... Human mutation 38 (11), 1521-1533, 2017 | 31 | 2017 |
| Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population TH Wakamatsu, M Ueta, K Tokunaga, Y Okada, RR Loureiro, KA Costa, ... Jama ophthalmology 135 (4), 355-360, 2017 | 30 | 2017 |
| Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS FM Rezende Filho, MH Parkinson, JL Pedroso, R Poh, I Faber, ... Parkinsonism & related disorders 62, 148-155, 2019 | 29 | 2019 |
| Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS FM Rezende Filho, MH Parkinson, JL Pedroso, R Poh, I Faber, ... Parkinsonism & related disorders 62, 148-155, 2019 | 29 | 2019 |
| Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil MB de Melo, AK Mandal, IM Tavares, MH Ali, M Kabra, ... PLoS One 10 (5), e0127147, 2015 | 28 | 2015 |
