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 | 152 | 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 | 131 | 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 | 105 | 2014 |
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 |
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 | 88 | 2020 |
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 | 81 | 2015 |
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 | 79 | 2019 |
Hyperautofluorescent ring in autoimmune retinopathy LH Lima, JP Greenberg, VC Greenstein, RT Smith, JMF Sallum, C Thirkill, ... Retina 32 (7), 1385-1394, 2012 | 62 | 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 | 60 | 2010 |
Relative frequency of inherited retinal dystrophies in Brazil FL Motta, RP Martin, R Filippelli-Silva, MV Salles, JMF Sallum Scientific reports 8 (1), 1-9, 2018 | 47 | 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 | 46 | 2005 |
Autoimmune retinopathy: A Review AM Canamary, WY Takahashi, JMF Sallum International Journal of Retina and Vitreous 4 (1), 1, 2018 | 39 | 2018 |
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients LH Lima, JMF Sallum, RF Spaide Retina 33 (9), 1877-1880, 2013 | 37 | 2013 |
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 | 28 | 2017 |
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 | 27 | 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 | 26 | 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 | 26 | 2019 |
Vision-related quality of life in children with retinopathy of prematurity AA Messa, RB Mattos, KCN Areco, JMF Sallum Arquivos Brasileiros de Oftalmologia 78 (4), 224-228, 2015 | 26 | 2015 |
Vision-related quality of life in children with retinopathy of prematurity AA Messa, RB Mattos, KCN Areco, JMF Sallum Arquivos brasileiros de oftalmologia 78, 224-228, 2015 | 26 | 2015 |
Spectral-Domain Optical Coherence Tomography for Macular Edema E Badaró, E Novais, LM Prodocimo, JMF Sallum The Scientific World Journal 2014, 2014 | 26 | 2014 |