Published in Mol Vis on April 27, 2011
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci (2013) 1.10
A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response. Trends Mol Med (2013) 0.96
The primary open-angle african american glaucoma genetics study: baseline demographics. Ophthalmology (2015) 0.96
Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2013) 0.93
Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis. Mol Vis (2011) 0.88
The genetics of POAG in black South Africans: a candidate gene association study. Sci Rep (2015) 0.88
Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis. PLoS One (2012) 0.82
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. Mol Vis (2012) 0.82
Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population. Mol Vis (2012) 0.80
Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis. Int J Clin Exp Med (2015) 0.77
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Number of people with glaucoma worldwide. Br J Ophthalmol (1996) 14.31
The genetic structure and history of Africans and African Americans. Science (2009) 10.65
Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA (1991) 9.42
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science (2002) 6.53
Primary open-angle glaucoma. N Engl J Med (2009) 4.89
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet (1997) 3.83
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet (2005) 3.56
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet (1993) 3.12
The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. Am J Hum Genet (2000) 2.91
The genetics of primary open-angle glaucoma: a review. Exp Eye Res (2008) 2.14
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet (1997) 2.08
Glaucoma in Zulus: a population-based cross-sectional survey in a rural district in South Africa. Arch Ophthalmol (2002) 1.89
Temba glaucoma study: a population-based cross-sectional survey in urban South Africa. Ophthalmology (2003) 1.85
Primary open-angle glaucoma in blacks: a review. Surv Ophthalmol (2003) 1.70
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67
Genetic dissection of myocilin glaucoma. Hum Mol Genet (2004) 1.60
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44
Myocilin allele-specific glaucoma phenotype database. Hum Mutat (2008) 1.35
Founder TIGR/myocilin mutations for glaucoma in the Québec population. Hum Mol Genet (2002) 1.33
GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis (1998) 1.32
A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet (1999) 1.28
Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci (1998) 1.12
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte. Invest Ophthalmol Vis Sci (2009) 1.08
Coiled-coil targeting of myocilin to intracellular membranes. Exp Eye Res (2006) 1.04
Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma (2002) 0.97
Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. Clin Genet (2004) 0.94
Regulation of myocilin-associated exosome release from human trabecular meshwork cells. Invest Ophthalmol Vis Sci (2008) 0.93
Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet (2010) 0.85
Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 5.09
Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med (2002) 5.07
Cerebrospinal fluid pressure is decreased in primary open-angle glaucoma. Ophthalmology (2008) 4.09
PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. Sci Transl Med (2010) 3.48
The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited. Prog Retin Eye Res (2009) 3.40
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A (2007) 3.03
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. Lancet Neurol (2006) 2.77
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet (2003) 2.71
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
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Early rapid rise in intraocular pressure after intravitreal triamcinolone acetonide injection. Am J Ophthalmol (2004) 2.46
Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease. Hepatology (2013) 2.42
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet (2007) 2.32
Implantation of a miniature glaucoma device under a scleral flap. J Glaucoma (2005) 2.24
A new class of homoserine lactone quorum-sensing signals. Nature (2008) 2.20
SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics (2005) 2.14
The genetics of primary open-angle glaucoma: a review. Exp Eye Res (2008) 2.14
Development of the WHOQOL-old module. Qual Life Res (2005) 2.05
High failure rate associated with 180 degrees selective laser trabeculoplasty. J Glaucoma (2005) 2.03
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
Biochemistry, evolution and physiological function of the Rnf complex, a novel ion-motive electron transport complex in prokaryotes. Cell Mol Life Sci (2010) 1.99
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet (2003) 1.98
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis (2008) 1.87
Reproductive factors and familial predisposition for breast cancer by age 50 years. A case-control-family study for assessing main effects and possible gene-environment interaction. Int J Epidemiol (2003) 1.87
Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered (2005) 1.86
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet (2007) 1.83
Relationship between methylome and transcriptome in patients with nonalcoholic fatty liver disease. Gastroenterology (2013) 1.75
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. Am J Ophthalmol (2005) 1.73
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. Am J Hum Genet (2004) 1.71
Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet (2004) 1.70
Extension of the SIMLA package for generating pedigrees with complex inheritance patterns: environmental covariates, gene-gene and gene-environment interaction. Stat Appl Genet Mol Biol (2005) 1.69
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet (2007) 1.67
Larger genetic differences within africans than between Africans and Eurasians. Genetics (2002) 1.62
Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci (2006) 1.60
TNXB mutations can cause vesicoureteral reflux. J Am Soc Nephrol (2013) 1.59
An ancient pathway combining carbon dioxide fixation with the generation and utilization of a sodium ion gradient for ATP synthesis. PLoS One (2012) 1.57
Health literacy and adherence to glaucoma therapy. Am J Ophthalmol (2006) 1.57
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2006) 1.51
Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci (2008) 1.51
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
Clinical comparison of the Proview eye pressure monitor with the Goldmann applanation tonometer and the Tonopen. Arch Ophthalmol (2004) 1.48
Molecular genetics in glaucoma. Exp Eye Res (2011) 1.47
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis (2010) 1.45
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Invest Ophthalmol Vis Sci (2006) 1.41
Intracranial pressure in primary open angle glaucoma, normal tension glaucoma, and ocular hypertension: a case-control study. Invest Ophthalmol Vis Sci (2008) 1.40
Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. J Genet Couns (2003) 1.37
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis (2004) 1.35
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun (2013) 1.35
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. Am J Hum Genet (2005) 1.31
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS One (2011) 1.30
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. Hum Mol Genet (2004) 1.29
Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study. Am Heart J (2003) 1.28
Adult attachment and social support interact to reduce psychological but not cortisol responses to stress. J Psychosom Res (2008) 1.28
Survey of glaucoma in an eye clinic in Ghana, West Africa. J Glaucoma (2002) 1.26
Field testing of a European quality of life instrument for children and adolescents with chronic conditions: the 37-item DISABKIDS Chronic Generic Module. Qual Life Res (2007) 1.25
Formulation of Docetaxel by folic acid-conjugated d-α-tocopheryl polyethylene glycol succinate 2000 (Vitamin E TPGS(2k)) micelles for targeted and synergistic chemotherapy. Biomaterials (2011) 1.25
Assessing quality of life of children with chronic health conditions and disabilities: a European approach. Int J Rehabil Res (2002) 1.24
Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS One (2008) 1.23
Development and pilot-testing of a health-related quality of life chronic generic module for children and adolescents with chronic health conditions: a European perspective. Qual Life Res (2005) 1.23
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol (2003) 1.15
Pesticide exposure and amyotrophic lateral sclerosis. Neurotoxicology (2012) 1.15
Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci (2005) 1.14
Genetic, immunological and biochemical evidence for a Rnf complex in the acetogen Acetobacterium woodii. Environ Microbiol (2009) 1.13
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci (2004) 1.12
Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra. Mov Disord (2005) 1.11
Body mass index has a linear relationship with cerebrospinal fluid pressure. Invest Ophthalmol Vis Sci (2012) 1.11
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci (2013) 1.10
Analysis of LOXL1 polymorphisms in a Saudi Arabian population with pseudoexfoliation glaucoma. Mol Vis (2010) 1.09