Publications
Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):374-382.
. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 ;46(12):1267-73.
. 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.
. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 ;342(6154):1235587.
. Whole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome. Blood [Internet]. 2013 ;122(21):2558. http://www.bloodjournal.org/content/122/21/2558
. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 ;482(7384):173-8.
. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun. 2010 ;1:131.
. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques. Science. 2007 ;316(5822):240-3.
. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 ;4(11):903-5.
. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
. Comparative analysis of the bovine MHC class IIb sequence identifies inversion breakpoints and three unexpected genes. Anim Genet. 2006 ;37(2):121-9.
. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 ;440(7088):1194-8.
. The finished DNA sequence of human chromosome 12. Nature. 2006 ;440(7082):346-51.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 ;8(1):29-40.
. Using BODIPY dye-primer chemistry in large-scale sequencing. IEEE Eng Med Biol Mag. 1998 ;17(6):88-93.
. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 ;7(4):315-29.
. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997 ;7(3):268-80.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res. 1996 ;6(4):314-26.
. Method for 96-well M13 DNA template preparations for large-scale sequencing. Biotechniques. 1996 ;20(6):1022-7.
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