Published in Genet Med on March 07, 2002
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genetic mapping in human disease. Science (2008) 15.12
Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet (2008) 13.26
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med (2006) 7.75
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet (2007) 6.99
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet (2005) 6.61
The future of association studies: gene-based analysis and replication. Am J Hum Genet (2004) 5.44
Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol (2008) 4.53
Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls. Hum Genet (2007) 3.92
Generalized genomic distance-based regression methodology for multilocus association analysis. Am J Hum Genet (2006) 3.79
Meta-analysis in genome-wide association studies. Pharmacogenomics (2009) 3.39
Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci U S A (2004) 3.03
Darwinian and demographic forces affecting human protein coding genes. Genome Res (2009) 3.01
Failure to replicate a genetic association may provide important clues about genetic architecture. PLoS One (2009) 2.72
Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet (2008) 2.68
Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PLoS One (2008) 2.67
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Machine learning for detecting gene-gene interactions: a review. Appl Bioinformatics (2006) 2.56
Natural selection on genes that underlie human disease susceptibility. Curr Biol (2008) 2.49
Designing candidate gene and genome-wide case-control association studies. Nat Protoc (2007) 2.42
Most published research findings are false-but a little replication goes a long way. PLoS Med (2007) 2.26
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. BMC Med Genet (2007) 2.25
Genetic research and health disparities. JAMA (2004) 2.24
Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics. Pharmacogenomics (2009) 2.23
Geography is a better determinant of human genetic differentiation than ethnicity. Hum Genet (2005) 2.20
Estimating odds ratios in genome scans: an approximate conditional likelihood approach. Am J Hum Genet (2008) 2.12
Most reported genetic associations with general intelligence are probably false positives. Psychol Sci (2012) 2.10
Genetic basis for adverse events after smallpox vaccination. J Infect Dis (2008) 2.09
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol (2005) 2.08
Genome-wide quantitative trait locus association scan of general cognitive ability using pooled DNA and 500K single nucleotide polymorphism microarrays. Genes Brain Behav (2008) 2.08
Theoretical models of selection and mutation on quantitative traits. Philos Trans R Soc Lond B Biol Sci (2005) 2.00
Genetics of acquired long QT syndrome. J Clin Invest (2005) 1.96
Pharmacogenomics: challenges and opportunities. Ann Intern Med (2006) 1.96
Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Proc Natl Acad Sci U S A (2004) 1.95
Complex genetic interactions in a quantitative trait locus. PLoS Genet (2006) 1.95
An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of model validation. BMC Bioinformatics (2004) 1.95
Flexible design for following up positive findings. Am J Hum Genet (2007) 1.94
Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes. J Med Genet (2004) 1.94
Capturing the spectrum of interaction effects in genetic association studies by simulated evaporative cooling network analysis. PLoS Genet (2009) 1.91
Evaluation of published single nucleotide polymorphisms associated with acute GVHD. Blood (2012) 1.88
Association genetics in Pinus taeda L. I. Wood property traits. Genetics (2006) 1.85
Required sample size and nonreplicability thresholds for heterogeneous genetic associations. Proc Natl Acad Sci U S A (2008) 1.84
The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med (2009) 1.83
Contextual sensitivity in scientific reproducibility. Proc Natl Acad Sci U S A (2016) 1.83
Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study. J Hypertens (2011) 1.81
Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies. Eur J Hum Genet (2010) 1.79
Spatially uniform relieff (SURF) for computationally-efficient filtering of gene-gene interactions. BioData Min (2009) 1.75
Direct molecular haplotyping of long-range genomic DNA with M1-PCR. Proc Natl Acad Sci U S A (2003) 1.74
Genome-wide association studies and beyond. Annu Rev Public Health (2010) 1.73
An update on the genetics of atopic dermatitis: scratching the surface in 2009. J Allergy Clin Immunol (2010) 1.73
The use of racial, ethnic, and ancestral categories in human genetics research. Am J Hum Genet (2005) 1.73
Genetic susceptibility loci for breast cancer by estrogen receptor status. Clin Cancer Res (2008) 1.72
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Hum Mol Genet (2009) 1.71
The complex genetics of multiple sclerosis: pitfalls and prospects. Brain (2008) 1.68
Metaanalysis of methylenetetrahydrofolate reductase (MTHFR) polymorphisms affecting methotrexate toxicity. J Rheumatol (2009) 1.64
Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia (2008) 1.61
Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proc Natl Acad Sci U S A (2003) 1.60
Genome-wide association studies: a new window into immune-mediated diseases. Nat Rev Immunol (2008) 1.59
Lack of support for the association between GAD2 polymorphisms and severe human obesity. PLoS Biol (2005) 1.59
The search for genes contributing to endometriosis risk. Hum Reprod Update (2008) 1.58
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron (2010) 1.57
Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better? Lancet Infect Dis (2006) 1.56
Tracking replicability as a method of post-publication open evaluation. Front Comput Neurosci (2012) 1.56
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. Hum Mol Genet (2010) 1.53
Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Am J Epidemiol (2008) 1.53
CYP2D6 inhibition and breast cancer recurrence in a population-based study in Denmark. J Natl Cancer Inst (2011) 1.47
Evolving hard problems: Generating human genetics datasets with a complex etiology. BioData Min (2011) 1.47
Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic. PLoS One (2014) 1.47
Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov (2008) 1.45
Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. Blood (2008) 1.45
Progress in genetic studies of pain and analgesia. Annu Rev Pharmacol Toxicol (2009) 1.43
Reappraisal of known malaria resistance loci in a large multicenter study. Nat Genet (2014) 1.39
Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis (2011) 1.39
Genes mediate the association between P3 amplitude and externalizing disorders. Psychophysiology (2007) 1.37
From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. Drug Metab Rev (2008) 1.35
FTO gene polymorphisms and obesity risk: a meta-analysis. BMC Med (2011) 1.34
FAM-MDR: a flexible family-based multifactor dimensionality reduction technique to detect epistasis using related individuals. PLoS One (2010) 1.34
Genomics of type 2 diabetes mellitus: implications for the clinician. Nat Rev Endocrinol (2009) 1.34
SNP interaction detection with Random Forests in high-dimensional genetic data. BMC Bioinformatics (2012) 1.32
Comprehensive testing of positionally cloned asthma genes in two populations. Am J Respir Crit Care Med (2007) 1.32
Sample size and statistical power calculation in genetic association studies. Genomics Inform (2012) 1.31
The genetic architecture of the behavioral ontogeny of foraging in honeybee workers. Genetics (2004) 1.30
Association genetics of wood physical traits in the conifer white spruce and relationships with gene expression. Genetics (2011) 1.30
Variants associated with common disease are not unusually differentiated in frequency across populations. Am J Hum Genet (2005) 1.28
Functional genomics of membrane transporters in human populations. Genome Res (2005) 1.27
Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clin Gastroenterol Hepatol (2007) 1.26
Child development and molecular genetics: 14 years later. Child Dev (2012) 1.23
Association analysis of the LTA4H gene polymorphisms and pulmonary tuberculosis in 9115 subjects. Tuberculosis (Edinb) (2010) 1.22
A complete classification of epistatic two-locus models. BMC Genet (2008) 1.22
Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci (2011) 1.22
Polycyclic aromatic hydrocarbon-DNA adducts and breast cancer: a pooled analysis. Arch Environ Health (2004) 1.21
The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am (2010) 1.21
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations. Am J Hum Genet (2007) 1.20
Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med (2005) 1.98
The etiology of Wolf-Hirschhorn syndrome. Trends Genet (2005) 1.85
Immunotherapy of ocular myasthenia gravis reduces conversion to generalized myasthenia gravis. J Neuroophthalmol (2003) 1.65
De minimis risk: a proposal for a new category of research risk. Am J Bioeth (2011) 1.65
Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci (2009) 1.44
Pesticide testing in humans: ethics and public policy. Environ Health Perspect (2004) 1.35
The interface between metabolic and stress signalling. Ann Bot (2009) 1.32
Novel therapies for Duchenne muscular dystrophy. Lancet Neurol (2003) 1.10
The physician scientist: an endangered breed? Intern Med J (2004) 1.02
First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril (2002) 1.00
Meningoencephalomyelitis with vasculitis due to varicella zoster virus: a case report and review of the literature. Pathology (2002) 0.94
Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum. Am J Med Genet (2002) 0.91
Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet (2002) 0.87
A history of medical genetics in pediatrics. Pediatr Res (2004) 0.80
XYY men: are they criminally aggressive? Sciences (New York) (1977) 0.79
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome. Am J Med Genet A (2008) 0.79
Chronic kidney disease and GWAS: "the proper study of mankind is man". Cell Metab (2010) 0.79
The effect of leukaemia inhibitory factor on SOD1 G93A murine amyotrophic lateral sclerosis. Cytokine (2003) 0.77
Pathoetiology of motor neuron disease: new insights from genetics and animal models. J Clin Neurosci (2003) 0.77
DNA electroporation in vivo targets mature fibres in dystrophic mdx muscle. Neuromuscul Disord (2005) 0.76
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? Genet Med (2012) 0.76
Randomized, comparative study of interferon beta-1a treatment regimens in MS: the EVIDENCE trial. Neurology (2003) 0.75
Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features. Int Rev Neurobiol (2002) 0.75
Genes, race, ethnicity, and environment. Mt Sinai J Med (2010) 0.75
Duchenne muscular dystrophy: hopes for the sesquicentenary. Med J Aust (2003) 0.75
Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay. Am J Med Genet (2002) 0.75
Clinical research in the United Kingdom: a new era. Med J Aust (2009) 0.75
Characterization of constitutional chromosome abnormalities by comparative genomic hybridization. Methods Mol Biol (2002) 0.75