PubRank

Frans C C Riemslag

Author PubWeight™ 14.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet 2010 1.94
2 Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet 2009 1.92
3 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology 2013 1.87
4 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet 2012 1.36
5 A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 2008 1.14
6 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology 2013 0.86
7 A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology 2012 0.86
8 An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. Doc Ophthalmol 2011 0.82
9 An extended 15 Hz ERG protocol (1): the contributions of primary and secondary rod pathways and the cone pathway. Doc Ophthalmol 2011 0.82
10 Assessment of night vision problems in patients with congenital stationary night blindness. PLoS One 2013 0.80
11 Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. Acta Ophthalmol 2014 0.78
12 Visually impaired children: "coming to better terms". Doc Ophthalmol 2009 0.77
13 Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. Invest Ophthalmol Vis Sci 2013 0.75