Publications
Inferring population mutation rate and sequencing error rate using the SNP frequency spectrum in a sample of DNA sequences. Mol Biol Evol. 2009 ;26(7):1479-90.
. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 ;189(2):140-1.
. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 ;50(3):1336-43.
. 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.
. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009 ;119(1):70-9.
. Estimating population genetic parameters and comparing model goodness-of-fit using DNA sequences with error. Genome Res. 2010 ;20(1):101-9.
. A map of human genome variation from population-scale sequencing. Nature. 2010 ;467(7319):1061-73.
. Mutational analysis of the latency-associated nuclear antigen DNA-binding domain of Kaposi's sarcoma-associated herpesvirus reveals structural conservation among gammaherpesvirus origin-binding proteins. J Gen Virol. 2010 ;91(Pt 9):2203-15.
. Phosphorylation of the mutant K303R estrogen receptor alpha at serine 305 affects aromatase inhibitor sensitivity. Oncogene. 2010 ;29(16):2404-14.
. A systematic approach to identify functional motifs within vertebrate developmental enhancers. Dev Biol. 2010 ;337(2):484-95.
. 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.
. Genetic basis for in vivo daptomycin resistance in enterococci. N Engl J Med. 2011 ;365(10):892-900.
. High-resolution characterization of a hepatocellular carcinoma genome. Nat Genet. 2011 ;43(5):464-9.
. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. Integrated genomic analyses of ovarian carcinoma. Nature. 2011 ;474(7353):609-15.
Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell lines. Cancer Genet. 2011 ;204(8):447-57.
. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 ;20(17):3366-75.
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 ;155A(9):2071-7.
. Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing. PLoS One. 2012 ;7(3):e33036.
. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 ;487(7407):330-7.
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 ;18(9):1423-8.
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