Published in PLoS One on December 13, 2010
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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature (2004) 5.95
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32
Identification of the gene for vitamin K epoxide reductase. Nature (2004) 4.52
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New sequence variants associated with bone mineral density. Nat Genet (2008) 3.43
Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. Blood (2010) 2.93
Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med (2009) 2.80
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Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am J Hum Genet (2010) 2.57
Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA (2008) 2.52
Prevalence and trends in low femur bone density among older US adults: NHANES 2005-2006 compared with NHANES III. J Bone Miner Res (2010) 2.40
Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet (2007) 2.32
Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA (2004) 2.20
Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement. Blood (2008) 2.18
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet (2009) 2.14
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Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. J Bone Miner Res (2007) 1.82
Gender specificity in the genetic determinants of peak bone mass. J Bone Miner Res (2001) 1.80
Heritable and life-style determinants of bone mineral density. J Bone Miner Res (1993) 1.78
Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med (2006) 1.68
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans. Pharmacogenomics (2008) 1.65
Site and gender specificity of inheritance of bone mineral density. J Bone Miner Res (2003) 1.30
Assessment of sex-specific genetic and environmental effects on bone mineral density. Genet Epidemiol (2004) 1.18
Genetic and environmental determinants of volumetric and areal BMD in multi-generational families of African ancestry: the Tobago Family Health Study. J Bone Miner Res (2007) 1.13
Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing. Pharmacogenomics (2007) 1.12
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Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann Hum Genet (2006) 1.09
Heritability of BMD of femoral neck and lumbar spine: a multivariate twin study of Finnish men. J Bone Miner Res (2007) 1.01
Race and sex differences in bone mineral density and geometry at the femur. Bone (2009) 1.00
Bone health and osteoporosis: the role of vitamin K and potential antagonism by anticoagulants. Nutr Clin Pract (2007) 0.97
High-dose vitamin K supplementation reduces fracture incidence in postmenopausal women: a review of the literature. Nutr Res (2009) 0.95
Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status. J Nutr Sci Vitaminol (Tokyo) (2009) 0.95
IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. J Bone Miner Res (2010) 0.92
Prevalence, family history, and prevention of reported osteoporosis in U.S. women. Am J Prev Med (2008) 0.88
Vitamin K deficiency from long-term warfarin anticoagulation does not alter skeletal status in male rhesus monkeys. J Bone Miner Res (2007) 0.84
The association between dietary vitamin K intake and serum undercarboxylated osteocalcin is modulated by vitamin K epoxide reductase genotype. Br J Nutr (2008) 0.82
Vitamin K deficiency and osteopenia in disuse-affected limbs of vitamin D-deficient elderly stroke patients. Am J Phys Med Rehabil (1999) 0.78
Long-term oral anticoagulation reduces bone mass in patients with previous hemispheric infarction and nonrheumatic atrial fibrillation. Stroke (1997) 0.78
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30
Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet (2008) 3.61
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Estimating coverage and power for genetic association studies using near-complete variation data. Nat Genet (2008) 2.80
Using synthetic templates to design an unbiased multiplex PCR assay. Nat Commun (2013) 2.72
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature (2013) 2.46
Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS One (2010) 2.43
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
Detection of structural variants and indels within exome data. Nat Methods (2011) 2.27
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. PLoS Genet (2011) 2.13
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med (2010) 2.09
Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey. Circulation (2006) 2.00
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res (2011) 1.93
CYP4F2 is a vitamin K1 oxidase: An explanation for altered warfarin dose in carriers of the V433M variant. Mol Pharmacol (2009) 1.92
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet (2008) 1.89
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet (2012) 1.78
An analysis of the relative effects of VKORC1 and CYP2C9 variants on anticoagulation related outcomes in warfarin-treated patients. Thromb Haemost (2008) 1.76
Association of Vitamin K epoxide reductase complex 1 (VKORC1) variants with warfarin dose in a Hong Kong Chinese patient population. Pharmacogenet Genomics (2005) 1.72
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PLoS Genet (2013) 1.70
Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation (2008) 1.68
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans. Pharmacogenomics (2008) 1.65
High-throughput genotyping of intermediate-size structural variation. Hum Mol Genet (2006) 1.61
Functional polymorphism in human CYP4F2 decreases 20-HETE production. Physiol Genomics (2007) 1.47
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet (2013) 1.40
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. J Lipid Res (2009) 1.34
Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arterioscler Thromb Vasc Biol (2008) 1.32
Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. PLoS Genet (2006) 1.27
Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. Circ Cardiovasc Genet (2011) 1.26
Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arterioscler Thromb Vasc Biol (2010) 1.19
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A (2010) 1.19
CYP2C9 haplotype structure in European American warfarin patients and association with clinical outcomes. Clin Pharmacol Ther (2005) 1.17
Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status. Pharmacogenetics (2003) 1.14
Direct detection of null alleles in SNP genotyping data. Hum Mol Genet (2006) 1.12
Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing. Pharmacogenomics (2007) 1.12
Targeted enrichment of specific regions in the human genome by array hybridization. Curr Protoc Hum Genet (2010) 1.11
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology (2013) 1.06
Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study. Arterioscler Thromb Vasc Biol (2008) 1.05
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A (2012) 1.02
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Hum Mol Genet (2013) 1.00
A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. J Lipid Res (2007) 0.99
Characterization of mitochondrial haplogroups in a large population-based sample from the United States. Hum Genet (2014) 0.96
New genetic variant that might improve warfarin dose prediction in African Americans. Br J Clin Pharmacol (2010) 0.96
TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects. Hum Genet (2006) 0.95
In-vitro and in-vivo effects of the CYP2C9*11 polymorphism on warfarin metabolism and dose. Pharmacogenet Genomics (2005) 0.95
Integrating host genomics with surveillance for invasive bacterial diseases. Emerg Infect Dis (2008) 0.95
Human liver expression of CYP2C8: gender, age, and genotype effects. Drug Metab Dispos (2010) 0.95
Enabling high-throughput genotype-phenotype associations in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project as part of the Population Architecture using Genomics and Epidemiology (PAGE) study. Pac Symp Biocomput (2013) 0.93
SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study. Circ Cardiovasc Genet (2011) 0.93
Evidence for age as a modifier of genetic associations for lipid levels. Ann Hum Genet (2011) 0.92
IGF1R variants associated with isolated single suture craniosynostosis. Am J Med Genet A (2011) 0.92
Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res (2011) 0.91
Population differences in genetic risk for age-related macular degeneration and implications for genetic testing. Arch Ophthalmol (2012) 0.90
Ligand directed signaling differences between rodent and human κ-opioid receptors. J Biol Chem (2012) 0.88
Renin-angiotensin system haplotypes and the risk of myocardial infarction and stroke in pharmacologically treated hypertensive patients. Am J Epidemiol (2007) 0.86
Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes. Pharmacogenet Genomics (2013) 0.86
Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey. PLoS One (2011) 0.86
Allelic spectrum of the natural variation in CRP. Hum Genet (2006) 0.86
CRP polymorphisms and progression of chronic kidney disease in African Americans. Clin J Am Soc Nephrol (2009) 0.86
Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study. BMC Genet (2013) 0.86
LPA and PLG sequence variation and kringle IV-2 copy number in two populations. Hum Hered (2008) 0.85
Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants. Alzheimer Dis Assoc Disord (2002) 0.84
A case study of acenocoumarol sensitivity and genotype-phenotype discordancy explained by combinations of polymorphisms in VKORC1 and CYP2C9. Br J Clin Pharmacol (2006) 0.83
Novel CYP2C9 promoter variants and assessment of their impact on gene expression. Mol Pharmacol (2008) 0.83
Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey. Thromb Haemost (2012) 0.83
Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol (2010) 0.82
Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet (2011) 0.80
Post-genome-wide association study challenges for lipid traits: describing age as a modifier of gene-lipid associations in the Population Architecture using Genomics and Epidemiology (PAGE) study. Ann Hum Genet (2013) 0.80
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III). BMC Med Genet (2013) 0.79
Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project. Pac Symp Biocomput (2013) 0.79
Genetic determinants of the ankle-brachial index: a meta-analysis of a cardiovascular candidate gene 50K SNP panel in the candidate gene association resource (CARe) consortium. Atherosclerosis (2012) 0.79
Identification of gene-gene and gene-environment interactions within the fibrinogen gene cluster for fibrinogen levels in three ethnically diverse populations. Pac Symp Biocomput (2015) 0.79
No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population. Hum Genet (2013) 0.78
Measures of exposure impact genetic association studies: an example in vitamin K levels and VKORC1. Pac Symp Biocomput (2015) 0.78
Sequence-based linkage analysis. Am J Hum Genet (2004) 0.78