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.
. Genetic basis for in vivo daptomycin resistance in enterococci. N Engl J Med. 2011 ;365(10):892-900.
. Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. Genome Biol. 2011 ;12(8):R81.
. Genome-sequencing anniversary. Bringing genomics and genetics back together. Science. 2011 ;331(6017):548.
. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 ;478(7370):476-82.
. 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.
. Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol. 2011 ;29(5):415-20.
. The promise of a personalized genomic approach to pancreatic cancer and why targeted therapies have missed the mark. World J Surg. 2011 ;35(8):1766-9.
. Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiol Genomics. 2011 ;43(18):1029-37.
. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 ;12(7):R68.
. 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.
. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
. A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. Discovery of novel microRNAs in female reproductive tract using next generation sequencing. PLoS One. 2010 ;5(3):e9637.
. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 ;327(5963):343-8.
. Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010 ;11(11):R113.
. Genetics: Decoding a national treasure. Nature. 2010 ;463(7279):303-4.
. A map of human genome variation from population-scale sequencing. Nature. 2010 ;467(7319):1061-73.
. Personal genome research : what should the participant be told?. Trends Genet. 2010 ;26(5):199-201.
. Sequencing technologies - the next generation. Nat Rev Genet. 2010 ;11(1):31-46.
. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res. 2010 ;20(2):273-80.
. Source identification in two criminal cases using phylogenetic analysis of HIV-1 DNA sequences. Proc Natl Acad Sci U S A. 2010 ;107(50):21242-7.
. Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010 ;11(6):R62.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
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