PubRank

Stephen P Daiger

Author PubWeight™ 48.55‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006 2.93
2 Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet 2002 2.26
3 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006 1.96
4 Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006 1.85
5 Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet 2009 1.73
6 A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 2011 1.66
7 Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci 2011 1.63
8 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet 2013 1.63
9 Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013 1.60
10 Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci 2002 1.58
11 Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2009 1.52
12 Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A 2002 1.51
13 A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet 2010 1.46
14 The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis 2007 1.41
15 Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest Ophthalmol Vis Sci 2006 1.41
16 Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet 2008 1.24
17 Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS One 2011 1.16
18 Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. Mol Vis 2008 1.15
19 The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum Mol Genet 2002 1.12
20 Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Invest Ophthalmol Vis Sci 2006 1.04
21 Survival of Texas infants born with trisomies 21, 18, and 13. Am J Med Genet A 2010 1.04
22 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci 2011 1.01
23 Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013 1.00
24 Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci 2009 0.97
25 Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance. Eur J Hum Genet 2008 0.97
26 Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. Am J Ophthalmol 2005 0.95
27 IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. J Biol Chem 2008 0.95
28 Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis 2003 0.93
29 Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. Arch Ophthalmol 2011 0.92
30 Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. Mol Vis 2013 0.89
31 A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis 2007 0.87
32 Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. Mol Vis 2007 0.86
33 Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. Invest Ophthalmol Vis Sci 2003 0.85
34 Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins. Arch Biochem Biophys 2008 0.83
35 Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Adv Exp Med Biol 2012 0.80
36 Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. Curr Eye Res 2003 0.79
37 On the role of IMPDH1 in retinal degeneration. Adv Exp Med Biol 2003 0.78
38 Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Hum Mutat 2014 0.76
39 Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. Adv Exp Med Biol 2010 0.75
40 PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Ophthalmic Genet 2010 0.75
41 Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors. Adv Exp Med Biol 2003 0.75
42 Multimodal Imaging in Wagner Syndrome. Ophthalmic Surg Lasers Imaging Retina 2016 0.75
43 Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations. Invest Ophthalmol Vis Sci 2016 0.75