Published in Nucleic Acids Res on July 03, 2011
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Predicting the functional effect of amino acid substitutions and indels. PLoS One (2012) 8.61
Melanoma genome sequencing reveals frequent PREX2 mutations. Nature (2012) 7.77
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet (2011) 6.43
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Comprehensive identification of mutational cancer driver genes across 12 tumor types. Sci Rep (2013) 3.92
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41
Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol (2012) 3.20
Network-based stratification of tumor mutations. Nat Methods (2013) 3.12
Functional impact bias reveals cancer drivers. Nucleic Acids Res (2012) 2.96
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet (2012) 2.71
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Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma. Oncotarget (2012) 2.03
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Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods (2013) 1.64
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Protein identification using customized protein sequence databases derived from RNA-Seq data. J Proteome Res (2011) 1.62
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A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. Nat Genet (2017) 1.38
Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet (2017) 1.38
Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. Genome Med (2012) 1.32
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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci U S A (2014) 1.24
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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med (2015) 1.22
A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. Mol Cancer Ther (2014) 1.21
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci (2014) 1.20
BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Oncotarget (2013) 1.20
Identification of a pan-cancer oncogenic microRNA superfamily anchored by a central core seed motif. Nat Commun (2013) 1.19
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. Genome Biol (2014) 1.19
KRAS (but not BRAF) mutations in ovarian serous borderline tumour are associated with recurrent low-grade serous carcinoma. J Pathol (2013) 1.19
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet (2013) 1.18
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet (2012) 1.18
Automated extraction and semantic analysis of mutation impacts from the biomedical literature. BMC Genomics (2012) 1.18
Comparison of predicted and actual consequences of missense mutations. Proc Natl Acad Sci U S A (2015) 1.17
SNPdbe: constructing an nsSNP functional impacts database. Bioinformatics (2011) 1.16
Better prediction of functional effects for sequence variants. BMC Genomics (2015) 1.16
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet (2016) 1.16
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat (2015) 1.12
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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet (2014) 1.10
Systematic investigation of cancer-associated somatic point mutations in SNP databases. Nat Biotechnol (2013) 1.10
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev (2014) 1.07
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HER2 activating mutations are targets for colorectal cancer treatment. Cancer Discov (2015) 1.07
Retracted Mutation pattern is an influential factor on functional mutation rates in cancer. Cancer Cell Int (2016) 1.06
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med (2015) 1.05
RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke (2014) 1.04
The mutational landscape of chromatin regulatory factors across 4,623 tumor samples. Genome Biol (2013) 1.03
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Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions. Nucleic Acids Res (2014) 1.01
CanDrA: cancer-specific driver missense mutation annotation with optimized features. PLoS One (2013) 1.00
Distinguishing between driver and passenger mutations in individual cancer genomes by network enrichment analysis. BMC Bioinformatics (2014) 1.00
EpilepsyGene: a genetic resource for genes and mutations related to epilepsy. Nucleic Acids Res (2014) 0.99
DriverDB: an exome sequencing database for cancer driver gene identification. Nucleic Acids Res (2013) 0.99
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WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies. Biochim Biophys Acta (2014) 0.98
DawnRank: discovering personalized driver genes in cancer. Genome Med (2014) 0.98
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Hum Genomics (2014) 0.98
Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations. Proc Natl Acad Sci U S A (2015) 0.98
Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics. Genome Med (2012) 0.97
Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer. Cancer Lett (2014) 0.97
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci (2016) 0.97
Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center. Oncologist (2015) 0.97
Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive. EBioMedicine (2016) 0.97
Dynamic evolution of clonal epialleles revealed by methclone. Genome Biol (2014) 0.97
Single nucleotide variations: biological impact and theoretical interpretation. Protein Sci (2014) 0.97
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The consensus coding sequences of human breast and colorectal cancers. Science (2006) 60.02
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An integrated genomic analysis of human glioblastoma multiforme. Science (2008) 51.36
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
A census of human cancer genes. Nat Rev Cancer (2004) 36.20
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (2008) 36.02
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Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature (2009) 19.65
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CancerGenes: a gene selection resource for cancer genome projects. Nucleic Acids Res (2006) 3.00
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Distinguishing cancer-associated missense mutations from common polymorphisms. Cancer Res (2007) 2.57
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Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Hum Mutat (2006) 1.01
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies. Nat Genet (2009) 2.51
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DGCR8-dependent microRNA biogenesis is essential for skin development. Proc Natl Acad Sci U S A (2008) 2.49
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The mutational landscape of adenoid cystic carcinoma. Nat Genet (2013) 1.83
An Integrated Metabolic Atlas of Clear Cell Renal Cell Carcinoma. Cancer Cell (2016) 1.79
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Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma. PLoS One (2012) 1.76
Identification of PHLPP1 as a tumor suppressor reveals the role of feedback activation in PTEN-mutant prostate cancer progression. Cancer Cell (2011) 1.74
Distinct patterns of dysregulated expression of enzymes involved in androgen synthesis and metabolism in metastatic prostate cancer tumors. Cancer Res (2012) 1.71
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Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy. Clin Cancer Res (2014) 1.57
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Genomic complexity and AKT dependence in serous ovarian cancer. Cancer Discov (2012) 1.50
miR-34a repression in proneural malignant gliomas upregulates expression of its target PDGFRA and promotes tumorigenesis. PLoS One (2012) 1.44
An epidemiologic and genomic investigation into the obesity paradox in renal cell carcinoma. J Natl Cancer Inst (2013) 1.42
Analysis of microRNA-target interactions across diverse cancer types. Nat Struct Mol Biol (2013) 1.41
Small RNA sequencing and functional characterization reveals MicroRNA-143 tumor suppressor activity in liposarcoma. Cancer Res (2011) 1.40
MYC cooperates with AKT in prostate tumorigenesis and alters sensitivity to mTOR inhibitors. PLoS One (2011) 1.38
Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest (2016) 1.36
18F-fluorodeoxy-glucose positron emission tomography marks MYC-overexpressing human basal-like breast cancers. Cancer Res (2011) 1.36
Computational analysis of mouse piRNA sequence and biogenesis. PLoS Comput Biol (2007) 1.36
Superoxide dismutase 1 (SOD1) is a target for a small molecule identified in a screen for inhibitors of the growth of lung adenocarcinoma cell lines. Proc Natl Acad Sci U S A (2011) 1.30
Integrative subtype discovery in glioblastoma using iCluster. PLoS One (2012) 1.29
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Network modeling of the transcriptional effects of copy number aberrations in glioblastoma. Mol Syst Biol (2011) 1.26
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