Publications
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. Identification of novel fusion transcripts in meningioma. J Neurooncol. 2020 ;149(2):219-230.
. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 ;60(6):E1-3.
. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 ;17(10):831-5.
. 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.
. Integrated analyses of microRNAs demonstrate their widespread influence on gene expression in high-grade serous ovarian carcinoma. PLoS One. 2012 ;7(3):e34546.
. Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas. Cell Rep. 2019 ;28(5):1370-1384.e5.
. Integrated Molecular Characterization of Testicular Germ Cell Tumors. Cell Rep. 2018 ;23(11):3392-3406.
. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 ;2(5):a001057.
. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. Cell Rep. 2017 ;18(11):2780-2794.
. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013 ;3(7):770-81.
. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. BMC Bioinformatics. 2016 ;17:188.
. Landscape of somatic retrotransposition in human cancers. Science. 2012 ;337(6097):967-71.
. A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor. Curr Biol. 2015 ;25(5):613-20.
. Mixed-phenotype acute leukemia (MPAL) exhibits frequent mutations in DNMT3A and activated signaling genes. Exp Hematol. 2016 ;44(8):740-4.
. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 ;229(1):99-110.
. Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment. Cancer Cell. 2021 ;39(1):38-53.e7.
. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 ;116(43):21715-21726.
. Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 ;14(10):2476-89.
. MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data. Genome Biol. 2016 ;17(1):178.
. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014 ;20(24):6582-92.
. 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.
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