PubRank

Thaddeus P Dryja

Author PubWeight™ 67.72‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Retinitis pigmentosa. Lancet 2006 13.62
2 Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002 2.84
3 Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet 2008 2.58
4 Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 2004 2.48
5 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet 2003 1.83
6 Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 2003 1.74
7 Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 2006 1.71
8 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat 2005 1.52
9 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res 2004 1.51
10 Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med 2006 1.51
11 Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci 2002 1.49
12 Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Proc Natl Acad Sci U S A 2001 1.49
13 Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A 2004 1.42
14 Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci 2007 1.41
15 Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol 2007 1.37
16 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet 2010 1.35
17 Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. J Biol Chem 2002 1.34
18 Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 2007 1.30
19 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2008 1.27
20 A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci 2004 1.19
21 Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci 2005 1.13
22 Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma. Arch Ophthalmol 2003 1.10
23 Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am 2002 1.09
24 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci 2008 1.08
25 High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome. Arch Ophthalmol 2002 0.97
26 Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Arch Ophthalmol 2004 0.96
27 Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch Ophthalmol 2002 0.96
28 Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest Ophthalmol Vis Sci 2002 0.95
29 Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol 2002 0.94
30 Solitary myofibroma of the sclera. Cornea 2007 0.92
31 Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet 2007 0.92
32 Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol 2007 0.89
33 Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol 2004 0.87
34 Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol 2002 0.87
35 Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management. Ophthal Plast Reconstr Surg 2004 0.86
36 Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Ophthalmic Genet 2005 0.85
37 Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Mol Vis 2008 0.85
38 Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. Doc Ophthalmol 2008 0.83
39 Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. Mol Vis 2009 0.83
40 Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases. Ophthalmic Genet 2005 0.81
41 Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol 2002 0.80
42 Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Mol Vis 2007 0.80
43 Melanocytoma of the optic nerve associated with sound-induced phosphenes. Arch Ophthalmol 2006 0.80
44 A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. Mol Vis 2006 0.79
45 Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1β by Canakinumab or IL-17A by Secukinumab. Cornea 2015 0.78
46 A "negative" temporal artery biopsy, positive for arteritis. Arch Ophthalmol 2004 0.78
47 Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. Mol Vis 2004 0.78
48 Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Mol Vis 2006 0.75
49 Response of choroidal leiomyoma to treatment with proton beam radiation. Retin Cases Brief Rep 2010 0.75