Published in Hum Mutat on June 01, 2007
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Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol (2008) 0.93
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Functional annotation of putative regulatory elements at cancer susceptibility Loci. Cancer Inform (2014) 0.79
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Some phenotype association tools in Galaxy: looking for disease SNPs in a full genome. Curr Protoc Bioinformatics (2012) 0.75
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
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Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
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Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer. Nat Med (2009) 6.61
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
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Distinguishing regulatory DNA from neutral sites. Genome Res (2003) 5.63
Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med (2005) 5.51
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Using genomic data to unravel the root of the placental mammal phylogeny. Genome Res (2007) 4.52
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci U S A (2005) 4.38
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Global regulation of erythroid gene expression by transcription factor GATA-1. Blood (2004) 4.22
Human Proteinpedia enables sharing of human protein data. Nat Biotechnol (2008) 4.21
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Comparative and demographic analysis of orang-utan genomes. Nature (2011) 3.83
A database of locus-specific databases. Nat Genet (2007) 3.83
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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat (2002) 3.65
Exploring relationships and mining data with the UCSC Gene Sorter. Genome Res (2005) 3.59
The ENCODE Project at UC Santa Cruz. Nucleic Acids Res (2006) 3.57
Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat. Genome Res (2004) 3.53
Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet (2003) 3.52
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Proc Natl Acad Sci U S A (2003) 3.52
Defining functional DNA elements in the human genome. Proc Natl Acad Sci U S A (2014) 3.35
Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Hum Mutat (2004) 3.34
Forces shaping the fastest evolving regions in the human genome. PLoS Genet (2006) 3.32
Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett (2005) 3.24
Association between active genes occurs at nuclear speckles and is modulated by chromatin environment. J Cell Biol (2008) 3.13
A GATA-1-regulated microRNA locus essential for erythropoiesis. Proc Natl Acad Sci U S A (2008) 3.10
A complex chromatin landscape revealed by patterns of nuclease sensitivity and histone modification within the mouse beta-globin locus. Mol Cell Biol (2003) 3.09
The UCSC Cancer Genomics Browser. Nat Methods (2009) 3.08
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02
Evolution and functional classification of vertebrate gene deserts. Genome Res (2004) 2.92
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91