Publications
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. . The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 ;482(7384):173-8.
. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
. . Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 ;12(7):R68.
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. Calpain-10 is a component of the obesity-related quantitative trait locus Adip1. J Lipid Res. 2010 ;51(5):907-13.
. Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study. PLoS One. 2010 ;5(5):e10521.
. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res. 2010 ;20(2):273-80.
. A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. Am J Hum Genet. 2010 ;86(3):440-6.
. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet. 2009 ;41(8):882-4.
. Carbohydrate intake modifies associations between ANGPTL4[E40K] genotype and HDL-cholesterol concentrations in White men from the Atherosclerosis Risk in Communities (ARIC) study. Atherosclerosis. 2009 ;203(1):214-20.
. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
. Genome-wide identification of allelic expression in hypertensive rats. Circ Cardiovasc Genet. 2009 ;2(2):106-15.
. The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. BMC Med Genet. 2009 ;10:56.
. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009 ;119(1):70-9.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
. . EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res. 2007 ;67(10):4665-70.
. A genomewide admixture map for Latino populations. Am J Hum Genet. 2007 ;80(6):1024-36.
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