Published in Am J Ophthalmol on September 01, 2004
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet (2009) 4.22
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet (2004) 2.58
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet (2005) 2.04
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet (2002) 1.62
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet (2006) 1.58
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet (2012) 1.38
X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics (2002) 1.34
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet (2004) 1.27
C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One (2008) 1.22
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol (2011) 1.19
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat (2011) 1.17
A tale of two genotypes: consistency between two high-throughput genotyping centers. Genome Res (2002) 1.14
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). Mol Vis (2006) 1.13
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol (2012) 1.12
Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol (2007) 1.12
Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib. Retina (2011) 1.11
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis (2007) 1.10
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. Am J Ophthalmol (2005) 1.01
Trait anxiety in pregnant women predicts offspring birth outcomes. Paediatr Perinat Epidemiol (2009) 0.94
Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea (2009) 0.93
Intrinsically photosensitive retinal ganglion cells are the primary but not exclusive circuit for light aversion. Exp Eye Res (2012) 0.93
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet (2012) 0.93
Apolipoprotein e gene and age-related maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol (2007) 0.93
Fluorescein-potentiated argon laser therapy improves symptoms and appearance of corneal neovascularization. Cornea (2002) 0.92
A reliable behavioral assay for the assessment of sustained photophobia in mice. Curr Eye Res (2008) 0.91
Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. Genome Res (2003) 0.86
Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 0.85
High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy. Mol Vis (2007) 0.85
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol (2006) 0.84
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol (2004) 0.81
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. Graefes Arch Clin Exp Ophthalmol (2010) 0.81
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. Mol Vis (2013) 0.80
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci (2010) 0.79
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet (2014) 0.78
Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. Invest Ophthalmol Vis Sci (2011) 0.77
Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes. Ophthalmic Res (2010) 0.77
Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy. Invest Ophthalmol Vis Sci (2013) 0.77
Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease. Curr Eye Res (2010) 0.77
Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4. DNA Seq (2003) 0.76
Letter from the DSMC regarding a clinical trial of lutein in patients with retinitis pigmentosa. Arch Ophthalmol (2011) 0.76
A new vision for age-related macular degeneration. Eur J Hum Genet (2005) 0.75
The coming of age for age-related macular degeneration genetics. Ophthalmic Genet (2005) 0.75
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Invest Ophthalmol Vis Sci (2007) 0.75
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. Retin Cases Brief Rep (2014) 0.75
Unanswered questions in headache: so what is photophobia, anyway? Headache (2013) 0.75
Gender specific issues in hereditary ocular disorders. Curr Eye Res (2014) 0.75
The genetics of age-related macular degeneration. Medsurg Nurs (2003) 0.75