Published in Genet Epidemiol on September 01, 2010
Vitamin D-related genetic variation, plasma vitamin D, and risk of lethal prostate cancer: a prospective nested case-control study. J Natl Cancer Inst (2012) 1.79
Down syndrome: searching for the genetic culprits. Dis Model Mech (2011) 1.28
Kernel machine SNP-set testing under multiple candidate kernels. Genet Epidemiol (2013) 1.04
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population. Cell Res (2012) 0.88
Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth Defects Res A Clin Mol Teratol (2011) 0.87
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS One (2013) 0.86
Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis. PLoS One (2014) 0.85
Association between 5, 10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and congenital heart disease: A meta-analysis. Meta Gene (2013) 0.84
DNA methylation abnormalities in congenital heart disease. Epigenetics (2015) 0.83
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways. PLoS One (2012) 0.81
Association between methionine synthase reductase A66G polymorphism and the risk of congenital heart defects: evidence from eight case-control studies. Pediatr Cardiol (2014) 0.81
Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease. PLoS One (2015) 0.80
Rare de novo copy number variants in patients with congenital pulmonary atresia. PLoS One (2014) 0.80
Possible selection of host folate pathway gene polymorphisms in patients with malaria from a malaria endemic region in North East India. Trans R Soc Trop Med Hyg (2016) 0.79
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects. G3 (Bethesda) (2015) 0.78
The use of mouse models for understanding the biology of down syndrome and aging. Curr Gerontol Geriatr Res (2012) 0.77
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects. Genet Med (2014) 0.76
Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier. Genetics (2016) 0.76
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects. Front Genet (2015) 0.75
[Turner syndrome and genetic polymorphism: a systematic review]. Rev Paul Pediatr (2015) 0.75
Systematic Tracking of Disrupted Modules Identifies Altered Pathways Associated with Congenital Heart Defects in Down Syndrome. Med Sci Monit (2015) 0.75
The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis. Nutrients (2013) 0.75
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
A haplotype map of the human genome. Nature (2005) 105.70
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
Genomic control for association studies. Biometrics (1999) 64.39
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27
Implementing a unified approach to family-based tests of association. Genet Epidemiol (2000) 10.96
A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered (2000) 10.32
The family based association test method: strategies for studying general genotype--phenotype associations. Eur J Hum Genet (2001) 9.09
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab (1998) 5.06
A powerful and flexible multilocus association test for quantitative traits. Am J Hum Genet (2008) 4.96
Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Recomm Rep (1992) 4.22
Trisomy in man. Annu Rev Genet (1984) 4.15
National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol (2006) 4.08
Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models. BMC Bioinformatics (2008) 3.70
Population-based study of congenital heart defects in Down syndrome. Am J Med Genet (1998) 2.74
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab (2000) 2.33
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur Heart J (2006) 1.84
Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage. Am J Clin Nutr (2005) 1.77
The prevalence of folate-remedial MTHFR enzyme variants in humans. Proc Natl Acad Sci U S A (2008) 1.44
Study of Down syndrome in 238,942 consecutive births. Ann Genet (1998) 1.43
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36
The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35
Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am J Hum Genet (2001) 1.34
Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet A (2003) 1.33
Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study. BMJ (2004) 1.24
Genetic variation in genes of folate metabolism and neural-tube defect risk. Proc Nutr Soc (2006) 1.23
The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. QJM (2007) 1.20
Plasma folate levels and risk of spontaneous abortion. JAMA (2002) 1.17
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet (2002) 1.17
Cystathionine beta synthase: gene dosage effect in trisomy 21. Biochem Biophys Res Commun (1985) 1.15
Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene. J Med Genet (2005) 1.13
Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res (2001) 1.10
Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol (2001) 1.08
Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. Genet Epidemiol (2009) 1.06
Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Am J Med Genet A (2008) 1.05
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol (2004) 1.03
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. Ann Epidemiol (2005) 0.99
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects. Am J Epidemiol (2003) 0.98
Homocysteine, folate, and congenital heart defects. Fetal Pediatr Pathol (2005) 0.94
Is absence of atheroma in Down syndrome due to decreased homocysteine levels? Lancet (1988) 0.94
Smarter clustering methods for SNP genotype calling. Bioinformatics (2008) 0.93
Importance of folate-homocysteine homeostasis during early embryonic development. Clin Chem Lab Med (2007) 0.93
Two MTHFR polymorphisms, maternal B-vitamin intake, and CHDs. Birth Defects Res A Clin Mol Teratol (2008) 0.91
A trisomic transmission disequilibrium test. Genet Epidemiol (2004) 0.86
Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature. Eur J Obstet Gynecol Reprod Biol (2005) 0.86
Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart. J Nutr (2006) 0.84
Folate metabolism and the risk of Down syndrome. Downs Syndr Res Pract (2008) 0.80
Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88
Quality of life and satisfaction with outcome among prostate-cancer survivors. N Engl J Med (2008) 18.60
Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57
LKB1 modulates lung cancer differentiation and metastasis. Nature (2007) 7.80
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
Association of FKBP5 polymorphisms and childhood abuse with risk of posttraumatic stress disorder symptoms in adults. JAMA (2008) 6.60
Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet (2010) 6.60
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
A powerful and flexible multilocus association test for quantitative traits. Am J Hum Genet (2008) 4.96
450K epigenome-wide scan identifies differential DNA methylation in newborns related to maternal smoking during pregnancy. Environ Health Perspect (2012) 4.89
Aberrant lipid metabolism disrupts calcium homeostasis causing liver endoplasmic reticulum stress in obesity. Nature (2011) 4.78
Optimal tests for rare variant effects in sequencing association studies. Biostatistics (2012) 4.69
Semiparametric regression of multidimensional genetic pathway data: least-squares kernel machines and linear mixed models. Biometrics (2007) 4.66
Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene. Arch Gen Psychiatry (2008) 4.65
The FMR1 premutation and reproduction. Fertil Steril (2006) 3.85
Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models. BMC Bioinformatics (2008) 3.70
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Hypothesis testing in semiparametric additive mixed models. Biostatistics (2003) 3.63
The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol (2010) 3.48
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Comparison of prospective and retrospective methods for haplotype inference in case-control studies. Genet Epidemiol (2004) 2.60
Hybrid approach for hypoplastic left heart syndrome: intermediate results after the learning curve. Ann Thorac Surg (2008) 2.59
Comprehensive literature review and statistical considerations for microarray meta-analysis. Nucleic Acids Res (2012) 2.54
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. Diabetes (2004) 2.46
Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet (2013) 2.41
Association tests using kernel-based measures of multi-locus genotype similarity between individuals. Genet Epidemiol (2010) 2.39
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20
Genetic variants on 15q25.1, smoking, and lung cancer: an assessment of mediation and interaction. Am J Epidemiol (2012) 2.16
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12
Genetic analysis of variation in human meiotic recombination. PLoS Genet (2009) 2.11
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A (2007) 2.10
SNP set association analysis for familial data. Genet Epidemiol (2012) 2.08
Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet (2002) 2.07
Semiparametric modeling of longitudinal measurements and time-to-event data--a two-stage regression calibration approach. Biometrics (2008) 2.05
Hyperglycemia is a marker for poor outcome in the postoperative pediatric cardiac patient. Pediatr Crit Care Med (2006) 2.04
Decreased expression of miR-125b and miR-100 in oral cancer cells contributes to malignancy. Genes Chromosomes Cancer (2009) 1.98
What's the best statistic for a simple test of genetic association in a case-control study? Genet Epidemiol (2010) 1.95
VEGF polymorphisms and survival in early-stage non-small-cell lung cancer. J Clin Oncol (2008) 1.94
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet (2004) 1.88
Regression-based quantitative-trait-locus mapping in the 21st century. Am J Hum Genet (2002) 1.87
General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet (2013) 1.86
Mixtures of varying coefficient models for longitudinal data with discrete or continuous nonignorable dropout. Biometrics (2004) 1.85
Peripheral blood mononuclear cell gene expression profiles predict poor outcome in idiopathic pulmonary fibrosis. Sci Transl Med (2013) 1.81
Comprehensive literature review and statistical considerations for GWAS meta-analysis. Nucleic Acids Res (2012) 1.75
Impact of physician asthma care education on patient outcomes. Pediatrics (2006) 1.70
A comparison of methods for estimating the causal effect of a treatment in randomized clinical trials subject to noncompliance. Biometrics (2008) 1.70
A varying-coefficient Cox model for the effect of age at a marker event on age at menopause. Biometrics (2005) 1.68
New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet (2008) 1.68
Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev (2007) 1.67
Clinical presentation, recurrence, and survival in patients with neuroendocrine tumors: results from a prospective institutional database. Endocr Relat Cancer (2013) 1.62
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57
Family-based association tests for sequence data, and comparisons with population-based association tests. Eur J Hum Genet (2013) 1.55
A genome scan for loci shared by autism spectrum disorder and language impairment. Am J Psychiatry (2014) 1.55
Genome-wide analysis of survival in early-stage non-small-cell lung cancer. J Clin Oncol (2009) 1.52
Development and validation of a prioritization rule for obtaining an immediate 12-lead electrocardiogram in the emergency department to identify ST-elevation myocardial infarction. Am Heart J (2012) 1.52
A tobit variance-component method for linkage analysis of censored trait data. Am J Hum Genet (2003) 1.49
Pharmacologic prophylaxis and risk factors for intraoperative floppy-iris syndrome in phacoemulsification performed by resident physicians. J Cataract Refract Surg (2010) 1.47
The effect of correlation in false discovery rate estimation. Biometrika (2011) 1.46
Scaled marginal models for multiple continuous outcomes. Biostatistics (2003) 1.46
Replication of a genome-wide association study of birth weight in preterm neonates. J Pediatr (2011) 1.45
Air pollution-associated changes in lung function among asthmatic children in Detroit. Environ Health Perspect (2005) 1.45
Necrotizing enterocolitis in neonates undergoing the hybrid approach to complex congenital heart disease. Pediatr Crit Care Med (2011) 1.44
Increased calcium supplementation is associated with morbidity and mortality in the infant postoperative cardiac patient. Pediatr Crit Care Med (2007) 1.43
Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study. Birth Defects Res A Clin Mol Teratol (2008) 1.43
Identification of driver genes in hepatocellular carcinoma by exome sequencing. Hepatology (2013) 1.41
Phenotypic Characterization of Juvenile Idiopathic Arthritis in African American Children. J Rheumatol (2016) 1.41
Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Am J Hum Genet (2011) 1.40
Hypospadias in California: trends and descriptive epidemiology. Epidemiology (2003) 1.39
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 1.36
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol (2008) 1.36
The National Down Syndrome Project: design and implementation. Public Health Rep (2007) 1.35
Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. Genet Epidemiol (2012) 1.35
Ascertainment-adjusted parameter estimates revisited. Am J Hum Genet (2002) 1.34
Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer. Carcinogenesis (2005) 1.33
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat (2013) 1.32
Sparse linear discriminant analysis for simultaneous testing for the significance of a gene set/pathway and gene selection. Bioinformatics (2009) 1.32
Semiparametric Maximum Likelihood Estimation in Normal Transformation Models for Bivariate Survival Data. Biometrika (2008) 1.31
The role of choice in health education intervention trials: a review and case study. Soc Sci Med (2003) 1.30
Kernel machine approach to testing the significance of multiple genetic markers for risk prediction. Biometrics (2011) 1.30
Genome-wide association analysis for multiple continuous secondary phenotypes. Am J Hum Genet (2013) 1.29
Kernel machine SNP-set analysis for censored survival outcomes in genome-wide association studies. Genet Epidemiol (2011) 1.29
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29