Published in Hum Mutat on August 06, 2013
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An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
Genome sequence and analysis of the tuber crop potato. Nature (2011) 7.77
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A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81
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New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
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Building the sequence map of the human pan-genome. Nat Biotechnol (2009) 5.53
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
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The oyster genome reveals stress adaptation and complexity of shell formation. Nature (2012) 5.30
Genomewide association studies of stroke. N Engl J Med (2009) 5.29
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24
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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell (2012) 5.16
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An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size. Science (2011) 4.76
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Effects of Bacille Calmette-Guerin after the first demyelinating event in the CNS. Neurology (2013) 4.60
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A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Distinct DNA methylomes of newborns and centenarians. Proc Natl Acad Sci U S A (2012) 4.26
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
The DNA methylome of human peripheral blood mononuclear cells. PLoS Biol (2010) 4.25
Regression of castrate-recurrent prostate cancer by a small-molecule inhibitor of the amino-terminus domain of the androgen receptor. Cancer Cell (2010) 4.16
KaKs_Calculator: calculating Ka and Ks through model selection and model averaging. Genomics Proteomics Bioinformatics (2006) 4.15
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Dynamic T cell migration program provides resident memory within intestinal epithelium. J Exp Med (2010) 4.09
Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma. Nat Genet (2012) 4.07
Genome-wide patterns of genetic variation among elite maize inbred lines. Nat Genet (2010) 4.06
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
Structure of the amantadine binding site of influenza M2 proton channels in lipid bilayers. Nature (2010) 3.95
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet (2013) 3.87
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome. Nat Biotechnol (2012) 3.83
Comparative population genomics of maize domestication and improvement. Nat Genet (2012) 3.78
Two Dobzhansky-Muller genes interact to cause hybrid lethality in Drosophila. Science (2006) 3.77
Maize HapMap2 identifies extant variation from a genome in flux. Nat Genet (2012) 3.74
Sclerostin mediates bone response to mechanical unloading through antagonizing Wnt/beta-catenin signaling. J Bone Miner Res (2009) 3.69
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Real-time observation of transcription initiation and elongation on an endogenous yeast gene. Science (2011) 3.67
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet (2011) 3.66
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain (2010) 3.66
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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
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Draft genome sequence of chickpea (Cicer arietinum) provides a resource for trait improvement. Nat Biotechnol (2013) 3.41
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37