Published in Nature on June 19, 2003
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
voom: Precision weights unlock linear model analysis tools for RNA-seq read counts. Genome Biol (2014) 8.13
Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci U S A (2007) 8.00
Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature (2010) 7.51
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A (2008) 5.94
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol (2009) 5.70
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet (2012) 5.16
Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes. Genome Res (2004) 3.09
Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature (2010) 2.92
RNA-based gene duplication: mechanistic and evolutionary insights. Nat Rev Genet (2009) 2.91
Contribution of Asian mouse subspecies Mus musculus molossinus to genomic constitution of strain C57BL/6J, as defined by BAC-end sequence-SNP analysis. Genome Res (2004) 2.55
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell (2009) 2.52
Gender-specific gene expression in post-mortem human brain: localization to sex chromosomes. Neuropsychopharmacology (2004) 2.48
GSVA: gene set variation analysis for microarray and RNA-seq data. BMC Bioinformatics (2013) 2.29
The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am J Hum Genet (2005) 2.26
Convergent evolution of chromosomal sex-determining regions in the animal and fungal kingdoms. PLoS Biol (2004) 2.22
The relationship among gene expression, the evolution of gene dosage, and the rate of protein evolution. PLoS Genet (2010) 2.20
A gradual process of recombination restriction in the evolutionary history of the sex chromosomes in dioecious plants. PLoS Biol (2004) 2.20
Sex determination: why so many ways of doing it? PLoS Biol (2014) 2.17
Chromosomal gene movements reflect the recent origin and biology of therian sex chromosomes. PLoS Biol (2008) 2.16
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature (2014) 2.15
Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration. Nat Rev Genet (2013) 2.08
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature (2012) 2.06
Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females. Science (2013) 2.00
DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med (2006) 2.00
Sex-determining mechanisms in land plants. Plant Cell (2004) 1.98
A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet (2004) 1.97
Evidence for different origin of sex chromosomes in snakes, birds, and mammals and step-wise differentiation of snake sex chromosomes. Proc Natl Acad Sci U S A (2006) 1.95
Origins and functional evolution of Y chromosomes across mammals. Nature (2014) 1.89
Rapid de novo evolution of X chromosome dosage compensation in Silene latifolia, a plant with young sex chromosomes. PLoS Biol (2012) 1.88
Evolutionary strata on the X chromosomes of the dioecious plant Silene latifolia: evidence from new sex-linked genes. Genetics (2007) 1.88
A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Res (2012) 1.83
Human germ cell differentiation from fetal- and adult-derived induced pluripotent stem cells. Hum Mol Genet (2010) 1.79
Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol (2010) 1.76
Low conservation of gene content in the Drosophila Y chromosome. Nature (2008) 1.72
A sex-ratio meiotic drive system in Drosophila simulans. II: an X-linked distorter. PLoS Biol (2007) 1.69
Detecting regular sound changes in linguistics as events of concerted evolution. Curr Biol (2014) 1.69
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Res (2006) 1.69
Two Y genes can replace the entire Y chromosome for assisted reproduction in the mouse. Science (2013) 1.66
Genomic degradation of a young Y chromosome in Drosophila miranda. Genome Biol (2008) 1.66
Multiple sex-associated regions and a putative sex chromosome in zebrafish revealed by RAD mapping and population genomics. PLoS One (2012) 1.63
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet (2003) 1.62
Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka. Genome Res (2006) 1.61
Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics. Biol Sex Differ (2013) 1.60
Dosage compensation of the sex chromosomes. Annu Rev Genet (2012) 1.59
Sex-specific adaptation drives early sex chromosome evolution in Drosophila. Science (2012) 1.58
Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol (2010) 1.58
Sex-chromosome evolution: recent progress and the influence of male and female heterogamety. Nat Rev Genet (2011) 1.57
Evolutionary expansion and divergence in the ZNF91 subfamily of primate-specific zinc finger genes. Genome Res (2006) 1.54
Origin and evolution of Y chromosomes: Drosophila tales. Trends Genet (2009) 1.53
Do you know the sex of your cells? Am J Physiol Cell Physiol (2013) 1.49
Sex determination in highly fragmented human DNA by high-resolution melting (HRM) analysis. PLoS One (2014) 1.48
Telomerase- and recombination-independent immortalization of budding yeast. Genes Dev (2004) 1.47
Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child (2010) 1.47
The temporal dynamics of processes underlying Y chromosome degeneration. Genetics (2008) 1.47
Sex determines the expression level of one third of the actively expressed genes in bovine blastocysts. Proc Natl Acad Sci U S A (2010) 1.46
Sex chromosome evolution: molecular aspects of Y-chromosome degeneration in Drosophila. Genome Res (2005) 1.46
Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition. Nature (2010) 1.46
Extensive concerted evolution of rice paralogs and the road to regaining independence. Genetics (2007) 1.46
The birds and the bees and the flowers and the trees: lessons from genetic mapping of sex determination in plants and animals. Genetics (2010) 1.45
Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. Cell (2014) 1.44
Analysis of the largest tandemly repeated DNA families in the human genome. BMC Genomics (2008) 1.43
Protein structure prediction for the male-specific region of the human Y chromosome. Proc Natl Acad Sci U S A (2004) 1.43
Genetic basis of Y-linked hearing impairment. Am J Hum Genet (2013) 1.42
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet (2004) 1.40
Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion. PLoS One (2016) 1.40
Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nat Genet (2009) 1.40
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics (2012) 1.39
Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase I. J Cell Biol (2005) 1.38
DMY gene induces male development in genetically female (XX) medaka fish. Proc Natl Acad Sci U S A (2007) 1.38
A genome-wide analysis of common fragile sites: what features determine chromosomal instability in the human genome? Genome Res (2012) 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
Chromosomal location and gene paucity of the male specific region on papaya Y chromosome. Mol Genet Genomics (2007) 1.35
Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution. Proc Natl Acad Sci U S A (2012) 1.35
Sex chromosome silencing in the marsupial male germ line. Proc Natl Acad Sci U S A (2007) 1.34
Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods (2006) 1.34
Maternal diets trigger sex-specific divergent trajectories of gene expression and epigenetic systems in mouse placenta. PLoS One (2012) 1.32
Gene organization of the liverwort Y chromosome reveals distinct sex chromosome evolution in a haploid system. Proc Natl Acad Sci U S A (2007) 1.31
Sexually dimorphic gene expression in the heart of mice and men. J Mol Med (Berl) (2007) 1.30
Identification of novel Y chromosome encoded transcripts by testis transcriptome analysis of mice with deletions of the Y chromosome long arm. Genome Biol (2005) 1.30
Evolution and survival on eutherian sex chromosomes. PLoS Genet (2009) 1.29
Strong purifying selection at genes escaping X chromosome inactivation. Mol Biol Evol (2010) 1.29
Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet (2005) 1.28
Isolation and characterization of Y chromosome sequences from the African malaria mosquito Anopheles gambiae. Genetics (2004) 1.27
TALEN-mediated editing of the mouse Y chromosome. Nat Biotechnol (2013) 1.26
A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics (2004) 1.26
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet (2011) 1.25
The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update (2010) 1.24
Chromosome rearrangements in evolution: From gene order to genome sequence and back. Proc Natl Acad Sci U S A (2003) 1.24
Novel gene acquisition on carnivore Y chromosomes. PLoS Genet (2006) 1.23
Effect of MHC and non-MHC donor/recipient genetic disparity on the outcome of allogeneic HCT. Blood (2012) 1.22
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. Hum Genomics (2004) 1.22
ZNF280BY and ZNF280AY: autosome derived Y-chromosome gene families in Bovidae. BMC Genomics (2011) 1.22
Evolution of sex chromosomes in insects. Annu Rev Genet (2010) 1.22
Molecular cytogenetic evidence of rearrangements on the Y chromosome of the threespine stickleback fish. Genetics (2008) 1.22
Specificity of the chromodomain Y chromosome family of chromodomains for lysine-methylated ARK(S/T) motifs. J Biol Chem (2008) 1.21
Accelerated adaptive evolution on a newly formed X chromosome. PLoS Biol (2009) 1.21
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A (2004) 33.85
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
Whole-genome sequencing and variant discovery in C. elegans. Nat Methods (2008) 31.92
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol (2009) 22.22
International network of cancer genome projects. Nature (2010) 20.35
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med (2013) 19.87
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
The B73 maize genome: complexity, diversity, and dynamics. Science (2009) 18.73
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Finding functional features in Saccharomyces genomes by phylogenetic footprinting. Science (2003) 16.49
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell (2010) 16.12
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res (2012) 15.90
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature (2012) 14.33
DNMT3A mutations in acute myeloid leukemia. N Engl J Med (2010) 14.07
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol (2003) 13.32
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
PCAP: a whole-genome assembly program. Genome Res (2003) 12.36
Diet-induced obesity is linked to marked but reversible alterations in the mouse distal gut microbiome. Cell Host Microbe (2008) 11.97
Unlocking the secrets of the genome. Nature (2009) 11.80
A prospective natural-history study of coronary atherosclerosis. N Engl J Med (2011) 10.66
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature (2012) 9.89
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project. Science (2010) 9.78
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
The origin and evolution of mutations in acute myeloid leukemia. Cell (2012) 9.66
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics (2012) 8.61
Comparison of genome degradation in Paratyphi A and Typhi, human-restricted serovars of Salmonella enterica that cause typhoid. Nat Genet (2004) 8.60
Assemblathon 1: a competitive assessment of de novo short read assembly methods. Genome Res (2011) 8.38
A catalog of reference genomes from the human microbiome. Science (2010) 8.10
Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature (2012) 8.03
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat Genet (2012) 7.61
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
WormBase: better software, richer content. Nucleic Acids Res (2006) 6.78
Clonal architecture of secondary acute myeloid leukemia. N Engl J Med (2012) 6.71
Automated cell lineage tracing in Caenorhabditis elegans. Proc Natl Acad Sci U S A (2006) 6.22
Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell (2012) 6.09