Published in Proc Natl Acad Sci U S A on May 30, 2003
A comprehensive literature review of haplotyping software and methods for use with unrelated individuals. Hum Genomics (2005) 1.84
Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify "connectivity constellation" and drug target genes with pleiotropic effects. Ann N Y Acad Sci (2008) 1.69
MPDA: microarray pooled DNA analyzer. BMC Bioinformatics (2008) 1.11
Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest (2009) 1.10
A survey on haplotyping algorithms for tightly linked markers. J Bioinform Comput Biol (2008) 1.06
Maximum likelihood estimation of frequencies of known haplotypes from pooled sequence data. Mol Biol Evol (2013) 0.98
Optimal DNA pooling-based two-stage designs in case-control association studies. Hum Hered (2008) 0.97
PDA: Pooled DNA analyzer. BMC Bioinformatics (2006) 0.94
A survey of current software for haplotype phase inference. Hum Genomics (2004) 0.94
Selecting additional tag SNPs for tolerating missing data in genotyping. BMC Bioinformatics (2005) 0.86
Using DNA pools for genotyping trios. Nucleic Acids Res (2006) 0.84
A linear-time algorithm for reconstructing zero-recombinant haplotype configuration on a pedigree. BMC Bioinformatics (2012) 0.82
Fast and accurate haplotype frequency estimation for large haplotype vectors from pooled DNA data. BMC Genet (2012) 0.82
Integrated analysis of genetic data with R. Hum Genomics (2006) 0.82
Evaluation of DNA pooling for the estimation of microsatellite allele frequencies: a case study using striped bass (Morone saxatilis). Genetics (2006) 0.77
Testing linkage disequilibrium from pooled DNA: a contingency table perspective. Stat Med (2008) 0.75
Maximum-parsimony haplotype frequencies inference based on a joint constrained sparse representation of pooled DNA. BMC Bioinformatics (2013) 0.75
Constructing the parental linkage phase and the genetic map over distances <1 cM using pooled haploid DNA. Genetics (2005) 0.75
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol (1995) 30.55
Inference of haplotypes from PCR-amplified samples of diploid populations. Mol Biol Evol (1990) 16.18
An E-M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet (1995) 13.84
HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes. J Hered (1995) 13.52
Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. Am J Hum Genet (2000) 11.47
DNA Pooling: a tool for large-scale association studies. Nat Rev Genet (2002) 5.66
Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J Natl Cancer Inst (2000) 4.51
Pooled-sampling makes high-resolution mapping practical with DNA markers. Proc Natl Acad Sci U S A (1993) 3.33
Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design. Ann Hum Genet (2002) 2.51
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
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res (1998) 1.81
Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data. Am J Hum Genet (2003) 1.42
Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA. Am J Hum Genet (2000) 1.37
On the use of DNA pooling to estimate haplotype frequencies. Genet Epidemiol (2003) 1.33
A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. Am J Hum Genet (1998) 1.29
DNA pooling in mutation detection with reference to sequence analysis. Am J Hum Genet (1999) 1.27
Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans. J Biol Chem (2002) 1.18
Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium. Genet Epidemiol (2002) 1.10
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
International network of cancer genome projects. Nature (2010) 20.35
Replicating genotype-phenotype associations. Nature (2007) 16.11
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature (2008) 16.10
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. JAMA (2009) 12.35
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med (2009) 8.73
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
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci U S A (2003) 7.64
Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet (2009) 7.62
Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44
HTRA1 promoter polymorphism in wet age-related macular degeneration. Science (2006) 7.12
Lung cancer susceptibility locus at 5p15.33. Nat Genet (2008) 5.99
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science (2006) 5.67
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
Origin of dendritic cells in peripheral lymphoid organs of mice. Nat Immunol (2007) 5.31
Nosocomial transmission of human granulocytic anaplasmosis in China. JAMA (2008) 5.01
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet (2007) 4.61
Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet (2003) 4.18
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Effect of 17q21 variants and smoking exposure in early-onset asthma. N Engl J Med (2008) 3.90
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
The clock gene Per2 influences the glutamatergic system and modulates alcohol consumption. Nat Med (2004) 3.63
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Distribution and characterization of regulatory elements in the human genome. Genome Res (2002) 3.34
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet (2010) 3.22
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Genetic signatures of exceptional longevity in humans. PLoS One (2012) 3.20
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet (2006) 3.17
Family-based designs for genome-wide association studies. Nat Rev Genet (2011) 3.12
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
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst (2011) 3.05
Age-related macular degeneration--a genome scan in extended families. Am J Hum Genet (2003) 2.99
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat Genet (2010) 2.96
CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology (2008) 2.90
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
A high-density SNP-based linkage map of the chicken genome reveals sequence features correlated with recombination rate. Genome Res (2008) 2.70
Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'. Int J Epidemiol (2006) 2.68
CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res (2008) 2.65
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood (2009) 2.64
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis (2009) 2.53
A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol (2009) 2.53
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab (2008) 2.53
Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet (2010) 2.51
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet (2009) 2.44
Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. Am J Psychiatry (2010) 2.41
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet (2013) 2.40
Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype. Lancet (2003) 2.40
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. Nat Genet (2010) 2.34
SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet (2012) 2.31
A variant in the CD209 promoter is associated with severity of dengue disease. Nat Genet (2005) 2.31
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet (2010) 2.21
Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. JAMA (2010) 2.20
Downregulation of miR-21 inhibits EGFR pathway and suppresses the growth of human glioblastoma cells independent of PTEN status. Lab Invest (2010) 2.17
Genome-wide association study of major recurrent depression in the U.K. population. Am J Psychiatry (2010) 2.17
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet (2006) 2.07
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03
The DNA sequence and analysis of human chromosome 14. Nature (2003) 2.02
Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. J Invest Dermatol (2006) 2.01
Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst (2012) 1.99
Adolescent impulsivity phenotypes characterized by distinct brain networks. Nat Neurosci (2012) 1.98
Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals. Int J Epidemiol (2009) 1.97
Genome-wide association study of glioma and meta-analysis. Hum Genet (2012) 1.96
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet (2003) 1.94