Published in Hum Mol Genet on September 10, 2009
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Hum Mol Genet (2010) 1.35
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr (2013) 1.08
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med Genet (2012) 1.08
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 1.04
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain (2014) 1.03
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Orphanet J Rare Dis (2012) 0.98
Associations between maternal genotypes and metabolites implicated in congenital heart defects. Mol Genet Metab (2012) 0.92
An integrated approach to defining genetic and environmental determinants for major clinical outcomes involving vitamin D. Mol Diagn Ther (2014) 0.91
Meta-analyses of blood homocysteine levels for gender and genetic association studies of the MTHFR C677T polymorphism in schizophrenia. Schizophr Bull (2014) 0.89
Common folate gene variant, MTHFR C677T, is associated with brain structure in two independent cohorts of people with mild cognitive impairment. Neuroimage Clin (2012) 0.88
A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease. Transfus Med Hemother (2014) 0.88
Plasma total homocysteine is associated with DNA methylation in patients with schizophrenia. Epigenetics (2013) 0.84
The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers? Int J Mol Epidemiol Genet (2011) 0.82
The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism. Biomed Res Int (2014) 0.81
Derivation and validation of homocysteine score in u.s. Men and women. J Nutr (2014) 0.79
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. Front Public Health (2014) 0.79
Transcriptomic profile reveals gender-specific molecular mechanisms driving multiple sclerosis progression. PLoS One (2014) 0.79
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: no consistent evidence for an association in the Nordic population. Am J Med Genet B Neuropsychiatr Genet (2012) 0.78
Polymorphisms in genes related to one-carbon metabolism are not related to pancreatic cancer in PanScan and PanC4. Cancer Causes Control (2013) 0.78
Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One (2015) 0.77
Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. Birth Defects Res A Clin Mol Teratol (2012) 0.77
High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism. Hum Mol Genet (2015) 0.77
Genetic determinants of serum vitamin B12 and their relation to body mass index. Eur J Epidemiol (2016) 0.76
Correlations of MTHFR 677C>T polymorphism with cardiovascular disease in patients with end-stage renal disease: a meta-analysis. PLoS One (2014) 0.76
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. Hum Mol Genet (2016) 0.76
Micronutrient deficiencies in patients with chronic atrophic autoimmune gastritis: A review. World J Gastroenterol (2017) 0.75
Homocysteine-reducing B vitamins and ischemic heart disease: a separate-sample Mendelian randomization analysis. Eur J Clin Nutr (2016) 0.75
Approaches for the identification of genetic modifiers of nutrient dependent phenotypes: examples from folate. Front Nutr (2014) 0.75
A genetic variant in vitamin B12 metabolic genes that reduces the risk of congenital heart disease in Han Chinese populations. PLoS One (2014) 0.75
The C677T variant in MTHFR modulates associations between brain integrity, mood, and cognitive functioning in old age. Biol Psychiatry Cogn Neurosci Neuroimaging (2017) 0.75
A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts. PLoS One (2017) 0.75
A Genetic Variant in FIGN Gene Reduces the Risk of Congenital Heart Disease in Han Chinese Populations. Pediatr Cardiol (2017) 0.75
Opportunism: a panacea for implementation of whole-genome sequencing studies in nutrigenomics research? Genes Nutr (2014) 0.75
Implications of DNA Methylation in Parkinson's Disease. Front Mol Neurosci (2017) 0.75
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. Am J Med Genet A (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
Quantifying heterogeneity in a meta-analysis. Stat Med (2002) 83.16
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27
Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet (2008) 13.26
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med (1991) 6.03
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet (2008) 5.89
MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA (2002) 5.29
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation (1996) 4.62
Folate, vitamin B12, and serum total homocysteine levels in confirmed Alzheimer disease. Arch Neurol (1998) 4.48
Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. N Engl J Med (1995) 4.36
A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians. JAMA (1992) 3.96
Methylation of tRNAAsp by the DNA methyltransferase homolog Dnmt2. Science (2006) 3.87
Determinants of plasma total homocysteine concentration in the Framingham Offspring cohort. Am J Clin Nutr (2001) 3.80
A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet (2009) 3.78
Homocysteine metabolism. Annu Rev Nutr (1999) 3.75
Multivitamin use, folate, and colon cancer in women in the Nurses' Health Study. Ann Intern Med (1998) 3.73
Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J Chromatogr (1987) 3.58
Folate, methionine, and alcohol intake and risk of colorectal adenoma. J Natl Cancer Inst (1993) 3.25
Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet Epidemiol (2007) 2.95
Plasma folate, vitamin B6, vitamin B12, homocysteine, and risk of breast cancer. J Natl Cancer Inst (2003) 2.92
Genome-wide association scans for secondary traits using case-control samples. Genet Epidemiol (2009) 2.55
Helicobacter pylori--is it a novel causative agent in Vitamin B12 deficiency? Arch Intern Med (2000) 2.55
Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet (1995) 2.36
Total plasma homocysteine and cardiovascular risk profile. The Hordaland Homocysteine Study. JAMA (1995) 2.31
The Hordaland Homocysteine Study: a community-based study of homocysteine, its determinants, and associations with disease. J Nutr (2006) 2.15
Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat Genet (2008) 2.07
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet (2009) 1.87
Folate and risk of breast cancer: a meta-analysis. J Natl Cancer Inst (2007) 1.80
Folate, vitamin B12 and vitamin B6 and one carbon metabolism. J Nutr Health Aging (2002) 1.76
Role of folate in colon cancer development and progression. J Nutr (2003) 1.73
Folate and DNA methylation: a mechanistic link between folate deficiency and colorectal cancer? Cancer Epidemiol Biomarkers Prev (2004) 1.72
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet (2009) 1.71
Plasma pyridoxal phosphate and pyridoxic acid and their relationship to plasma homocysteine in a representative sample of British men and women aged 65 years and over. Br J Nutr (1999) 1.67
Nutritional epigenetics: impact of folate deficiency on DNA methylation and colon cancer susceptibility. J Nutr (2005) 1.59
B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis (2006) 1.55
The many facets of hyperhomocysteinemia: studies from the Framingham cohorts. J Nutr (2006) 1.52
The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine. Am J Clin Nutr (1992) 1.50
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest (1985) 1.48
Vitamin B12 sources and bioavailability. Exp Biol Med (Maywood) (2007) 1.44
Homocysteine and coronary atherosclerosis. J Am Coll Cardiol (1996) 1.39
Plasma folate, vitamin B12, and homocysteine and prostate cancer risk: a prospective study. Int J Cancer (2005) 1.37
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest (1988) 1.37
Plasma vitamin B6 and the risk of colorectal cancer and adenoma in women. J Natl Cancer Inst (2005) 1.36
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. Am J Hum Genet (1990) 1.35
Blood folate levels: the latest NHANES results. NCHS Data Brief (2008) 1.32
Micronutrients and the risk of colorectal adenomas. Am J Epidemiol (1996) 1.27
Folate and one-carbon metabolism nutrients from supplements and diet in relation to breast cancer risk. Am J Clin Nutr (2008) 1.26
Folate-vitamin B-12 interaction in relation to cognitive impairment, anemia, and biochemical indicators of vitamin B-12 deficiency. Am J Clin Nutr (2009) 1.24
The Framingham Study: ITS 50-year legacy and future promise. J Atheroscler Thromb (2000) 1.24
Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr (2008) 1.23
Relation of Helicobacter pylori infection to plasma vitamin B12, folic acid, and homocysteine levels in patients who underwent diagnostic coronary arteriography. Am J Gastroenterol (2002) 1.11
MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations. Int J Cancer (2007) 1.09
The heritability of plasma homocysteine, and the influence of genetic variation in the homocysteine methylation pathway. QJM (2007) 1.09
One-carbon metabolism and prostate cancer risk: prospective investigation of seven circulating B vitamins and metabolites. Cancer Epidemiol Biomarkers Prev (2009) 1.07
Red cell and plasma folate, folate consumption, and the risk of colorectal adenomatous polyps. Cancer Epidemiol Biomarkers Prev (1996) 1.06
Dietary intake and status of folate and vitamin B12 and their association with homocysteine and cardiovascular disease in European populations. Eur J Clin Nutr (2007) 1.06
Prospective study of plasma folate, vitamin B12, and cognitive function and decline. Epidemiology (2006) 1.06
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res A Clin Mol Teratol (2009) 1.05
Vitamin B12 deficiency and gastric histopathology in older patients. World J Gastroenterol (2005) 1.03
One-carbon metabolism and breast cancer: an epidemiological perspective. J Genet Genomics (2009) 1.02
Plasma vitamin B12 concentrations and the risk of colorectal cancer: a nested case-referent study. Int J Cancer (2008) 1.02
Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae. J Biol Chem (1999) 1.01
Consequences of Helicobacter pylori infection on the absorption of micronutrients. Dig Liver Dis (2002) 0.99
B12 deficiency: a look beyond pernicious anemia. J Fam Pract (2007) 0.97
Hydrolysis of pyridoxal-5'-phosphate in plasma in conditions with raised alkaline phosphate. Gut (1980) 0.96
Relationship between plasma homocysteine and vitamin status in the Framingham study population. Impact of folic acid fortification. Public Health Rev (2000) 0.96
Open-access database of candidate associations from a genome-wide SNP scan of the Framingham Heart Study. Nat Genet (2007) 0.95
Regulation by nicotine of Gpr51 and Ntrk2 expression in various rat brain regions. Neuropsychopharmacology (2006) 0.93
Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography. Hum Genet (2002) 0.93
Gastric cancer in relation to the intake of nutrients involved in one-carbon metabolism among MTHFR 677 TT carriers. Eur J Nutr (2009) 0.91
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. J Clin Invest (1992) 0.91
Prospective study of plasma vitamin B6 and risk of colorectal cancer in men. Cancer Epidemiol Biomarkers Prev (2009) 0.89
Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): comparison to human intrinsic factor. Genomics (1992) 0.89
Novel genomic loci influencing plasma homocysteine levels. Stroke (2006) 0.88
A genome-wide linkage scan for homocysteine levels suggests three regions of interest. J Thromb Haemost (2006) 0.87
Vitamin B12 status and its association with Helicobacter pylori infection in alcohol dependent patients. J Nutr Sci Vitaminol (Tokyo) (2004) 0.87
Homocysteine levels--before and after methionine loading--in 51 Dutch families. Eur J Hum Genet (2005) 0.86
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum Mol Genet (1994) 0.85
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. Protein Sci (1996) 0.85
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. Hum Genet (1992) 0.84
Plasma homocysteine concentration, statin therapy, and the risk of first acute coronary events. Circulation (2002) 0.84
Smoking cessation, but not smoking reduction, reduces plasma homocysteine levels. Clin Cardiol (2002) 0.84
Novel functions of vitamin B6. Proc Nutr Soc (1994) 0.82
Cigarette smoking and plasma total homocysteine levels in young adults with type 1 diabetes. Diabetes Care (2000) 0.82
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase. Hum Mutat (2000) 0.81
Hyperhomocysteinaemia and vitamin B12 deficiency: the long-term effects in cardiovascular disease. Cardiology (2006) 0.79
Are fasting plasma homocyst(e)ine levels heritable? A study of normotensive twins. J Investig Med (2000) 0.78
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. J Hum Genet (1999) 0.78
Measurement of the amounts of the individual vitamin B12 binding proteins in plasma. II. Abnormalities in leukemia and pernicious anemia. Blood (1966) 0.76
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. Proc Natl Acad Sci U S A (1996) 0.76
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet (2007) 21.18
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet (2008) 17.65
Galaxy: a web-based genome analysis tool for experimentalists. Curr Protoc Mol Biol (2010) 17.00
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Replicating genotype-phenotype associations. Nature (2007) 16.11
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Multiple biomarkers for the prediction of first major cardiovascular events and death. N Engl J Med (2006) 15.60
Statistics in medicine--reporting of subgroup analyses in clinical trials. N Engl J Med (2007) 12.55
Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N Engl J Med (2002) 11.20
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Extracting principal diagnosis, co-morbidity and smoking status for asthma research: evaluation of a natural language processing system. BMC Med Inform Decis Mak (2006) 9.98
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet (2010) 9.07
Incidental meniscal findings on knee MRI in middle-aged and elderly persons. N Engl J Med (2008) 8.40
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Genetic risk prediction--are we there yet? N Engl J Med (2009) 7.30
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med (2005) 7.09
Diet quality and major chronic disease risk in men and women: moving toward improved dietary guidance. Am J Clin Nutr (2002) 6.96
Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet (2010) 6.60
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Sex hormone-binding globulin and risk of type 2 diabetes in women and men. N Engl J Med (2009) 6.16
Sugar-sweetened beverages and genetic risk of obesity. N Engl J Med (2012) 5.98
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Performance of common genetic variants in breast-cancer risk models. N Engl J Med (2010) 5.79
A randomized trial of multivitamin supplements and HIV disease progression and mortality. N Engl J Med (2004) 5.68
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet (2009) 5.14
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet (2010) 4.89
Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol (2010) 4.83
ABO blood group and the risk of pancreatic cancer. J Natl Cancer Inst (2009) 4.72
SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res (2006) 4.63
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet (2008) 4.57
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Pathway analysis by adaptive combination of P-values. Genet Epidemiol (2009) 4.48
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet (2012) 4.41
Folate and vitamin B-12 status in relation to anemia, macrocytosis, and cognitive impairment in older Americans in the age of folic acid fortification. Am J Clin Nutr (2007) 4.37
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Homocysteine as a predictive factor for hip fracture in older persons. N Engl J Med (2004) 4.34
A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A (2002) 4.22
The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Instrumenting the health care enterprise for discovery research in the genomic era. Genome Res (2009) 4.13
Design of a national distributed health data network. Ann Intern Med (2009) 4.09
Genome-wide association study of circulating vitamin D levels. Hum Mol Genet (2010) 4.07