Publications
A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 ;23(3):488-497.
. Change in Neutrophil-to-lymphocyte ratio (NLR) in response to immune checkpoint blockade for metastatic renal cell carcinoma. J Immunother Cancer. 2018 ;6(1):5.
. Characterization of HPV and host genome interactions in primary head and neck cancers. Proc Natl Acad Sci U S A. 2014 ;111(43):15544-9.
. Chromosome rearrangement and diversification of Francisella tularensis revealed by the type B (OSU18) genome sequence. J Bacteriol. 2006 ;188(19):6977-85.
. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74.
. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 ;22(10):1633-1641.
. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 ;22(10):1633-1641.
. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).
. Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes. Proc Natl Acad Sci U S A. 2004 ;101(15):5646-51.
. 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.
. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun. 2015 ;6:10001.
. Comprehensive Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2017 ;72(4):641-649.
. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015 ;10:110.
. Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015 ;56(6):3642-55.
. 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.
. 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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Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A. 2011 ;108(46):E1128-36.
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