Published in Nat Genet on March 01, 2003
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Mapping determinants of human gene expression by regional and genome-wide association. Nature (2005) 17.24
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet (2004) 13.71
Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44
Interactome networks and human disease. Cell (2011) 7.16
Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet (2008) 7.03
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res (2005) 5.62
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Network-based global inference of human disease genes. Mol Syst Biol (2008) 5.01
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites. Am J Hum Genet (2004) 4.76
Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry (2009) 4.74
Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet (2011) 4.67
Validating, augmenting and refining genome-wide association signals. Nat Rev Genet (2009) 4.56
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet (2005) 4.21
Nanopore sensors for nucleic acid analysis. Nat Nanotechnol (2011) 4.19
Edgetic perturbation models of human inherited disorders. Mol Syst Biol (2009) 3.96
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet (2008) 3.92
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91
Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet (2005) 3.76
Inference on haplotype effects in case-control studies using unphased genotype data. Am J Hum Genet (2003) 3.74
Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am J Hum Genet (2005) 3.62
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol (2006) 3.60
Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genet (2007) 3.29
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res (2006) 3.04
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03
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
Interpreting noncoding genetic variation in complex traits and human disease. Nat Biotechnol (2012) 3.01
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic Acids Res (2004) 2.86
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. BMC Med Genet (2008) 2.63
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
An SNP resource for rice genetics and breeding based on subspecies indica and japonica genome alignments. Genome Res (2004) 2.56
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
Integration of text- and data-mining using ontologies successfully selects disease gene candidates. Nucleic Acids Res (2005) 2.46
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet (2012) 2.30
The QTN program and the alleles that matter for evolution: all that's gold does not glitter. Evolution (2011) 2.23
Clinical characteristics in early Parkinson's disease in a central California population-based study. Mov Disord (2005) 2.19
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol (2011) 2.09
Natural variation in Arabidopsis: from molecular genetics to ecological genomics. Plant Physiol (2011) 2.06
Widespread purifying selection at polymorphic sites in human protein-coding loci. Proc Natl Acad Sci U S A (2003) 2.01
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biol (2010) 2.00
Complex genetic interactions in a quantitative trait locus. PLoS Genet (2006) 1.95
The promise of whole-exome sequencing in medical genetics. J Hum Genet (2013) 1.95
National study of colorectal cancer genetics. Br J Cancer (2007) 1.92
Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine. CA Cancer J Clin (2011) 1.90
Identification of four gene variants associated with myocardial infarction. Am J Hum Genet (2005) 1.89
zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics (2012) 1.87
Gene regulation in primates evolves under tissue-specific selection pressures. PLoS Genet (2008) 1.86
Personalized medicine: new genomics, old lessons. Hum Genet (2011) 1.85
Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol (2008) 1.81
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
Sequential elimination of major-effect contributors identifies additional quantitative trait loci conditioning high-temperature growth in yeast. Genetics (2008) 1.68
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet (2008) 1.65
Sequencing multiple and diverse rice varieties. Connecting whole-genome variation with phenotypes. Plant Physiol (2006) 1.61
Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations. Cogn Neuropsychiatry (2009) 1.60
A pathway-based view of human diseases and disease relationships. PLoS One (2009) 1.52
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS One (2011) 1.51
Using bioinformatics to predict the functional impact of SNVs. Bioinformatics (2010) 1.49
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet (2012) 1.47
Genome-wide association studies: progress and potential for drug discovery and development. Nat Rev Drug Discov (2008) 1.45
Association of the DTNBP1 locus with schizophrenia in a U.S. population. Am J Hum Genet (2004) 1.45
Identification of low penetrance alleles for lung cancer: the GEnetic Lung CAncer Predisposition Study (GELCAPS). BMC Cancer (2008) 1.42
Variation resources at UC Santa Cruz. Nucleic Acids Res (2006) 1.42
Nucleotide diversity and linkage disequilibrium in cold-hardiness- and wood quality-related candidate genes in Douglas fir. Genetics (2005) 1.41
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Genetic epidemiological approaches in the study of risk factors for cardiovascular disease. Eur J Epidemiol (2004) 1.40
IL-13 R130Q, a common variant associated with allergy and asthma, enhances effector mechanisms essential for human allergic inflammation. J Clin Invest (2005) 1.40
Privacy in the Genomic Era. ACM Comput Surv (2015) 1.40
Genetic studies of stuttering in a founder population. J Fluency Disord (2006) 1.39
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut (2012) 1.39
Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. Trends Genet (2011) 1.38
Evaluating empirical bounds on complex disease genetic architecture. Nat Genet (2013) 1.37
Increasing power in association studies by using linkage disequilibrium structure and molecular function as prior information. Genome Res (2008) 1.37
The role of large pedigrees in an era of high-throughput sequencing. Hum Genet (2012) 1.37
The role and challenges of exome sequencing in studies of human diseases. Front Genet (2013) 1.33
Uncover disease genes by maximizing information flow in the phenome-interactome network. Bioinformatics (2011) 1.32
The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med (2003) 7.94
Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry (2011) 6.98
Admixture mapping for hypertension loci with genome-scan markers. Nat Genet (2005) 6.78
Reconstructing genetic ancestry blocks in admixed individuals. Am J Hum Genet (2006) 5.92
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science (2003) 4.48
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med (2006) 3.90
A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet (2002) 3.52
Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research. Am J Public Health (2005) 3.50
Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet (2004) 3.47
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
Population stratification confounds genetic association studies among Latinos. Hum Genet (2005) 3.19
Homozygosity and linkage disequilibrium. Genetics (2002) 3.04
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Genomic priorities and public health. Science (2003) 2.69
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics (2011) 2.31
Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum Mol Genet (2005) 2.26
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
Will the genomics revolution revolutionize psychiatry? Am J Psychiatry (2003) 2.11
Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by race. Hepatology (2006) 2.03
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans. Hum Genet (2006) 1.98
Estimating kinship in admixed populations. Am J Hum Genet (2012) 1.95
Admixture mapping and the role of population structure for localizing disease genes. Adv Genet (2008) 1.76
Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient. Am J Med Genet (2002) 1.71
Common variants in P2RY11 are associated with narcolepsy. Nat Genet (2010) 1.65
Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups. Nat Genet (2004) 1.62
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet A (2007) 1.61
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet A (2004) 1.59
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
History shaped the geographic distribution of genomic admixture on the island of Puerto Rico. PLoS One (2011) 1.50
Ethnicity and human genetic linkage maps. Am J Hum Genet (2004) 1.50
A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate. Am J Hum Genet (2002) 1.46
On the twin risk in autism. Am J Hum Genet (2002) 1.40
Dropped genetics paper lacked scientific merit. Nature (2002) 1.39
Human genetic variation recognizes functional elements in noncoding sequence. Genome Res (2009) 1.33
The epilepsy phenome/genome project. Clin Trials (2013) 1.32
Functional genomics of membrane transporters in human populations. Genome Res (2005) 1.27
Differences in albuminuria between Hispanics and whites: an evaluation by genetic ancestry and country of origin: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Genet (2010) 1.23
Dissecting racial and ethnic differences. N Engl J Med (2006) 1.19
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet (2004) 1.17
Admixture mapping of quantitative trait loci for BMI in African Americans: evidence for loci on chromosomes 3q, 5q, and 15q. Obesity (Silver Spring) (2009) 1.12
A meta-analysis of genome-wide linkage scans for hypertension: the National Heart, Lung and Blood Institute Family Blood Pressure Program. Am J Hypertens (2003) 1.07
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. Atherosclerosis (2007) 1.01
Genome-wide distribution of ancestry in Mexican Americans. Hum Genet (2008) 0.96
An extended genome scan in 442 Canadian multiple sclerosis-affected sibships: a report from the Canadian Collaborative Study Group. Hum Mol Genet (2004) 0.96
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease. Hum Genet (2008) 0.93
A genome scan for hypertension susceptibility loci in populations of Chinese and Japanese origins. Am J Hypertens (2003) 0.91
Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet (2002) 0.90
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD. BMC Med Genet (2008) 0.89
The Association of African Ancestry and elevated creatinine in the Coronary Artery Risk Development in Young Adults (CARDIA) Study. Am J Nephrol (2009) 0.86
Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. Am J Med Genet B Neuropsychiatr Genet (2004) 0.85
Response to Zhang et al. (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 45, 11-16. Neuron (2005) 0.84
Genome-wide linkage analysis of lipids in nondiabetic Chinese and Japanese from the SAPPHIRe family study. Am J Hypertens (2006) 0.82
African American race but not genome-wide ancestry is negatively associated with atrial fibrillation among postmenopausal women in the Women's Health Initiative. Am Heart J (2013) 0.81
Haplotype structure and ethnic-specific allele frequencies at the OCTN locus: implications for the genetics of Crohn's disease. Inflamm Bowel Dis (2005) 0.81
Twins of mistaken zygosity (TOMZ): evidence for genetic contributions to dietary patterns and physiologic traits. Twin Res Hum Genet (2006) 0.76
Charles Joseph Epstein, M.D., 1933–2011, in memoriam. Am J Hum Genet (2011) 0.75
The whole side of it--an interview with Neil Risch by Jane Gitschier. PLoS Genet (2005) 0.75
The whole side of it--an interview with Neil Risch. Interview by Jane Gitschier. PLoS Genet (2005) 0.75