Publications
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Filters: Author is Wheeler, David A and Keyword is Mutation [Clear All Filters]
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun. 2015 ;6:10001.
. Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes. Nat Genet. 2015 ;47(12):1426-34.
. Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: PALB2 mutation predicts exceptional in vivo response to BMN 673. Pediatr Blood Cancer. 2015 ;62(1):91-8.
. Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors. Cancer Cell. 2015 ;27(2):286-97.
. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 ;6:8891.
. Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. Nat Commun. 2015 ;6:6604.
. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. J Pathol. 2014 ;232(5):522-33.
. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014 ;20(24):6582-92.
. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 ;511(7508):241-5.
. Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res. 2014 ;20(14):3842-8.
. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 ;46(12):1267-73.
. Landscape of somatic retrotransposition in human cancers. Science. 2012 ;337(6097):967-71.
. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 ;491(7424):399-405.
. Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 2011 ;144(5):703-18.
. Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer. Clin Cancer Res. 2011 ;17(21):6658-70.
. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 ;333(6046):1154-7.
. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science. 2009 ;324(5926):528-32.
. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 ;84(5):617-27.
. Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 ;455(7216):1069-75.
. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
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