Published in Nature on April 01, 2004
A census of human transcription factors: function, expression and evolution. Nat Rev Genet (2009) 9.19
A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study. Lancet Neurol (2014) 4.37
Genome-wide analysis of KAP1 binding suggests autoregulation of KRAB-ZNFs. PLoS Genet (2007) 3.75
Complex Loci in human and mouse genomes. PLoS Genet (2006) 3.74
Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors. Genome Biol (2012) 3.61
Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes. Genome Res (2011) 1.91
A high utility integrated map of the pig genome. Genome Biol (2007) 1.88
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Human heterochromatin proteins form large domains containing KRAB-ZNF genes. Genome Res (2006) 1.72
Radial chromatin positioning is shaped by local gene density, not by gene expression. Chromosoma (2007) 1.45
5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome. Genome Res (2009) 1.43
Analysis of the largest tandemly repeated DNA families in the human genome. BMC Genomics (2008) 1.43
Comparative analysis of chicken chromosome 28 provides new clues to the evolutionary fragility of gene-rich vertebrate regions. Genome Res (2007) 1.36
Conserved syntenic clusters of protein coding genes are missing in birds. Genome Biol (2014) 1.29
Word frequency analysis reveals enrichment of dinucleotide repeats on the human X chromosome and [GATA]n in the X escape region. Genome Res (2006) 1.20
SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data. BMC Genomics (2005) 1.19
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination. Genome Res (2009) 1.17
FAST DB: a website resource for the study of the expression regulation of human gene products. Nucleic Acids Res (2005) 1.14
Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease. Cytogenet Genome Res (2009) 1.13
The sodium iodide symporter (NIS): regulation and approaches to targeting for cancer therapeutics. Pharmacol Ther (2012) 1.12
Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome. BMC Genomics (2010) 1.08
Transcriptional profiling of human liver identifies sex-biased genes associated with polygenic dyslipidemia and coronary artery disease. PLoS One (2011) 1.06
A newly discovered human alpha-globin gene. Blood (2005) 1.05
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1. J Med Genet (2009) 1.02
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet (2011) 1.02
Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci. Mol Cancer (2010) 1.01
Uprobe: a genome-wide universal probe resource for comparative physical mapping in vertebrates. Genome Res (2004) 0.99
Inter-chromosomal variation in the pattern of human population genetic structure. Hum Genomics (2011) 0.98
Colocalization of coregulated genes: a steered molecular dynamics study of human chromosome 19. PLoS Comput Biol (2013) 0.92
Hepatitis B virus and Homo sapiens proteome-wide analysis: A profusion of viral peptide overlaps in neuron-specific human proteins. Biologics (2010) 0.92
MAST3: a novel IBD risk factor that modulates TLR4 signaling. Genes Immun (2008) 0.90
Species-specific evolution of immune receptor tyrosine based activation motif-containing CEACAM1-related immune receptors in the dog. BMC Evol Biol (2007) 0.90
Phylogenetic analysis of the vertebrate excitatory/neutral amino acid transporter (SLC1/EAAT) family reveals lineage specific subfamilies. BMC Evol Biol (2010) 0.89
Noncanonical STAT3 activation regulates excess TGF-β1 and collagen I expression in muscle of stricturing Crohn's disease. J Immunol (2015) 0.89
A high-resolution physical map of equine homologs of HSA19 shows divergent evolution compared with other mammals. Mamm Genome (2005) 0.88
Distinct patterns of 1p and 19q alterations identify subtypes of human gliomas that have different prognoses. Neuro Oncol (2010) 0.86
Expression of the leukemic prognostic marker CD7 is linked to epigenetic modifications in chronic myeloid leukemia. Mol Cancer (2010) 0.83
Unsupervised genome-wide recognition of local relationship patterns. BMC Genomics (2013) 0.83
Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature. Mol Cytogenet (2014) 0.82
Chromosome 19 annotations with disease speciation: a first report from the Global Research Consortium. J Proteome Res (2012) 0.82
Genomic instability and copy-number heterogeneity of chromosome 19q, including the kallikrein locus, in ovarian carcinomas. Mol Oncol (2010) 0.82
NOTCH2 is neither rearranged nor mutated in t(1;19) positive oligodendrogliomas. PLoS One (2009) 0.82
En bloc duplications, mutation rates, and densities of amino acid changes clarify the evolution of vertebrate alpha-1,3/4-fucosyltransferases. J Mol Evol (2006) 0.82
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3. Eur J Hum Genet (2009) 0.82
RuvBL2 is involved in histone deacetylase inhibitor PCI-24781-induced cell death in SK-N-DZ neuroblastoma cells. PLoS One (2013) 0.82
Deciphering the molecular nature of ovarian cancer biomarker CA125. Int J Mol Sci (2012) 0.82
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet (2015) 0.81
Evolutionary origin and functional divergence of totipotent cell homeobox genes in eutherian mammals. BMC Biol (2016) 0.81
IL12Rβ1: the cytokine receptor that we used to know. Cytokine (2014) 0.81
A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree. Neurogenetics (2012) 0.80
Characterization of the Glycosylation Site of Human PSA Prompted by Missense Mutation using LC-MS/MS. J Proteome Res (2015) 0.79
The baboon kidney transcriptome: analysis of transcript sequence, splice variants, and abundance. PLoS One (2013) 0.79
Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus. Arthritis Res Ther (2014) 0.79
Regional regulation of transcription in the bovine genome. PLoS One (2011) 0.78
Autoantibodies to Synaptic Receptors and Neuronal Cell Surface Proteins in Autoimmune Diseases of the Central Nervous System. Physiol Rev (2017) 0.78
Detection of Allelic Frequency Differences between the Sexes in Humans: A Signature of Sexually Antagonistic Selection. Genome Biol Evol (2016) 0.77
Organizational heterogeneity of vertebrate genomes. PLoS One (2012) 0.76
Outlier Analysis Defines Zinc Finger Gene Family DNA Methylation in Tumors and Saliva of Head and Neck Cancer Patients. PLoS One (2015) 0.76
Identification of the long, edited dsRNAome of LPS-stimulated immune cells. Genome Res (2016) 0.76
Clinical and molecular characterization of a de novo 19p13.3 microdeletion. Mol Cytogenet (2016) 0.75
Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood. Front Behav Neurosci (2014) 0.75
Promoter-Specific Expression and Genomic Structure of IgLON Family Genes in Mouse. Front Neurosci (2017) 0.75
NSIT: novel sequence identification tool. PLoS One (2014) 0.75
Systems-level chromosomal parameters represent a suprachromosomal basis for the non-random chromosomal arrangement in human interphase nuclei. Sci Rep (2016) 0.75
Transformation-associated recombination (TAR) cloning for genomics studies and synthetic biology. Chromosoma (2016) 0.75
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures. Genome Res (2014) 0.75
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X. PLoS One (2017) 0.75
Short intron-derived ncRNAs. Nucleic Acids Res (2017) 0.75
Genomic landscape of CpG rich elements in human. BMC Evol Biol (2017) 0.75
The domain structure and distribution of Alu elements in long noncoding RNAs and mRNAs. RNA (2015) 0.75
Looking through genomics--from the editors. Funct Integr Genomics (2005) 0.75
Minimal-assumption inference from population-genomic data. Elife (2017) 0.75
Identification, chromosomal arrangements and expression analyses of the evolutionarily conserved prmt1 gene in chicken in comparison with its vertebrate paralogue prmt8. PLoS One (2017) 0.75
The human genome browser at UCSC. Genome Res (2002) 168.23
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
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
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
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Comparative metagenomics of microbial communities. Science (2005) 25.88
The UCSC Table Browser data retrieval tool. Nucleic Acids Res (2004) 25.12
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science (2002) 20.59
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
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
Community structure and metabolism through reconstruction of microbial genomes from the environment. Nature (2004) 20.20
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
ChIP-seq accurately predicts tissue-specific activity of enhancers. Nature (2009) 18.38
Genome sequence of the palaeopolyploid soybean. Nature (2010) 17.82
Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data. Nucleic Acids Res (2005) 17.58
A randomized trial of low-dose aspirin in the primary prevention of cardiovascular disease in women. N Engl J Med (2005) 17.32
2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol (2013) 17.18
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
High-resolution mapping and characterization of open chromatin across the genome. Cell (2008) 15.93
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
A phylogeny-driven genomic encyclopaedia of Bacteria and Archaea. Nature (2009) 15.06
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
The Sorghum bicolor genome and the diversification of grasses. Nature (2009) 14.62
An integrated software system for analyzing ChIP-chip and ChIP-seq data. Nat Biotechnol (2008) 13.96
The integrated microbial genomes (IMG) system in 2007: data content and analysis tool extensions. Nucleic Acids Res (2007) 13.81
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet (2007) 13.78
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
VISTA: computational tools for comparative genomics. Nucleic Acids Res (2004) 13.52
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Vitamin E in the primary prevention of cardiovascular disease and cancer: the Women's Health Study: a randomized controlled trial. JAMA (2005) 12.09
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Genome-wide analysis of transcription factor binding sites based on ChIP-Seq data. Nat Methods (2008) 11.61
Phytozome: a comparative platform for green plant genomics. Nucleic Acids Res (2011) 11.32
The Chlamydomonas genome reveals the evolution of key animal and plant functions. Science (2007) 11.15
Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution. Genome Res (2003) 11.12
The draft genome of Ciona intestinalis: insights into chordate and vertebrate origins. Science (2002) 11.11
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet (2008) 10.87
In vivo enhancer analysis of human conserved non-coding sequences. Nature (2006) 10.60
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles. Science (2005) 10.46