Published in Am J Hum Genet on August 10, 2012
Great ape genetic diversity and population history. Nature (2013) 2.95
Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers. Cell (2012) 2.00
Genome flux and stasis in a five millennium transect of European prehistory. Nat Commun (2014) 1.90
Regions of homozygosity in the porcine genome: consequence of demography and the recombination landscape. PLoS Genet (2012) 1.63
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet (2015) 1.50
Population structure, migration, and diversifying selection in the Netherlands. Eur J Hum Genet (2013) 1.47
Long runs of homozygosity are enriched for deleterious variation. Am J Hum Genet (2013) 1.32
Upper Palaeolithic genomes reveal deep roots of modern Eurasians. Nat Commun (2015) 1.31
A quantitative comparison of the similarity between genes and geography in worldwide human populations. PLoS Genet (2012) 1.17
The relationship between F(ST) and the frequency of the most frequent allele. Genetics (2012) 1.15
Patterns of admixture and population structure in native populations of Northwest North America. PLoS Genet (2014) 1.05
Conservation genomic analysis of domestic and wild pig populations from the Iberian Peninsula. BMC Genet (2013) 1.03
Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding. Science (2015) 1.03
A genome-wide association study of prostate cancer in West African men. Hum Genet (2013) 1.02
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian J Med Res (2014) 1.00
Ancient gene flow from early modern humans into Eastern Neanderthals. Nature (2016) 1.00
De novo assembly of a haplotype-resolved human genome. Nat Biotechnol (2015) 0.98
Development and evaluation of the first high-throughput SNP array for common carp (Cyprinus carpio). BMC Genomics (2014) 0.97
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet (2016) 0.97
Estimating autozygosity from high-throughput information: effects of SNP density and genotyping errors. Genet Sel Evol (2013) 0.95
Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese. J Biomed Res (2013) 0.94
Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth. Curr Biol (2015) 0.93
Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome. Proc Natl Acad Sci U S A (2015) 0.91
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A (2013) 0.89
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics (2013) 0.87
The Demographic Development of the First Farmers in Anatolia. Curr Biol (2016) 0.86
Detecting inbreeding depression for reproductive traits in Iberian pigs using genome-wide data. Genet Sel Evol (2015) 0.85
Population-genetic influences on genomic estimates of the inbreeding coefficient: a global perspective. Hum Hered (2014) 0.84
Genomic diversity and differentiation of a managed island wild boar population. Heredity (Edinb) (2015) 0.84
Association between autozygosity and major depression: stratification due to religious assortment. Behav Genet (2013) 0.83
Genetic landscape of populations along the Silk Road: admixture and migration patterns. BMC Genet (2014) 0.82
Early Neolithic genomes from the eastern Fertile Crescent. Science (2016) 0.82
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab (2015) 0.81
Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model. PLoS One (2013) 0.81
Inferring Heterozygosity from Ancient and Low Coverage Genomes. Genetics (2016) 0.80
Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum Mol Genet (2015) 0.80
Extensive genome-wide autozygosity in the population isolates of Daghestan. Eur J Hum Genet (2015) 0.80
The influence of admixture and consanguinity on population genetic diversity in Middle East. J Hum Genet (2014) 0.79
Haplotype phasing after joint estimation of recombination and linkage disequilibrium in breeding populations. J Anim Sci Biotechnol (2013) 0.78
Reconstructing Druze population history. Sci Rep (2016) 0.77
Evidence of Inbreeding in Hodgkin Lymphoma. PLoS One (2016) 0.77
Genomics advances the study of inbreeding depression in the wild. Evol Appl (2016) 0.77
Excess of homozygosity in the major histocompatibility complex in schizophrenia. Hum Mol Genet (2014) 0.77
Genetic and socioeconomic study of mate choice in Latinos reveals novel assortment patterns. Proc Natl Acad Sci U S A (2015) 0.77
Runs of homozygosity and distribution of functional variants in the cattle genome. BMC Genomics (2015) 0.76
East Eurasian ancestry in the middle of Europe: genetic footprints of Steppe nomads in the genomes of Belarusian Lipka Tatars. Sci Rep (2016) 0.75
Overcoming the dichotomy between open and isolated populations using genomic data from a large European dataset. Sci Rep (2017) 0.75
Inferring Individual Inbreeding and Demographic History from Segments of Identity by Descent in Ficedula Flycatcher Genome Sequences. Genetics (2017) 0.75
Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID). BMC Genomics (2017) 0.75
Compression distance can discriminate animals by genetic profile, build relationship matrices and estimate breeding values. Genet Sel Evol (2015) 0.75
Inbreeding and homozygosity in breast cancer survival. Sci Rep (2015) 0.75
Runs of homozygosity and inbreeding in thyroid cancer. BMC Cancer (2016) 0.75
Integrating the signatures of demic expansion and archaic introgression in studies of human population genomics. Curr Opin Genet Dev (2016) 0.75
Reply to ten Kate et al. Eur J Hum Genet (2013) 0.75
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. J Hum Genet (2016) 0.75
Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs. Genet Sel Evol (2015) 0.75
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med (2014) 0.75
Characterization and management of long runs of homozygosity in parental nucleus lines and their associated crossbred progeny. Genet Sel Evol (2016) 0.75
A Monte Carlo permutation test for random mating using genome sequences. PLoS One (2013) 0.75
The role of climate and out-of-Africa migration in the frequencies of risk alleles for 21 human diseases. BMC Genet (2015) 0.75
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med (2017) 0.75
Mathematical Constraints on FST: Biallelic Markers in Arbitrarily Many Populations. Genetics (2017) 0.75
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways. PLoS One (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Global variation in copy number in the human genome. Nature (2006) 57.50
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Identification of hundreds of conserved and nonconserved human microRNAs. Nat Genet (2005) 15.96
A human genome diversity cell line panel. Science (2002) 14.11
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (2003) 13.60
Positive natural selection in the human lineage. Science (2006) 12.55
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet (1999) 10.94
Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci U S A (2005) 10.22
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet (2007) 8.79
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet (2006) 8.46
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet (2005) 6.73
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet (2006) 5.42
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Localizing recent adaptive evolution in the human genome. PLoS Genet (2007) 5.11
Geography predicts neutral genetic diversity of human populations. Curr Biol (2005) 4.74
Extended tracts of homozygosity in outbred human populations. Hum Mol Genet (2006) 4.53
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans. Cell (2007) 3.72
A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol (2007) 3.71
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52
The role of geography in human adaptation. PLoS Genet (2009) 3.41
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci U S A (2007) 2.81
The genome-wide patterns of variation expose significant substructure in a founder population. Am J Hum Genet (2008) 2.79
Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res (2009) 2.76
Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A (2009) 2.47
Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet (2006) 2.26
Genomic runs of homozygosity record population history and consanguinity. PLoS One (2010) 2.22
Inference of unexpected genetic relatedness among individuals in HapMap Phase III. Am J Hum Genet (2010) 2.16
Long contiguous stretches of homozygosity in the human genome. Hum Mutat (2006) 2.07
Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet (2006) 2.02
Population genetic structure of the people of Qatar. Am J Hum Genet (2010) 1.91
New perspectives for the elucidation of genetic disorders. Am J Hum Genet (2007) 1.89
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet (1996) 1.81
Molecular evolution of a primate-specific microRNA family. Mol Biol Evol (2008) 1.63
Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations. Ann Hum Genet (2008) 1.61
Understanding relationship between sequence and functional evolution in yeast proteins. Genetica (2006) 1.60
Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples. PLoS One (2012) 1.55
Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol (2010) 1.48
Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet (2009) 1.46
Population structure and genome-wide patterns of variation in Ireland and Britain. Eur J Hum Genet (2010) 1.39
Directional positive selection on an allele of arbitrary dominance. Genetics (2005) 1.31
Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans. Hum Mol Genet (2010) 1.28
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci (2011) 1.18
Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet (1998) 1.17
Haplotype variation and genotype imputation in African populations. Genet Epidemiol (2011) 1.10
Genome-wide autozygosity mapping in human populations. Genet Epidemiol (2009) 1.07
The genetic structure of the Swedish population. PLoS One (2011) 1.05
Genomic and genealogical investigation of the French Canadian founder population structure. Hum Genet (2011) 1.00
Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet (2011) 0.99
Homozygosity mapping in outbred families with mental retardation. Eur J Hum Genet (2011) 0.95
Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays. BMC Genet (2011) 0.91
Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients. PLoS One (2011) 0.84
A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals. J Hum Genet (2011) 0.81
Regions of homozygosity in three Southeast Asian populations. J Hum Genet (2011) 0.79
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Genome-wide mapping of in vivo protein-DNA interactions. Science (2007) 64.92
Model-based analysis of ChIP-Seq (MACS). Genome Biol (2008) 51.63
Genetic structure of human populations. Science (2002) 30.91
Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data. Nucleic Acids Res (2005) 17.58
CLUMPP: a cluster matching and permutation program for dealing with label switching and multimodality in analysis of population structure. Bioinformatics (2007) 16.52
A human genome diversity cell line panel. Science (2002) 14.11
An integrated software system for analyzing ChIP-chip and ChIP-seq data. Nat Biotechnol (2008) 13.96
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Genome-wide analysis of transcription factor binding sites based on ChIP-Seq data. Nat Methods (2008) 11.61
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles. Science (2005) 10.46
Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci U S A (2005) 10.22
The pattern of polymorphism in Arabidopsis thaliana. PLoS Biol (2005) 10.13
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. Genome Res (2012) 9.13
Local dispersal promotes biodiversity in a real-life game of rock-paper-scissors. Nature (2002) 9.07
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet (2006) 8.46
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Evolutionary rate in the protein interaction network. Science (2002) 7.75
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
The application of molecular genetic approaches to the study of human evolution. Nat Genet (2003) 7.44
Sequence census methods for functional genomics. Nat Methods (2007) 7.38
Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet (2009) 7.28
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet (2005) 6.73
Identification and functional analysis of human transcriptional promoters. Genome Res (2003) 6.23
An abundance of bidirectional promoters in the human genome. Genome Res (2004) 5.90
Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a Pitx1 enhancer. Science (2009) 5.64
The genomic basis of adaptive evolution in threespine sticklebacks. Nature (2012) 5.20
Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers. Am J Hum Genet (2003) 5.14
Stable association between strains of Mycobacterium tuberculosis and their human host populations. Proc Natl Acad Sci U S A (2004) 4.98
Gene tree discordance, phylogenetic inference and the multispecies coalescent. Trends Ecol Evol (2009) 4.91
Genetic variation and population structure in native Americans. PLoS Genet (2007) 4.87
A validated regulatory network for Th17 cell specification. Cell (2012) 4.82
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors. Genome Res (2012) 4.80
Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet (2002) 4.76
High functional diversity in Mycobacterium tuberculosis driven by genetic drift and human demography. PLoS Biol (2008) 4.74
Coding potential of laboratory and clinical strains of human cytomegalovirus. Proc Natl Acad Sci U S A (2003) 4.37
The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet (2003) 4.34
A high-resolution human contact network for infectious disease transmission. Proc Natl Acad Sci U S A (2010) 4.34
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res (2007) 4.33
Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver. Genome Res (2009) 4.11
Systematic evaluation of variability in ChIP-chip experiments using predefined DNA targets. Genome Res (2008) 4.08
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet (2008) 4.02
Comprehensive analysis of transcriptional promoter structure and function in 1% of the human genome. Genome Res (2005) 3.85
An exact nonparametric method for inferring mosaic structure in sequence triplets. Genetics (2007) 3.76
Direct isolation and identification of promoters in the human genome. Genome Res (2005) 3.68
Dynamic DNA methylation across diverse human cell lines and tissues. Genome Res (2013) 3.61
Discordance of species trees with their most likely gene trees. PLoS Genet (2006) 3.58
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc Natl Acad Sci U S A (2011) 3.53
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A (2009) 3.49
Decade-long bacterial community dynamics in cystic fibrosis airways. Proc Natl Acad Sci U S A (2012) 3.43
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Genomic determination of the glucocorticoid response reveals unexpected mechanisms of gene regulation. Genome Res (2009) 3.30
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Comparative genomics modeling of the NRSF/REST repressor network: from single conserved sites to genome-wide repertoire. Genome Res (2006) 3.23
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet (2010) 3.15
ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics (2008) 3.06
Functional genomic analysis of the rates of protein evolution. Proc Natl Acad Sci U S A (2005) 3.04
Diverse and specific gene expression responses to stresses in cultured human cells. Mol Biol Cell (2004) 3.02
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
The master sex-determination locus in threespine sticklebacks is on a nascent Y chromosome. Curr Biol (2004) 2.90
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
High throughput sequencing reveals a complex pattern of dynamic interrelationships among human T cell subsets. Proc Natl Acad Sci U S A (2010) 2.74
Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Am J Hum Genet (2005) 2.71
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
The role of heat shock transcription factor 1 in the genome-wide regulation of the mammalian heat shock response. Mol Biol Cell (2003) 2.56
Effect of agonal and postmortem factors on gene expression profile: quality control in microarray analyses of postmortem human brain. Biol Psychiatry (2004) 2.53
Widespread plasticity in CTCF occupancy linked to DNA methylation. Genome Res (2012) 2.45
Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. PLoS Genet (2011) 2.41
Transcription factor binding and modified histones in human bidirectional promoters. Genome Res (2007) 2.40
Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions. Hum Mol Genet (2004) 2.33
Systematic evaluation of factors influencing ChIP-seq fidelity. Nat Methods (2012) 2.31
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res (2010) 2.31
Selective disruption of lysosomes in HeLa cells triggers apoptosis mediated by cleavage of Bid by multiple papain-like lysosomal cathepsins. J Biol Chem (2003) 2.30
The DNA sequence and biology of human chromosome 19. Nature (2004) 2.29
Quality assessment of the human genome sequence. Nature (2004) 2.29
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature (2005) 2.27
Large-scale reconstruction and phylogenetic analysis of metabolic environments. Proc Natl Acad Sci U S A (2008) 2.23