Publications
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Cardiovasc Genet. 2011 ;4(1):36-42.
. Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus. Oncogene. 2005 ;24(11):1958-63.
. Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010 ;11(6):R62.
. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 ;12(7):R68.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 ;12(7):R68.
. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 ;46(12):1267-73.
. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 ;8(4):544-52.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res. 2007 ;67(10):4665-70.
. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 ;8(4):544-52.
. Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012 ;7(11):e47768.
. Pol iota is a candidate for the mouse pulmonary adenoma resistance 2 locus, a major modifier of chemically induced lung neoplasia. Cancer Res. 2004 ;64(6):1924-31.
. Differentially expressed nucleolar TGF-beta1 target (DENTT) in mouse development. Dev Dyn. 2003 ;226(3):491-511.
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EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res. 2007 ;67(10):4665-70.
. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. Proc Natl Acad Sci U S A. 2003 ;100(22):12642-7.
. Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus. Oncogene. 2005 ;24(11):1958-63.
. Pol iota is a candidate for the mouse pulmonary adenoma resistance 2 locus, a major modifier of chemically induced lung neoplasia. Cancer Res. 2004 ;64(6):1924-31.
. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 ;46(12):1267-73.
. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
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