Published in J Mol Diagn on November 02, 2013
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med (2016) 4.31
Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med (2014) 3.75
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
Broad, Hybrid Capture-Based Next-Generation Sequencing Identifies Actionable Genomic Alterations in Lung Adenocarcinomas Otherwise Negative for Such Alterations by Other Genomic Testing Approaches. Clin Cancer Res (2015) 2.12
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology (2014) 1.93
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet (2015) 1.57
Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol (2015) 1.56
Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. Nat Commun (2014) 1.27
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica (2014) 1.20
Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun (2015) 1.02
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing. Hum Mutat (2015) 1.00
Translating cancer genomes and transcriptomes for precision oncology. CA Cancer J Clin (2015) 0.97
Nanotherapy for Cancer: Targeting and Multifunctionality in the Future of Cancer Therapies. ACS Biomater Sci Eng (2015) 0.95
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients. Br J Cancer (2015) 0.94
Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection. Cancers (Basel) (2015) 0.94
Biallelic Inactivation of BRCA2 in Platinum-sensitive Metastatic Castration-resistant Prostate Cancer. Eur Urol (2015) 0.93
Protein residues that control the reaction trajectory in S-adenosylmethionine radical enzymes: mutagenesis of asparagine 153 and aspartate 155 in Escherichia coli biotin synthase. Biochemistry (2009) 0.93
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. Genome Med (2016) 0.92
Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors. Exp Mol Pathol (2015) 0.92
Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med (2016) 0.90
Genomic assays for Epstein-Barr virus-positive gastric adenocarcinoma. Exp Mol Med (2015) 0.89
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer (2015) 0.88
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies. J Mol Diagn (2016) 0.87
Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing. Mod Pathol (2014) 0.86
Cancer Driver Log (CanDL): Catalog of Potentially Actionable Cancer Mutations. J Mol Diagn (2015) 0.85
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis. Genet Med (2014) 0.84
A targeted next-generation sequencing method for identifying clinically relevant mutation profiles in lung adenocarcinoma. Sci Rep (2016) 0.84
Systematic discovery of complex insertions and deletions in human cancers. Nat Med (2015) 0.83
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples. PLoS One (2015) 0.82
Defining actionable mutations for oncology therapeutic development. Nat Rev Cancer (2016) 0.82
Comparison of custom capture for targeted next-generation DNA sequencing. J Mol Diagn (2015) 0.81
Enhanced cAMP-stimulated protein kinase A activity in human fibrolamellar hepatocellular carcinoma. Pediatr Res (2016) 0.80
Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. Biomed Res Int (2015) 0.79
Molecular markers predictive of chemotherapy response in colorectal cancer. Curr Gastroenterol Rep (2015) 0.78
Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool. J Genet Couns (2016) 0.78
Comprehensive mutation profiling by next-generation sequencing of effusion fluids from patients with high-grade serous ovarian carcinoma. Cancer Cytopathol (2015) 0.77
Precision Oncology Medicine: The Clinical Relevance of Patient-Specific Biomarkers Used to Optimize Cancer Treatment. J Clin Pharmacol (2016) 0.77
Ioncopy: a novel method for calling copy number alterations in amplicon sequencing data including significance assessment. Oncotarget (2016) 0.76
A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel. Exp Mol Pathol (2015) 0.76
CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel. Genet Med (2016) 0.76
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. Int J Mol Sci (2017) 0.75
Mismatch repair deficiency may be common in ductal adenocarcinoma of the prostate. Oncotarget (2016) 0.75
TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. Oncotarget (2016) 0.75
Clinicians' expectations for gene-driven cancer therapy. Clin Med Insights Oncol (2014) 0.75
Jumping translocations in myelodysplastic syndromes. Cancer Genet (2016) 0.75
Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing. PLoS One (2016) 0.75
Werner syndrome through the lens of tissue and tumour genomics. Sci Rep (2016) 0.75
Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective. Biomed Res Int (2016) 0.75
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes. Gastroenterology (2016) 0.75
A Distributed Network for Intensive Longitudinal Monitoring in Metastatic Triple-Negative Breast Cancer. J Natl Compr Canc Netw (2016) 0.75
Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. J Clin Invest (2014) 0.75
Advances in the Molecular Analysis of Soft Tissue Tumors and Clinical Implications. Surg Pathol Clin (2015) 0.75
Technological considerations for genome-guided diagnosis and management of cancer. Genome Med (2016) 0.75
ALK+ lung adenocarcinoma in never smokers and long-term ex-smokers: prevalence and detection by immunohistochemistry and fluorescence in situ hybridization. Virchows Arch (2016) 0.75
Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests. J Pathol Transl Med (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med (2004) 71.08
EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science (2004) 61.56
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01
Comprehensive molecular portraits of human breast tumours. Nature (2012) 47.39
Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med (2011) 45.46
Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl J Med (2001) 44.67
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Integrative genomics viewer. Nat Biotechnol (2011) 42.83
Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med (2010) 36.78
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A (2004) 33.85
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res (2012) 15.90
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics (2009) 15.08
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat Genet (2012) 7.61
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet (2011) 7.31
Development of personalized tumor biomarkers using massively parallel sequencing. Sci Transl Med (2010) 6.08
Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med (2011) 5.82
Profiling critical cancer gene mutations in clinical tumor samples. PLoS One (2009) 5.63
Detection of ultra-rare mutations by next-generation sequencing. Proc Natl Acad Sci U S A (2012) 5.53
CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods (2011) 5.34
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov (2011) 5.30
A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med (2012) 4.90
High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discov (2011) 4.78
Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia. Blood (2011) 3.41
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture. Genome Res (2012) 2.91
A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diagn (2010) 2.86
CONTRA: copy number analysis for targeted resequencing. Bioinformatics (2012) 2.64
Targeted next-generation sequencing of advanced prostate cancer identifies potential therapeutic targets and disease heterogeneity. Eur Urol (2012) 2.39
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing. Nat Genet (2011) 2.36
Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data. J Mol Diagn (2012) 2.02
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing. Genome Biol (2011) 1.60
ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia (2012) 1.42
Expression of the metabotropic glutamate receptor 5 (mGluR5) induces melanoma in transgenic mice. Proc Natl Acad Sci U S A (2011) 1.12
Next-generation human genetics. Genome Biol (2011) 1.07
Somatic mutations of PIK3R1 promote gliomagenesis. PLoS One (2012) 1.06
Metabotropic glutamate receptor 1 (Grm1) is an oncogene in epithelial cells. Oncogene (2012) 1.01
Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet (2002) 1.01
Grist for the MLL: how do MLL oncogenic fusion proteins generate leukemia stem cells? Int J Hematol (2010) 0.98
Library preparation and multiplex capture for massive parallel sequencing applications made efficient and easy. PLoS One (2012) 0.88
Blocking glutamate-mediated signalling inhibits human melanoma growth and migration. Exp Dermatol (2012) 0.86
The genes encoding the glutamate receptor subunits KA1 and KA2 (GRIK4 and GRIK5) are located on separate chromosomes in human, mouse, and rat. Proc Natl Acad Sci U S A (1994) 0.79
Flow cytometry of ALK-negative anaplastic large cell lymphoma of breast implant-associated effusion and capsular tissue. Cytometry B Clin Cytom (2014) 1.54
Detection of minimal residual disease in B lymphoblastic leukemia by high-throughput sequencing of IGH. Clin Cancer Res (2014) 1.22
Clinical utility of a circulating tumor cell assay in Merkel cell carcinoma. J Am Acad Dermatol (2013) 0.79
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes. Gastroenterology (2016) 0.75
Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia. Pediatr Blood Cancer (2016) 0.75