Published in Hum Genet on February 20, 2003
Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet (2007) 1.78
Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Hum Genet (2005) 1.47
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans. PLoS One (2008) 1.35
Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians. PLoS One (2012) 1.03
Analysis of 12 X-STRs in Greenlanders, Danes and Somalis using Argus X-12. Int J Legal Med (2011) 0.99
Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. Proc Natl Acad Sci U S A (2012) 0.96
Problematic use of Greenberg's linguistic classification of the Americas in studies of Native American genetic variation. Am J Hum Genet (2004) 0.94
Association of Y chromosome haplogroup I with HIV progression, and HAART outcome. Hum Genet (2009) 0.94
Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. Am J Phys Anthropol (2012) 0.93
The origin of the isolated population of the Faroe Islands investigated using Y chromosomal markers. Hum Genet (2004) 0.90
Uncovering the genetic history of the present-day Greenlandic population. Am J Hum Genet (2014) 0.87
The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers. Eur J Hum Genet (2014) 0.80
Y-STR loci diversity in native Alaskan populations. Int J Legal Med (2011) 0.76
Peopling of the North Circumpolar Region--insights from Y chromosome STR and SNP typing of Greenlanders. PLoS One (2015) 0.75
Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol (1999) 35.53
Y chromosome sequence variation and the history of human populations. Nat Genet (2000) 8.34
A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res (2002) 7.56
Genetic evidence for a higher female migration rate in humans. Nat Genet (1998) 5.77
mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. Am J Hum Genet (2000) 5.17
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet (2000) 4.72
A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history. Proc Natl Acad Sci U S A (1996) 4.52
Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet (1997) 3.78
The ancestry of Brazilian mtDNA lineages. Am J Hum Genet (2000) 3.46
Estimation of admixture proportions: a likelihood-based approach using Markov chain Monte Carlo. Genetics (2001) 3.45
Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol (2001) 3.04
Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. Am J Hum Genet (1999) 2.89
Origins of Old Testament priests. Nature (1998) 2.71
Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland. Am J Hum Genet (2000) 2.22
New uses for new haplotypes the human Y chromosome, disease and selection. Trends Genet (2000) 2.03
Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet (2000) 1.94
The phylogeography of Brazilian Y-chromosome lineages. Am J Hum Genet (2000) 1.89
European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. Am J Hum Genet (1998) 1.87
Y chromosomal evidence for the origins of oceanic-speaking peoples. Genetics (2002) 1.81
An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping. Ann Hum Genet (1999) 1.78
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet (2001) 1.70
The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet (2001) 1.65
Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. Mamm Genome (2000) 1.54
Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome. Am J Hum Genet (1999) 1.42
High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int (2002) 1.40
Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1. Hum Mol Genet (1999) 1.10
Y-chromosome variation in a Norwegian population sample. Forensic Sci Int (2001) 0.77
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
Global variation in copy number in the human genome. Nature (2006) 57.50
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
Large, rare chromosomal deletions associated with severe early-onset obesity. Nature (2009) 5.20
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet (2012) 5.16
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
A predominantly neolithic origin for European paternal lineages. PLoS Biol (2010) 4.39
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res (2010) 4.22
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
The genetic legacy of the Mongols. Am J Hum Genet (2003) 3.84
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
The population genetics of structural variation. Nat Genet (2007) 3.07
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet (2006) 2.80
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Absence of Yersinia pestis-specific DNA in human teeth from five European excavations of putative plague victims. Microbiology (2004) 2.75
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Characterization of genetic miscoding lesions caused by postmortem damage. Am J Hum Genet (2002) 2.61
Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet (2008) 2.58
Distribution patterns of postmortem damage in human mitochondrial DNA. Am J Hum Genet (2002) 2.46
Male demography in East Asia: a north-south contrast in human population expansion times. Genetics (2006) 2.30
The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages. Am J Hum Genet (2005) 2.27
The portability of tagSNPs across populations: a worldwide survey. Genome Res (2006) 1.99
A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet (2004) 1.97
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages. Mol Biol Evol (2009) 1.86
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Res (2013) 1.83
Y chromosomal evidence for the origins of oceanic-speaking peoples. Genetics (2002) 1.81
Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet (2007) 1.78
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet (2013) 1.72
Mitochondrial DNA of an Iberian Neandertal suggests a population affinity with other European Neandertals. Curr Biol (2006) 1.69
Founders, drift, and infidelity: the relationship between Y chromosome diversity and patrilineal surnames. Mol Biol Evol (2009) 1.68
DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods (2013) 1.65
The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet (2008) 1.64
Fast-evolving noncoding sequences in the human genome. Genome Biol (2007) 1.64
Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol (2008) 1.63
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. Circ Cardiovasc Genet (2012) 1.60
A highly divergent mtDNA sequence in a Neandertal individual from Italy. Curr Biol (2006) 1.59
Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet (2004) 1.55
On the origins and admixture of Malagasy: new evidence from high-resolution analyses of paternal and maternal lineages. Mol Biol Evol (2009) 1.54
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet (2005) 1.54
Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Hum Mutat (2014) 1.53
Sex-specific genetic structure and social organization in Central Asia: insights from a multi-locus study. PLoS Genet (2008) 1.53
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet (2012) 1.52
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. Am J Hum Genet (2008) 1.50
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet (2012) 1.50
Statistical power analysis of neutrality tests under demographic expansions, contractions and bottlenecks with recombination. Genetics (2008) 1.49
A natural history of FUT2 polymorphism in humans. Mol Biol Evol (2009) 1.49
Deciphering past human population movements in Oceania: provably optimal trees of 127 mtDNA genomes. Mol Biol Evol (2006) 1.49
Genetic comparison of the head of Henri IV and the presumptive blood from Louis XVI (both Kings of France). Forensic Sci Int (2012) 1.44
Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels. Genome Biol (2009) 1.43
Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol (2010) 1.43
Genetic basis of Y-linked hearing impairment. Am J Hum Genet (2013) 1.42
Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics (2013) 1.41
Neandertal evolutionary genetics: mitochondrial DNA data from the iberian peninsula. Mol Biol Evol (2005) 1.40
What's in a name? Y chromosomes, surnames and the genetic genealogy revolution. Trends Genet (2009) 1.40
Dynamics of a human interparalog gene conversion hotspot. Genome Res (2004) 1.40
High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int (2002) 1.40
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet (2003) 1.37
The analysis of variation of mtDNA hypervariable region 1 suggests that Eastern and Western Pygmies diverged before the Bantu expansion. Am Nat (2004) 1.37
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum Mol Genet (2006) 1.36
Excavating past population structures by surname-based sampling: the genetic legacy of the Vikings in northwest England. Mol Biol Evol (2007) 1.34
Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods (2006) 1.34
Genetic signatures of coancestry within surnames. Curr Biol (2006) 1.32
Phylogeography of the human mitochondrial L1c haplogroup: genetic signatures of the prehistory of Central Africa. Mol Phylogenet Evol (2006) 1.30
The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion. Forensic Sci Int (2005) 1.27
Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba. BMC Evol Biol (2008) 1.26
SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics (2008) 1.24
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum Mol Genet (2010) 1.21
Estimating the ancestral recombinations graph (ARG) as compatible networks of SNP patterns. J Comput Biol (2008) 1.21
Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet (2004) 1.19
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Archaeological, radiological, and biological evidence offer insight into Inca child sacrifice. Proc Natl Acad Sci U S A (2013) 1.16