PubRank

Isabelle Audo

Author PubWeight™ 27.26‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Seven new loci associated with age-related macular degeneration. Nat Genet 2013 3.81
2 NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet 2012 1.86
3 Poppers-associated retinal toxicity. N Engl J Med 2010 1.54
4 CRB1 mutations in inherited retinal dystrophies. Hum Mutat 2011 1.34
5 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat 2010 1.26
6 Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci 2005 1.25
7 Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.18
8 Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci 2009 1.10
9 A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet 2010 1.05
10 Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci 2011 1.01
11 Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy. Invest Ophthalmol Vis Sci 2011 1.00
12 Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet 2013 0.96
13 Partial characterization of retina-derived cone neuroprotection in two culture models of photoreceptor degeneration. Invest Ophthalmol Vis Sci 2003 0.95
14 Functional and high resolution retinal imaging assessment in a case of ocular siderosis. Doc Ophthalmol 2013 0.94
15 Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein. Int J Mol Sci 2013 0.94
16 Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol 2013 0.86
17 Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. Cell Reprogram 2013 0.86
18 Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet 2013 0.84
19 Vitamin D analogs, a new treatment for retinoblastoma: The first Ellsworth Lecture. Ophthalmic Genet 2002 0.83
20 Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. Invest Ophthalmol Vis Sci 2013 0.81
21 Retinal toxicity after intracameral use of a standard dose of cefuroxime during cataract surgery. Doc Ophthalmol 2014 0.79
22 De novo splice mutation in the versican gene in a family with Wagner syndrome. JAMA Ophthalmol 2013 0.78
23 Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa. Ophthalmic Res 2015 0.77
24 Toxicity and dose-response studies of 1 alpha-hydroxyvitamin D2 in LH beta-Tag transgenic mice. Trans Am Ophthalmol Soc 2002 0.77
25 Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features. Doc Ophthalmol 2015 0.76
26 Current challenges of ophthalmology in France. Arch Ophthalmol 2010 0.75
27 Retinitis Pigmentosa and Other Dystrophies. Dev Ophthalmol 2017 0.75