Publications
Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 ;111(31):11473-8.
. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 ;111(31):11473-8.
. Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 ;450(7171):893-8.
. Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res. 2005 ;15(7):914-27.
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In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science. 2004 ;306(5696):690-5.
. In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science. 2004 ;306(5696):690-5.
. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 ;28(8):1126-1135.
. Prepublication data sharing. Nature. 2009 ;461(7261):168-70.
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 ;491(7424):399-405.
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
. In silico genetics: identification of a functional element regulating H2-Ealpha gene expression. Science. 2004 ;306(5696):690-5.
. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
. Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res. 2005 ;15(7):914-27.
. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. The DNA sequence of human chromosome 7. Nature. 2003 ;424(6945):157-64.
. Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res. 2004 ;14(4):766-79.
. A physical map of the chicken genome. Nature. 2004 ;432(7018):761-4.
. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 ;434(7034):724-31.
. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol. 2004 ;55(3):435-8.
. Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res. 2004 ;14(4):766-79.
. Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res. 2005 ;15(7):914-27.
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