Published in Hum Mol Genet on October 01, 2002
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet (2008) 26.79
A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet (2004) 14.76
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet (2007) 9.80
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36
Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67
A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered (2010) 5.95
Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci U S A (2005) 5.94
Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A (2009) 5.61
Genetic design and statistical power of nested association mapping in maize. Genetics (2008) 4.92
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol (2008) 4.53
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet (2010) 4.20
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet (2005) 3.76
Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet (2009) 3.72
Improved heritability estimation from genome-wide SNPs. Am J Hum Genet (2012) 3.48
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet (2010) 3.47
Comparison of statistical tests for disease association with rare variants. Genet Epidemiol (2011) 3.42
A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet (2011) 3.13
Nonparametric tests of association of multiple genes with human disease. Am J Hum Genet (2005) 2.87
The emerging genetic architecture of type 2 diabetes. Cell Metab (2008) 2.77
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Next-generation phenotyping: requirements and strategies for enhancing our understanding of genotype-phenotype relationships and its relevance to crop improvement. Theor Appl Genet (2013) 2.75
To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests. Am J Hum Genet (2010) 2.63
Natural selection on genes that underlie human disease susceptibility. Curr Biol (2008) 2.49
Integration of text- and data-mining using ontologies successfully selects disease gene candidates. Nucleic Acids Res (2005) 2.46
The genetics of asthma and allergic disease: a 21st century perspective. Immunol Rev (2011) 2.44
What can genome-wide association studies tell us about the genetics of common disease? PLoS Genet (2008) 2.35
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
Biases and reconciliation in estimates of linkage disequilibrium in the human genome. Am J Hum Genet (2006) 2.26
Geography is a better determinant of human genetic differentiation than ethnicity. Hum Genet (2005) 2.20
Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet (2010) 2.06
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01
Theoretical models of selection and mutation on quantitative traits. Philos Trans R Soc Lond B Biol Sci (2005) 2.00
A covering method for detecting genetic associations between rare variants and common phenotypes. PLoS Comput Biol (2010) 1.98
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet (2016) 1.90
New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet (2010) 1.81
Joint estimates of quantitative trait locus effect and frequency using synthetic recombinant populations of Drosophila melanogaster. Genetics (2007) 1.78
An evolutionary framework for association testing in resequencing studies. PLoS Genet (2010) 1.74
Bayesian analysis of rare variants in genetic association studies. Genet Epidemiol (2011) 1.73
The use of racial, ethnic, and ancestral categories in human genetics research. Am J Hum Genet (2005) 1.73
Simulations provide support for the common disease-common variant hypothesis. Genetics (2006) 1.72
The complex genetics of multiple sclerosis: pitfalls and prospects. Brain (2008) 1.68
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects. PLoS Genet (2011) 1.61
A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS Genet (2012) 1.57
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet (2005) 1.56
A genome-wide association study of aging. Neurobiol Aging (2011) 1.54
Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet (2010) 1.54
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
Exchangeable models of complex inherited diseases. Genetics (2008) 1.53
Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth. Pediatr Res (2007) 1.53
A population threshold for functional polymorphisms. Genome Res (2003) 1.52
Genetic dissection of a model complex trait using the Drosophila Synthetic Population Resource. Genome Res (2012) 1.51
Adaptive tests for association analysis of rare variants. Genet Epidemiol (2011) 1.48
An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population. PLoS Genet (2006) 1.47
Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov (2008) 1.45
Incorporating model uncertainty in detecting rare variants: the Bayesian risk index. Genet Epidemiol (2011) 1.41
Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Am J Hum Genet (2011) 1.40
Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci (2009) 1.39
Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus. PLoS One (2015) 1.39
Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis (2011) 1.39
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Type 2 Diabetes Risk Allele Loci in the Qatari Population. PLoS One (2016) 1.38
Evaluating empirical bounds on complex disease genetic architecture. Nat Genet (2013) 1.37
Entropy-based SNP selection for genetic association studies. Hum Genet (2003) 1.36
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics (2010) 1.36
Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Am J Med Genet B Neuropsychiatr Genet (2008) 1.35
Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. Ann Hum Genet (2009) 1.32
Human genetics of infectious diseases: a unified theory. EMBO J (2007) 1.32
Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res (2011) 1.31
Approaches for evaluating rare polymorphisms in genetic association studies. Hum Hered (2010) 1.30
Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J (2011) 1.27
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol (2011) 1.26
Functional consequences of PRODH missense mutations. Am J Hum Genet (2005) 1.21
An optimal weighted aggregated association test for identification of rare variants involved in common diseases. Genetics (2011) 1.21
Intra- and interpopulation genotype reconstruction from tagging SNPs. Genome Res (2006) 1.21
High-throughput, high-accuracy array-based resequencing. Proc Natl Acad Sci U S A (2009) 1.14
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet (2005) 1.13
Type 2 Diabetes Genetics: Beyond GWAS. J Diabetes Metab (2012) 1.09
Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proc Natl Acad Sci U S A (2015) 1.09
Does haplotype diversity predict power for association mapping of disease susceptibility? Hum Genet (2004) 1.07
A population genetic approach to mapping neurological disorder genes using deep resequencing. PLoS Genet (2011) 1.07
A multi-SNP locus-association method reveals a substantial fraction of the missing heritability. Am J Hum Genet (2012) 1.07
Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. BMC Bioinformatics (2014) 1.06
What role for genetics in the prediction of multiple sclerosis? Ann Neurol (2010) 1.05
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection. J Hepatol (2009) 1.02
Human genomic disease variants: a neutral evolutionary explanation. Genome Res (2012) 1.02
Efficient utilization of rare variants for detection of disease-related genomic regions. PLoS One (2010) 1.02
A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases. J Med Genet (2005) 1.02
Pedigree-based random effect tests to screen gene pathways. BMC Proc (2014) 1.02
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Antigenic and genetic characteristics of swine-origin 2009 A(H1N1) influenza viruses circulating in humans. Science (2009) 25.61
Influenza-associated hospitalizations in the United States. JAMA (2004) 18.23
Characterization of the reconstructed 1918 Spanish influenza pandemic virus. Science (2005) 17.19
Cross-reactive antibody responses to the 2009 pandemic H1N1 influenza virus. N Engl J Med (2009) 15.02
Probable person-to-person transmission of avian influenza A (H5N1). N Engl J Med (2005) 14.59
Structural and functional bases for broad-spectrum neutralization of avian and human influenza A viruses. Nat Struct Mol Biol (2009) 12.13
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet (2010) 10.75
Prevention and control of influenza with vaccines: recommendations of the Advisory Committee on Immunization Practices (ACIP), 2010. MMWR Recomm Rep (2010) 10.59
The global circulation of seasonal influenza A (H3N2) viruses. Science (2008) 10.05
Transmission and pathogenesis of swine-origin 2009 A(H1N1) influenza viruses in ferrets and mice. Science (2009) 8.61
A two-amino acid change in the hemagglutinin of the 1918 influenza virus abolishes transmission. Science (2007) 8.38
Adamantane resistance among influenza A viruses isolated early during the 2005-2006 influenza season in the United States. JAMA (2006) 8.06
Avian influenza (H5N1) viruses isolated from humans in Asia in 2004 exhibit increased virulence in mammals. J Virol (2005) 7.88
Influenza-associated deaths among children in the United States, 2003-2004. N Engl J Med (2005) 6.83
Lack of transmission of H5N1 avian-human reassortant influenza viruses in a ferret model. Proc Natl Acad Sci U S A (2006) 6.35
A distinct lineage of influenza A virus from bats. Proc Natl Acad Sci U S A (2012) 6.27
Transmission of equine influenza virus to dogs. Science (2005) 6.11
SCAN: SNP and copy number annotation. Bioinformatics (2009) 5.96
Risk of influenza A (H5N1) infection among poultry workers, Hong Kong, 1997-1998. J Infect Dis (2002) 5.92
Prevention and control of seasonal influenza with vaccines: recommendations of the Advisory Committee on Immunization Practices (ACIP), 2009. MMWR Recomm Rep (2009) 5.80
Incidence of adamantane resistance among influenza A (H3N2) viruses isolated worldwide from 1994 to 2005: a cause for concern. Lancet (2005) 5.70
Prevention and control of influenza. Recommendations of the Advisory Committee on Immunization Practices (ACIP), 2007. MMWR Recomm Rep (2007) 5.32
Surveillance of resistance to adamantanes among influenza A(H3N2) and A(H1N1) viruses isolated worldwide. J Infect Dis (2007) 5.21
Prevention and Control of Influenza: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep (2006) 5.19
Prevention and control of influenza: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep (2004) 5.00
Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia. Nat Genet (2011) 4.93
A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci U S A (2007) 4.35
Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet (2011) 4.26
Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 4.15
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
Global concerns regarding novel influenza A (H7N9) virus infections. N Engl J Med (2013) 3.88
Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77
Prevention and control of influenza. Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep (2005) 3.50
Genetic architecture of transcript-level variation in humans. Am J Hum Genet (2008) 3.36
Prevention and control of influenza. Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep (2002) 3.27
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
In vitro evolution of H5N1 avian influenza virus toward human-type receptor specificity. Virology (2011) 3.19
Prevention and control of influenza. Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep (2003) 2.96
Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes (2007) 2.91
Serologic evidence of H1 swine Influenza virus infection in swine farm residents and employees. Emerg Infect Dis (2002) 2.75
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
Influenza vaccine strain selection and recent studies on the global migration of seasonal influenza viruses. Vaccine (2008) 2.56
Isolation and characterization of avian influenza viruses, including highly pathogenic H5N1, from poultry in live bird markets in Hanoi, Vietnam, in 2001. J Virol (2005) 2.51
Genetic analysis of human H2N2 and early H3N2 influenza viruses, 1957-1972: evidence for genetic divergence and multiple reassortment events. Virology (2004) 2.44
Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc Natl Acad Sci U S A (2010) 2.43
Genetic compatibility and virulence of reassortants derived from contemporary avian H5N1 and human H3N2 influenza A viruses. PLoS Pathog (2008) 2.38
Reassortment between avian H5N1 and human H3N2 influenza viruses in ferrets: a public health risk assessment. J Virol (2009) 2.33
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell (2013) 2.28
Effect of receptor binding domain mutations on receptor binding and transmissibility of avian influenza H5N1 viruses. Virology (2011) 2.28
Half- vs full-dose trivalent inactivated influenza vaccine (2004-2005): age, dose, and sex effects on immune responses. Arch Intern Med (2008) 2.24
Pause on avian flu transmission research. Science (2012) 2.24
Family clustering of avian influenza A (H5N1). Emerg Infect Dis (2005) 2.04
Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21. Am J Hum Genet (2004) 2.03
The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution. Blood (2009) 2.02
Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. Arch Gen Psychiatry (2006) 2.02
A statistical method for identification of polymorphisms that explain a linkage result. Am J Hum Genet (2002) 1.99
Prevention and control of seasonal influenza with vaccines: recommendations of the Advisory Committee on Immunization Practices (ACIP) -- United States, 2014-15 influenza season. MMWR Morb Mortal Wkly Rep (2014) 1.97
Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet (2008) 1.96
Evolution of highly pathogenic H5N1 avian influenza viruses in Vietnam between 2001 and 2007. PLoS One (2008) 1.91
Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Am J Hum Genet (2006) 1.89
Pathogenesis and transmission of swine origin A(H3N2)v influenza viruses in ferrets. Proc Natl Acad Sci U S A (2012) 1.80
Polygenic virulence factors involved in pathogenesis of 1997 Hong Kong H5N1 influenza viruses in mice. Virus Res (2007) 1.77
Experimental evaluation of the FluChip diagnostic microarray for influenza virus surveillance. J Clin Microbiol (2006) 1.76
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Antiviral resistance during the 2009 influenza A H1N1 pandemic: public health, laboratory, and clinical perspectives. Lancet Infect Dis (2011) 1.66
Cross-protective immunity in mice induced by live-attenuated or inactivated vaccines against highly pathogenic influenza A (H5N1) viruses. Vaccine (2006) 1.66
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes (2009) 1.65
Seasonal influenza vaccines. Curr Top Microbiol Immunol (2009) 1.63
Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet (2002) 1.61
Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set. PLoS Genet (2006) 1.58
GEL: a novel genotype calling algorithm using empirical likelihood. Bioinformatics (2006) 1.58
MChip: a tool for influenza surveillance. Anal Chem (2006) 1.57
Surveillance for influenza--United States, 1997-98, 1998-99, and 1999-00 seasons. MMWR Surveill Summ (2002) 1.57
Reappearance and global spread of variants of influenza B/Victoria/2/87 lineage viruses in the 2000-2001 and 2001-2002 seasons. Virology (2002) 1.57
Lack of evidence for human-to-human transmission of avian influenza A (H9N2) viruses in Hong Kong, China 1999. Emerg Infect Dis (2002) 1.54
On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. Am J Hum Genet (2012) 1.49
Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Clin Cancer Res (2011) 1.47
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol (2011) 1.47
Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial. J Natl Cancer Inst (2012) 1.46
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. PLoS Genet (2011) 1.46
New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Genet (2006) 1.46
The development of vaccine viruses against pandemic A(H1N1) influenza. Vaccine (2011) 1.44
Genome-wide interrogation of longitudinal FEV1 in children with asthma. Am J Respir Crit Care Med (2014) 1.44
Clinical drug response can be predicted using baseline gene expression levels and in vitro drug sensitivity in cell lines. Genome Biol (2014) 1.43
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
Cancer pharmacogenomics: strategies and challenges. Nat Rev Genet (2012) 1.41
So many questions, so little time. J Infect Dis (2012) 1.40
Genetic studies of stuttering in a founder population. J Fluency Disord (2006) 1.39
Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. Carcinogenesis (2012) 1.38
Genome-wide meta-analysis for severe diabetic retinopathy. Hum Mol Genet (2011) 1.36
Genetic architecture of microRNA expression: implications for the transcriptome and complex traits. Am J Hum Genet (2012) 1.36
Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping. Am J Hum Genet (2010) 1.35
Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands. Am J Med Genet (2002) 1.35
Population differences in microRNA expression and biological implications. RNA Biol (2011) 1.33
Improving influenza vaccine virus selection: report of a WHO informal consultation held at WHO headquarters, Geneva, Switzerland, 14-16 June 2010. Influenza Other Respir Viruses (2011) 1.32
Exprtarget: an integrative approach to predicting human microRNA targets. PLoS One (2010) 1.31
Receptor specificity of subtype H1 influenza A viruses isolated from swine and humans in the United States. Virology (2011) 1.31
Genome-wide association studies in pharmacogenomics: successes and lessons. Pharmacogenet Genomics (2013) 1.30