Published in Nat Genet on December 03, 2001
Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet (2004) 14.76
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Family-based association tests for genomewide association scans. Am J Hum Genet (2007) 10.67
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet (2007) 8.63
Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet (2006) 7.13
In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80
Human metabolic individuality in biomedical and pharmaceutical research. Nature (2011) 6.56
ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics (2010) 6.46
A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med (2011) 6.40
Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet (2005) 6.12
Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A (2007) 5.95
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Robust relationship inference in genome-wide association studies. Bioinformatics (2010) 5.57
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet (2002) 5.20
Multilocus association mapping using variable-length Markov chains. Am J Hum Genet (2006) 5.13
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet (2007) 5.02
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites. Am J Hum Genet (2004) 4.76
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet (2011) 4.52
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29
Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics (2012) 4.28
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
A fast, powerful method for detecting identity by descent. Am J Hum Genet (2011) 4.26
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet (2009) 4.24
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet (2006) 4.22
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. Am J Hum Genet (2004) 3.83
Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees. BMC Proc (2014) 3.82
Case-control association testing with related individuals: a more powerful quasi-likelihood score test. Am J Hum Genet (2007) 3.74
A second-generation combined linkage physical map of the human genome. Genome Res (2007) 3.60
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49
Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. PLoS Genet (2007) 3.47
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Mapping of a major locus that determines telomere length in humans. Am J Hum Genet (2004) 3.33
Mapping genetic loci that determine leukocyte telomere length in a large sample of unselected female sibling pairs. Am J Hum Genet (2006) 3.25
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet (2003) 3.23
An atlas of genetic influences on human blood metabolites. Nat Genet (2014) 3.21
A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Am J Hum Genet (2005) 3.20
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet (2006) 3.17
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci U S A (2007) 3.10
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology (2014) 2.96
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. Biol Psychiatry (2011) 2.87
A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet (2005) 2.85
Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol (2010) 2.80
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
CUBN is a gene locus for albuminuria. J Am Soc Nephrol (2011) 2.70
Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. Proc Natl Acad Sci U S A (2005) 2.68
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66
Case-control association testing in the presence of unknown relationships. Genet Epidemiol (2009) 2.63
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet (2011) 2.63
Genomewide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative. Am J Hum Genet (2003) 2.55
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet (2008) 2.53
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Genet (2007) 2.51
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet (2010) 2.50
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
Fine mapping of the association with obesity at the FTO locus in African-derived populations. Hum Mol Genet (2010) 2.48
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes (2010) 2.44
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. PLoS Genet (2010) 2.43
Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42
Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am J Hum Genet (2004) 2.41
Common genetic variants influence human subcortical brain structures. Nature (2015) 2.40
A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet (2014) 2.38
A forest-based approach to identifying gene and gene gene interactions. Proc Natl Acad Sci U S A (2007) 2.36
Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia. Proc Natl Acad Sci U S A (2004) 2.36
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest (2012) 2.33
Comparison of microsatellites versus single-nucleotide polymorphisms in a genome linkage screen for prostate cancer-susceptibility Loci. Am J Hum Genet (2004) 2.31
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet (2009) 2.29
Genome partitioning of genetic variation for height from 11,214 sibling pairs. Am J Hum Genet (2007) 2.27
Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Hum Mol Genet (2008) 2.26
The importance of phase information for human genomics. Nat Rev Genet (2011) 2.25
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet (2005) 2.21
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
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Replicating genotype-phenotype associations. Nature (2007) 16.11
The effects of human population structure on large genetic association studies. Nat Genet (2004) 14.88
Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet (2005) 14.88
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Evaluating coverage of genome-wide association studies. Nat Genet (2006) 11.40
Genome-wide genetic association of complex traits in heterogeneous stock mice. Nat Genet (2006) 9.87
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
Thousands of chemical starting points for antimalarial lead identification. Nature (2010) 8.28
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03
Two-stage two-locus models in genome-wide association. PLoS Genet (2006) 5.60
The complex interplay among factors that influence allelic association. Nat Rev Genet (2004) 5.26
Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet (2002) 5.20
Diabetes prevalence and therapeutic target achievement in the United States, 1999 to 2006. Am J Med (2009) 4.53
Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes. Am J Hum Genet (2004) 4.44
Reagent and laboratory contamination can critically impact sequence-based microbiome analyses. BMC Biol (2014) 4.39
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms. Am J Hum Genet (2008) 4.28
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A (2004) 3.73
Data quality control in genetic case-control association studies. Nat Protoc (2010) 3.68
Measures of human population structure show heterogeneity among genomic regions. Genome Res (2005) 3.68
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
Genetic and environmental effects on complex traits in mice. Genetics (2006) 3.27
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet (2005) 2.85
Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol (2011) 2.78
The impact of SNP density on fine-scale patterns of linkage disequilibrium. Hum Mol Genet (2004) 2.78
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA (2008) 2.73
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet (2005) 2.66
GOLDsurfer: three dimensional display of linkage disequilibrium. Bioinformatics (2004) 2.61
Efficient selective screening of haplotype tag SNPs. Bioinformatics (2003) 2.57
An 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28. J Cereb Blood Flow Metab (2011) 2.52
Use of genome-wide association studies for drug repositioning. Nat Biotechnol (2012) 2.51
The impact of genotyping error on haplotype reconstruction and frequency estimation. Eur J Hum Genet (2002) 2.51
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat Genet (2001) 2.48
Designing candidate gene and genome-wide case-control association studies. Nat Protoc (2007) 2.42
The portability of tagSNPs across populations: a worldwide survey. Genome Res (2006) 1.99
Significance of the microbiome in obstructive lung disease. Thorax (2012) 1.97
A protocol for high-throughput phenotyping, suitable for quantitative trait analysis in mice. Mamm Genome (2006) 1.96
Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. Am J Hum Genet (2004) 1.94
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets. Hum Genet (2011) 1.93
Basic statistical analysis in genetic case-control studies. Nat Protoc (2011) 1.86
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. Am J Hum Genet (2004) 1.76
Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. Hum Mol Genet (2002) 1.76
Functional epistasis on a common MHC haplotype associated with multiple sclerosis. Nature (2006) 1.75
A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations. Am J Hum Genet (2005) 1.75
TUCAN (CARD8) genetic variants and inflammatory bowel disease. Gastroenterology (2006) 1.73
Genetic and environmental contributions to general cognitive ability through the first 16 years of life. Dev Psychol (2004) 1.68
Shaking the tree: mapping complex disease genes with linkage disequilibrium. Lancet (2005) 1.67
Fine mapping versus replication in whole-genome association studies. Am J Hum Genet (2007) 1.64
Use of multivariate linkage analysis for dissection of a complex cognitive trait. Am J Hum Genet (2003) 1.62
Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors. Genome Res (2012) 1.60
HLA-DQA1*02:01 is a major risk factor for lapatinib-induced hepatotoxicity in women with advanced breast cancer. J Clin Oncol (2011) 1.60
What makes a good case-control study? Design issues for complex traits such as endometriosis. Hum Reprod (2002) 1.59
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A (2009) 1.56
Pazopanib efficacy in renal cell carcinoma: evidence for predictive genetic markers in angiogenesis-related and exposure-related genes. J Clin Oncol (2011) 1.56
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. Am J Hum Genet (2012) 1.49
Confirmation of the role of ATG16L1 as a Crohn's disease susceptibility gene. Inflamm Bowel Dis (2007) 1.47
Optimal selection strategies for QTL mapping using pooled DNA samples. Eur J Hum Genet (2002) 1.45
Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples. Hum Mol Genet (2004) 1.41
Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet (2001) 1.32
Gene-environment interactions in chronic inflammatory disease. Nat Immunol (2011) 1.30
Evaluating the results of genomewide linkage scans of complex traits by locus counting. Am J Hum Genet (2002) 1.30
Site and gender specificity of inheritance of bone mineral density. J Bone Miner Res (2003) 1.30
Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening. Am J Hum Genet (2011) 1.26
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet (2006) 1.26
Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Res (2005) 1.25
Comparisons of seven algorithms for pathway analysis using the WTCCC Crohn's Disease dataset. BMC Res Notes (2011) 1.24
The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet (2004) 1.24
To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies? Eur J Hum Genet (2008) 1.24
Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder. Am J Med Genet (2002) 1.22
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. J Natl Cancer Inst (2009) 1.21
Familial aggregation of endometriosis in a large pedigree of rhesus macaques. Hum Reprod (2004) 1.18
Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype. Inflamm Bowel Dis (2007) 1.18
The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits. PLoS One (2011) 1.18
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. Hum Mol Genet (2010) 1.17
Association of genetic variants in the adiponectin gene with adiponectin level and hypertension in Hong Kong Chinese. Eur J Endocrinol (2010) 1.17
Genotype prediction using a dense map of SNPs. Genet Epidemiol (2004) 1.16
Impaired intellect and memory: a missing link between genetic risk and schizophrenia? Arch Gen Psychiatry (2010) 1.15
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res (2012) 1.14
Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships. Hum Mol Genet (2004) 1.14
Genetic and perinatal risk factors for asthma onset and severity: a review and theoretical analysis. Epidemiol Rev (2002) 1.14
Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins. Twin Res Hum Genet (2007) 1.12
Marker selection for genetic case-control association studies. Nat Protoc (2009) 1.12
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
Prospects and pitfalls in whole genome association studies. Philos Trans R Soc Lond B Biol Sci (2005) 1.09
A knowledge-based weighting framework to boost the power of genome-wide association studies. PLoS One (2010) 1.08
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum Mol Genet (2011) 1.07