Publications
Comparison of gene indexing databases. Trends Genet. 1999 ;15(4):159-62.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
. Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol. 2004 ;186(17):5842-55.
. A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. The completion of the Mammalian Gene Collection (MGC). Genome Res. 2009 ;19(12):2324-33.
. The completion of the Mammalian Gene Collection (MGC). Genome Res. 2009 ;19(12):2324-33.
. The completion of the Mammalian Gene Collection (MGC). Genome Res. 2009 ;19(12):2324-33.
. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 ;11(3):e1005050.
. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
. Complexity and diversity of F8 genetic variations in the 1000 genomes. J Thromb Haemost. 2015 ;13(11):2031-40.
. Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 ;41(6):1420-1423.
. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 2015 ;47(10):1121-1130.
. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun. 2015 ;6:10001.
. Comprehensive Characterization of Cancer Driver Genes and Mutations. Cell. 2018 ;173(2):371-385.e18.
. A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers. Cancer Cell. 2018 ;33(4):690-705.e9.
. A comprehensive transcriptional map of primate brain development. Nature. 2016 ;535(7612):367-75.
. A comprehensive transcriptional map of primate brain development. Nature. 2016 ;535(7612):367-75.
. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 ;54(1):47-53.
. A consensus-based ensemble approach to improve transcriptome assembly. BMC Bioinformatics. 2021 ;22(1):513.
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The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 ;188(6):991-1012.
. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 ;188(6):991-1012.
. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 ;9(11):e1792.
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