Published in Am J Hum Genet on January 08, 2002
Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet (2002) 4.89
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Factors affecting statistical power in the detection of genetic association. J Clin Invest (2005) 2.02
A comprehensive literature review of haplotyping software and methods for use with unrelated individuals. Hum Genomics (2005) 1.84
Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. Am J Obstet Gynecol (2010) 1.75
Testing for Hardy-Weinberg equilibrium in samples with related individuals. Genetics (2004) 1.75
Incorporating genotyping uncertainty in haplotype inference for single-nucleotide polymorphisms. Am J Hum Genet (2004) 1.66
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles. Nucleic Acids Res (2012) 1.65
New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Genet (2006) 1.46
Identifying nineteenth century genealogical links from genotypes. Hum Genet (2005) 1.17
A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. Eur J Hum Genet (2004) 1.13
SNP genotyping on a genome-wide amplified DOP-PCR template. Nucleic Acids Res (2002) 1.13
Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy-Weinberg equilibrium. Eur J Hum Genet (2009) 1.12
Optimal two-stage design for case-control association analysis incorporating genotyping errors. Ann Hum Genet (2008) 1.12
Are molecular haplotypes worth the time and expense? A cost-effective method for applying molecular haplotypes. PLoS Genet (2006) 1.09
Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study. BMC Med Genet (2013) 1.04
Genotyping error detection through tightly linked markers. Genetics (2003) 0.99
Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: strong evidence for a chromosome 4 risk locus. Am J Hum Genet (2006) 0.94
Transmission-ratio distortion in the Framingham Heart Study. BMC Proc (2009) 0.93
Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet (2011) 0.93
The cost effectiveness of duplicate genotyping for testing genetic association. Ann Hum Genet (2009) 0.92
Simultaneously correcting for population stratification and for genotyping error in case-control association studies. Am J Hum Genet (2007) 0.91
Integration of SNP genotyping confidence scores in IBD inference. Bioinformatics (2011) 0.90
Haplotyping methods for pedigrees. Hum Hered (2009) 0.90
Incorporating duplicate genotype data into linear trend tests of genetic association: methods and cost-effectiveness. Stat Appl Genet Mol Biol (2009) 0.89
On quality control measures in genome-wide association studies: a test to assess the genotyping quality of individual probands in family-based association studies and an application to the HapMap data. PLoS Genet (2009) 0.88
A heterozygote-homozygote test of Hardy-Weinberg equilibrium. Eur J Hum Genet (2009) 0.87
Estimating haplotype frequencies in pooled DNA samples when there is genotyping error. BMC Genet (2005) 0.87
Detection of Mendelian consistent genotyping errors in pedigrees. Genet Epidemiol (2014) 0.85
Using Mendelian inheritance to improve high-throughput SNP discovery. Genetics (2014) 0.84
Genotyping error detection in samples of unrelated individuals without replicate genotyping. Hum Hered (2008) 0.82
Polymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age. J Matern Fetal Neonatal Med (2010) 0.81
Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics (2012) 0.79
Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype data. Hum Hered (2008) 0.78
Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond. Genet Epidemiol (2014) 0.78
Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set. BMC Proc (2014) 0.78
Calculation of multipoint likelihoods using flanking marker data: a simulation study. BMC Genet (2005) 0.77
Pharmacogenetic evaluation of ABCB1, Cyp2C9, Cyp2C19 and methylene tetrahydrofolate reductase polymorphisms in teratogenicity of anti-epileptic drugs in women with epilepsy. Ann Indian Acad Neurol (2014) 0.77
Trend-TDT - a transmission/disequilibrium based association test on functional mini/microsatellites. BMC Genet (2007) 0.75
Rules for resolving Mendelian inconsistencies in nuclear pedigrees typed for two-allele markers. PLoS One (2017) 0.75
Effect of genotyping error in model-free linkage analysis using microsatellite or single-nucleotide polymorphism marker maps. BMC Genet (2005) 0.75
PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25
Mutation of human short tandem repeats. Hum Mol Genet (1993) 14.03
Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet (1997) 7.78
Statistical tests for detection of misspecified relationships by use of genome-screen data. Am J Hum Genet (2000) 6.96
The estimation of pairwise relationships. Ann Hum Genet (1975) 6.87
Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet (2002) 4.89
Improved inference of relationship for pairs of individuals. Am J Hum Genet (2000) 4.47
Relationship estimation in affected sib pair analysis of late-onset diseases. Eur J Hum Genet (1997) 4.16
A multipoint method for detecting genotyping errors and mutations in sibling-pair linkage data. Am J Hum Genet (2000) 3.22
Error detection for genetic data, using likelihood methods. Am J Hum Genet (1996) 3.11
Identifying marker typing incompatibilities in linkage analysis. Am J Hum Genet (1996) 3.06
Identification and analysis of error types in high-throughput genotyping. Am J Hum Genet (2000) 2.23
True pedigree errors more frequent than apparent errors for single nucleotide polymorphisms. Hum Hered (1999) 1.88
An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design. Pac Symp Biocomput (2000) 1.18
Finding the missing heritability of complex diseases. Nature (2009) 67.95
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet (2006) 17.36
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
LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature (2003) 12.10
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
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
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
So many correlated tests, so little time! Rapid adjustment of P values for multiple correlated tests. Am J Hum Genet (2007) 6.26
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med (2014) 6.12
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet (2008) 4.84
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Genome-wide association studies in diverse populations. Nat Rev Genet (2010) 4.68
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. Lancet (2012) 4.63
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Optimal designs for two-stage genome-wide association studies. Genet Epidemiol (2007) 4.22
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol (2010) 4.08
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med (2011) 3.94
Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am J Hum Genet (2005) 3.62
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Ordered subset analysis in genetic linkage mapping of complex traits. Genet Epidemiol (2004) 2.92
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am J Hum Genet (2006) 2.72
Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample. Diabetes (2006) 2.58
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet (2012) 2.55
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
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
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes (2010) 2.44
Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST). Am J Hum Genet (2004) 2.43
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes (2004) 2.43
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. Proc Natl Acad Sci U S A (2002) 2.32
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab (2010) 2.21
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20
Increasing the power and efficiency of disease-marker case-control association studies through use of allele-sharing information. Am J Hum Genet (2004) 2.19
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations. Genetics (2010) 2.06
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes (2006) 2.03
Quantifying and correcting for the winner's curse in genetic association studies. Genet Epidemiol (2009) 2.02
Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes (2008) 2.01
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet (2012) 1.94
Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes (2009) 1.87
General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet (2013) 1.86
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. PLoS Genet (2011) 1.81
Tissue-specific alternative splicing of TCF7L2. Hum Mol Genet (2009) 1.80
Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 Finnish men. Diabetes (2012) 1.78
Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies. Genet Epidemiol (2009) 1.76
Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes (2007) 1.74
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database. Genet Epidemiol (2006) 1.74
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Hum Mol Genet (2008) 1.65
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet (2009) 1.61
Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol (2009) 1.60
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants. Genet Epidemiol (2013) 1.52
Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry. PLoS Genet (2013) 1.51
A tobit variance-component method for linkage analysis of censored trait data. Am J Hum Genet (2003) 1.49
QTLRel: an R package for genome-wide association studies in which relatedness is a concern. BMC Genet (2011) 1.46
Trait-stratified genome-wide association study identifies novel and diverse genetic associations with serologic and cytokine phenotypes in systemic lupus erythematosus. Arthritis Res Ther (2010) 1.45
Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma. Nat Med (2011) 1.42
Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands. Am J Med Genet (2002) 1.35
X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics (2002) 1.34
Ascertainment-adjusted parameter estimates revisited. Am J Hum Genet (2002) 1.34
Meta-analysis of genome-wide linkage studies in BMI and obesity. Obesity (Silver Spring) (2007) 1.32
Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes. Diabetes (2013) 1.25