Published in Genome Res on December 01, 2003
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Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules. Proc Natl Acad Sci U S A (1990) 3.11
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Extension of the GOOD assay for genotyping single nucleotide polymorphisms by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom (2003) 0.88
Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease. Am J Med Genet (2001) 0.83
Technical aspects of typing for HLA-DP alleles using allele-specific DNA in vitro amplification and sequence-specific oligonucleotide probes. Detection of single base mismatches. J Immunol Methods (1990) 0.80
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The genome of the kinetoplastid parasite, Leishmania major. Science (2005) 8.64
The primary transcriptome of the major human pathogen Helicobacter pylori. Nature (2010) 7.70
The DNA sequence of the human X chromosome. Nature (2005) 6.97
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Dissecting the genomic complexity underlying medulloblastoma. Nature (2012) 4.77
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
Revealing structure and assembly cues for Arabidopsis root-inhabiting bacterial microbiota. Nature (2012) 4.42
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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
The genome sequence of Atlantic cod reveals a unique immune system. Nature (2011) 3.99
Whole genome analysis of the marine Bacteroidetes'Gramella forsetii' reveals adaptations to degradation of polymeric organic matter. Environ Microbiol (2006) 3.79
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments. Nucleic Acids Res (2010) 3.36
Genome expansion and gene loss in powdery mildew fungi reveal tradeoffs in extreme parasitism. Science (2010) 3.35
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature (2008) 3.28
A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Mol Cell (2004) 3.26
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
The senescence-related mitochondrial/oxidative stress pathway is repressed in human induced pluripotent stem cells. Stem Cells (2010) 3.17
Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer. Cancer Cell (2013) 3.08
Genome sequence of the chlorinated compound-respiring bacterium Dehalococcoides species strain CBDB1. Nat Biotechnol (2005) 3.07
Automated Gene Ontology annotation for anonymous sequence data. Nucleic Acids Res (2003) 3.02
Versatile gene-specific sequence tags for Arabidopsis functional genomics: transcript profiling and reverse genetics applications. Genome Res (2004) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
GOblet: a platform for Gene Ontology annotation of anonymous sequence data. Nucleic Acids Res (2004) 2.99
SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96
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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Construction and analysis of a human-chimpanzee comparative clone map. Science (2002) 2.83
ConsensusPathDB: toward a more complete picture of cell biology. Nucleic Acids Res (2010) 2.79
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A gene expression map of human chromosome 21 orthologues in the mouse. Nature (2002) 2.76
Biochemical and proteomic analysis of the magnetosome membrane in Magnetospirillum gryphiswaldense. Appl Environ Microbiol (2004) 2.74
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Computational analysis of genome-wide DNA methylation during the differentiation of human embryonic stem cells along the endodermal lineage. Genome Res (2010) 2.61
BISMA--fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences. BMC Bioinformatics (2010) 2.60
Hox cluster disintegration with persistent anteroposterior order of expression in Oikopleura dioica. Nature (2004) 2.54
A bile acid-like steroid modulates Caenorhabditis elegans lifespan through nuclear receptor signaling. Proc Natl Acad Sci U S A (2007) 2.50
T cells become licensed in the lung to enter the central nervous system. Nature (2012) 2.45
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Chromatin methylation activity of Dnmt3a and Dnmt3a/3L is guided by interaction of the ADD domain with the histone H3 tail. Nucleic Acids Res (2010) 2.39
DNA methylation analysis of chromosome 21 gene promoters at single base pair and single allele resolution. PLoS Genet (2009) 2.37
Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol Biol Cell (2007) 2.30
Dynamic link of DNA demethylation, DNA strand breaks and repair in mouse zygotes. EMBO J (2010) 2.30
Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res (2004) 2.29
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25
Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity. BMC Med Genomics (2011) 2.24
A comparison of oligonucleotide and cDNA-based microarray systems. Physiol Genomics (2004) 2.21
Deep sequencing-based discovery of the Chlamydia trachomatis transcriptome. Nucleic Acids Res (2009) 2.20
On the origin of the chordate central nervous system: expression of onecut in the sea urchin embryo. Evol Dev (2004) 2.19
Analysis of Oct4-dependent transcriptional networks regulating self-renewal and pluripotency in human embryonic stem cells. Stem Cells (2006) 2.18
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet (2008) 2.17
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A hypervariable 130-kilobase genomic region of Magnetospirillum gryphiswaldense comprises a magnetosome island which undergoes frequent rearrangements during stationary growth. J Bacteriol (2005) 2.13
MicroRNA profiling of clear cell renal cell cancer identifies a robust signature to define renal malignancy. J Cell Mol Med (2009) 2.12
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One (2010) 2.10
A conspicuous nickel protein in microbial mats that oxidize methane anaerobically. Nature (2003) 2.10
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
An atlas of Hfq-bound transcripts reveals 3' UTRs as a genomic reservoir of regulatory small RNAs. EMBO J (2012) 2.10
Characterizing the mouse ES cell transcriptome with Illumina sequencing. Genomics (2008) 2.09
Human box C/D snoRNAs with miRNA like functions: expanding the range of regulatory RNAs. Nucleic Acids Res (2010) 2.08
Genome-wide massively parallel sequencing of formaldehyde fixed-paraffin embedded (FFPE) tumor tissues for copy-number- and mutation-analysis. PLoS One (2009) 2.04
Analysis of the host microRNA response to Salmonella uncovers the control of major cytokines by the let-7 family. EMBO J (2011) 2.03
Classification and identification of bacteria by mass spectrometry and computational analysis. PLoS One (2008) 2.03
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet (2012) 1.99
Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex. Genes Dev (2008) 1.96
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
The genome sequence of an anaerobic aromatic-degrading denitrifying bacterium, strain EbN1. Arch Microbiol (2004) 1.88
Fibroblast growth factor 2 modulates transforming growth factor beta signaling in mouse embryonic fibroblasts and human ESCs (hESCs) to support hESC self-renewal. Stem Cells (2006) 1.88
Dissection of the inflammatory bowel disease transcriptome using genome-wide cDNA microarrays. PLoS Med (2005) 1.88
Parallel evolution of nacre building gene sets in molluscs. Mol Biol Evol (2009) 1.88
Plasticity of animal genome architecture unmasked by rapid evolution of a pelagic tunicate. Science (2010) 1.86
Characterization of a spontaneous nonmagnetic mutant of Magnetospirillum gryphiswaldense reveals a large deletion comprising a putative magnetosome island. J Bacteriol (2003) 1.85
TLR2 has a detrimental role in mouse transient focal cerebral ischemia. Biochem Biophys Res Commun (2007) 1.84
An efficient and economic enhancer mix for PCR. Biochem Biophys Res Commun (2006) 1.82
Comparative genome analysis of four magnetotactic bacteria reveals a complex set of group-specific genes implicated in magnetosome biomineralization and function. J Bacteriol (2007) 1.80
A centrosome-independent role for gamma-TuRC proteins in the spindle assembly checkpoint. Science (2006) 1.76
High throughput identification of potential Arabidopsis mitogen-activated protein kinases substrates. Mol Cell Proteomics (2005) 1.75
Genetic analysis of the mouse brain proteome. Nat Genet (2002) 1.73
Alternative pathways as mechanism for the negative effects associated with overexpression of superoxide dismutase. J Theor Biol (2005) 1.71
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Eur J Heart Fail (2011) 1.70
Primary differentiation in the human blastocyst: comparative molecular portraits of inner cell mass and trophectoderm cells. Stem Cells (2005) 1.68
No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis. Oncotarget (2011) 1.68
High-resolution transcriptome maps reveal strain-specific regulatory features of multiple Campylobacter jejuni isolates. PLoS Genet (2013) 1.67
Comparative analysis of magnetosome gene clusters in magnetotactic bacteria provides further evidence for horizontal gene transfer. Environ Microbiol (2009) 1.66
New evidence for genome-wide duplications at the origin of vertebrates using an amphioxus gene set and completed animal genomes. Genome Res (2003) 1.65
Non-imprinted allele-specific DNA methylation on human autosomes. Genome Biol (2009) 1.64
Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics (2011) 1.63