Published in Hum Mutat on October 01, 2008
The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update (2010) 1.24
The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades. Mol Biol Evol (2014) 1.11
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci Int Genet (2014) 1.11
Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med (2011) 0.92
Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. Eur J Hum Genet (2012) 0.90
Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Int J Legal Med (2008) 0.89
Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. J Assist Reprod Genet (2010) 0.89
Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses. Int J Legal Med (2012) 0.82
Population genetics of 23 Y-STR loci in the Mongolian minority population in Inner Mongolia of China. Int J Legal Med (2016) 0.82
Cytogenetic abnormalities and Y-chromosome microdeletions in infertile Syrian males. Biomed Rep (2012) 0.81
Y chromosome palindromes and gene conversion. Hum Genet (2017) 0.80
Phylogenetic and forensic studies of the Bangladeshi population using next-generation PowerPlex® Y23 STR marker system. Int J Legal Med (2016) 0.80
Spermatogenic failure and the Y chromosome. Hum Genet (2017) 0.79
Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis. Mutat Res (2008) 0.78
Copy number variation in the human Y chromosome in the UK population. Hum Genet (2015) 0.77
Comments on the article, "Software for Y haplogroup predictions, a word of caution". Int J Legal Med (2010) 0.76
Chemotherapy induced microsatellite instability and loss of heterozygosity in chromosomes 2, 5, 10, and 17 in solid tumor patients. Cancer Cell Int (2014) 0.76
Analysis of genetic admixture in Uyghur using the 26 Y-STR loci system. Sci Rep (2016) 0.75
Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome. Int J Legal Med (2015) 0.75
Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol (1999) 35.53
A human genome diversity cell line panel. Science (2002) 14.11
Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A (2002) 13.58
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature (2003) 12.44
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
The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet (2003) 6.73
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet (1995) 5.02
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies. Am J Phys Anthropol (2005) 4.48
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature (2003) 4.31
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet (2001) 4.24
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet (2003) 3.97
The genetic legacy of the Mongols. Am J Hum Genet (2003) 3.84
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet (1996) 3.78
High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet (2006) 3.46
Y-chromosomal DNA variation in Pakistan. Am J Hum Genet (2002) 3.35
The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science (1992) 3.09
Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet (2007) 3.00
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
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int (2006) 2.22
A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet (2004) 1.97
Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet (2007) 1.78
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet (1996) 1.68
Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int (2002) 1.64
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet (2003) 1.62
A physical map of the human Y chromosome. Nature (2001) 1.58
A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int (2002) 1.50
Mutation rates at Y chromosome specific microsatellites. Hum Mutat (2005) 1.48
Recent spread of a Y-chromosomal lineage in northern China and Mongolia. Am J Hum Genet (2005) 1.46
Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns. Ann Hum Genet (2006) 1.44
Sex reversal: deletion mapping the male-determining function of the human Y chromosome. Cold Spring Harb Symp Quant Biol (1986) 1.43
Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res (1986) 1.40
Dynamics of a human interparalog gene conversion hotspot. Genome Res (2004) 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
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum Mol Genet (2006) 1.36
Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry. Nucleic Acids Res (2002) 1.34
Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod (2004) 1.24
A genetic basis for anomalous band patterns encountered during DNA STR profiling. J Forensic Sci (2004) 1.22
Cultural transmission of fitness: genes take the fast lane. Trends Genet (2005) 1.18
Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet (1998) 1.16
Putative biological functions of the DAZ family. Int J Androl (2004) 1.16
26-Locus Y-STR typing in a Bhutanese population sample. Forensic Sci Int (2005) 1.13
Diversity of 26-locus Y-STR haplotypes in a Nepalese population sample: isolation and drift in the Himalayas. Forensic Sci Int (2006) 1.05
Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa. Hum Genet (1986) 0.96
Y chromosome variants and male reproductive function. Int J Androl (2006) 0.90
Y-chromosomal STR haplotypes in Kalmyk population samples. Forensic Sci Int (2007) 0.88
The clinical significance of pericentric inversion of the human Y chromosome: a rare "third" type of heteromorphism. J Hered (1982) 0.86
Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci Int (2003) 0.80
Inadvertent diagnosis of male infertility through genealogical DNA testing. J Med Genet (2005) 0.77
U.S. population data for the multi-copy Y-STR locus DYS464. J Forensic Sci (2005) 0.77
Global variation in copy number in the human genome. Nature (2006) 57.50
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
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
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet (2003) 6.73
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol (2009) 5.70
Global diversity in the human salivary microbiome. Genome Res (2009) 5.16
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet (2012) 5.16
An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
IFITM3 restricts the morbidity and mortality associated with influenza. Nature (2012) 4.66
The role of selection in the evolution of human mitochondrial genomes. Genetics (2005) 4.56
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
A predominantly neolithic origin for European paternal lineages. PLoS Biol (2010) 4.39
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
The genetic legacy of the Mongols. Am J Hum Genet (2003) 3.84
A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol (2007) 3.71
Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A (2006) 3.68
Geographic patterns of (genetic, morphologic, linguistic) variation: how barriers can be detected by using Monmonier's algorithm. Hum Biol (2004) 3.61
The dawn of human matrilineal diversity. Am J Hum Genet (2008) 3.60
Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. Am J Hum Genet (2011) 3.53
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
Y-chromosomal DNA variation in Pakistan. Am J Hum Genet (2002) 3.35
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet (2012) 3.30
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet (2004) 3.05
Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet (2007) 3.00
Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J Hum Genet (2006) 3.00
Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol Biol Evol (2006) 2.98
Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes. Am J Hum Genet (2010) 2.98
Publication of population data of linearly inherited DNA markers in the International Journal of Legal Medicine. Int J Legal Med (2010) 2.97
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet (2009) 2.67
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am J Hum Genet (2009) 2.62
Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet (2008) 2.58
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet (2010) 2.45
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol (2010) 2.42
Mitochondrial DNA and human evolution. Annu Rev Genomics Hum Genet (2005) 2.36
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
A genome scan to detect candidate regions influenced by local natural selection in human populations. Mol Biol Evol (2003) 2.30
Mannose binding lectin gene polymorphisms confer a major risk for severe infections after liver transplantation. Gastroenterology (2005) 2.30
Male demography in East Asia: a north-south contrast in human population expansion times. Genetics (2006) 2.30
Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics. Annu Rev Immunol (2011) 2.29
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
A genetic landscape reshaped by recent events: Y-chromosomal insights into central Asia. Am J Hum Genet (2002) 2.21
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci (2010) 2.20
Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet (2005) 2.19
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Am J Hum Genet (2006) 2.18
Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study. J Am Coll Cardiol (2013) 2.18
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science (2007) 2.15
Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol (2011) 2.15
Molecular evolution of Pediculus humanus and the origin of clothing. Curr Biol (2003) 2.09
From social to genetic structures in central Asia. Curr Biol (2007) 2.09
Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set. PLoS Genet (2009) 2.07
Sexual inequality in tuberculosis. PLoS Med (2009) 2.06
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa. Am J Hum Genet (2004) 2.02
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet (2008) 2.02
Origins and genetic diversity of pygmy hunter-gatherers from Western Central Africa. Curr Biol (2009) 2.01
Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. Science (2013) 2.00
Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data. Genetics (2007) 2.00
A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet (2004) 1.97
Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci U S A (2008) 1.96
Demographic history of Oceania inferred from genome-wide data. Curr Biol (2010) 1.93
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet (2010) 1.88
The Genographic Project public participation mitochondrial DNA database. PLoS Genet (2007) 1.86
Reduced Y-chromosome, but not mitochondrial DNA, diversity in human populations from West New Guinea. Am J Hum Genet (2002) 1.86
Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages. Mol Biol Evol (2009) 1.86
Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations. Hum Genet (2004) 1.85
Molecular analysis reveals tighter social regulation of immigration in patrilocal populations than in matrilocal populations. Proc Natl Acad Sci U S A (2005) 1.83
A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Res (2012) 1.83
Y chromosomal evidence for the origins of oceanic-speaking peoples. Genetics (2002) 1.81
Evaluation of saliva as a source of human DNA for population and association studies. Anal Biochem (2006) 1.81
High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences. Eur J Hum Genet (2011) 1.80
Ancient west Eurasian ancestry in southern and eastern Africa. Proc Natl Acad Sci U S A (2014) 1.79
Genome-wide data substantiate Holocene gene flow from India to Australia. Proc Natl Acad Sci U S A (2013) 1.78
Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet (2011) 1.78
The genetic prehistory of southern Africa. Nat Commun (2012) 1.78
Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur J Hum Genet (2007) 1.78