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Elizabeth J. Thomson

Researcher at National Institutes of Health

Publications -  38
Citations -  33253

Elizabeth J. Thomson is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genetic testing & Hemochromatosis. The author has an hindex of 23, co-authored 38 publications receiving 28655 citations. Previous affiliations of Elizabeth J. Thomson include University of California, Los Angeles & Baylor College of Medicine.

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Journal ArticleDOI

Comprehensive molecular characterization of human colon and rectal cancer

Donna M. Muzny, +320 more
- 19 Jul 2012 - 
TL;DR: Integrative analyses suggest new markers for aggressive colorectal carcinoma and an important role for MYC-directed transcriptional activation and repression.
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Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Roger E. McLendon, +233 more
- 23 Oct 2008 - 
TL;DR: The interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated gliobeasts, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.
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The Genotype-Tissue Expression (GTEx) project

John T. Lonsdale, +129 more
- 29 May 2013 - 
TL;DR: The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
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Integrated genomic analyses of ovarian carcinoma

Debra A. Bell, +285 more
- 30 Jun 2011 - 
TL;DR: It is reported that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1,BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes.
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Comprehensive genomic characterization of squamous cell lung cancers

Peter S. Hammerman, +345 more
- 27 Sep 2012 - 
TL;DR: It is shown that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour.