PubRank

Tomas S Aleman

Author PubWeight™ 108.71‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008 8.83
2 Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A 2008 7.16
3 Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther 2005 4.74
4 Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A 2005 4.04
5 Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol 2011 3.79
6 Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther 2009 3.07
7 Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med 2009 2.57
8 In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther 2004 2.56
9 Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet 2004 2.30
10 Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A 2007 2.21
11 Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther 2006 2.13
12 Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci 2006 2.10
13 Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci 2008 2.06
14 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 2003 1.98
15 Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res 2005 1.94
16 In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa. Proc Natl Acad Sci U S A 2005 1.85
17 Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther 2006 1.81
18 Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med 2007 1.79
19 The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A 2002 1.73
20 Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci 2008 1.69
21 ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet 2008 1.69
22 Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 2002 1.67
23 Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat 2007 1.67
24 Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. J Opt Soc Am A Opt Image Sci Vis 2007 1.57
25 Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci 2008 1.54
26 In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet 2006 1.49
27 Normal central retinal function and structure preserved in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2009 1.49
28 Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat 2004 1.45
29 ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci 2005 1.40
30 Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 2006 1.39
31 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 2008 1.36
32 Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet 2004 1.36
33 RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci 2007 1.34
34 Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. Hum Gene Ther 2010 1.33
35 Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol Meas 2007 1.31
36 Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci 2008 1.31
37 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1.30
38 Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. Ophthalmology 2005 1.29
39 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet 2011 1.27
40 Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Mol Vis 2007 1.26
41 Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Invest Ophthalmol Vis Sci 2012 1.26
42 Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation. Br J Ophthalmol 2007 1.20
43 Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci 2011 1.19
44 Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate. Hum Mol Genet 2009 1.17
45 Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. Hum Gene Ther 2012 1.12
46 Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Med 2006 1.11
47 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci 2005 1.06
48 Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 2003 1.06
49 Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor. Diabetes 2005 1.04
50 In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res 2003 1.04
51 Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol 2011 1.04
52 Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 2007 1.00
53 The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Hum Mol Genet 2011 0.99
54 Macular pigment and lutein supplementation in choroideremia. Exp Eye Res 2002 0.98
55 Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations. Invest Ophthalmol Vis Sci 2010 0.95
56 Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Mol Vis 2009 0.94
57 De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2003 0.93
58 Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci 2009 0.93
59 Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina. Biomaterials 2009 0.91
60 Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci 2011 0.90
61 Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. PLoS One 2011 0.81
62 Obstructive sleep apnea and central serous chorioretinopathy. Retina 2015 0.75
63 Localized Bilateral Juxtafoveal Photoreceptor Loss in POEMS: A New Association. Retina 2017 0.75
64 Diagnostic and Therapeutic Challenges. Retina 2019 0.75
65 ACUTE EXUDATIVE PARANEOPLASTIC POLYMORPHOUS VITELLIFORM MACULOPATHY DURING VEMURAFENIB AND PEMBROLIZUMAB TREATMENT FOR METASTATIC MELANOMA. Retin Cases Brief Rep 2017 0.75
66 Diagnostic and Therapeutic Challenges. Retina 2016 0.75
67 Diagnostic and Therapeutic Challenges. Retina 2017 0.75