Publications
Correction: Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(12):e1006500.
. Correction: Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2022 ;12(1):88.
. Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 ;372(3):295-6.
. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 ;173(3):733-739.
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
. Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). PLoS Genet. 2009 ;5(1):e1000346.
. 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.
. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet. 2020 ;16(5):e1008742.
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Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin. Mol Ecol. 2017 ;26(18):4712-4724.
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 ;108(9):1710-1724.
. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 ;47(6):654-60.
. Convergent evolution of the genomes of marine mammals. Nat Genet. 2015 ;47(3):272-5.
. Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. Medicine (Baltimore). 2018 ;97(33):e11865.
. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 ;9(11):e1792.
. Construction of small genome BAC library for functional and genomic applications. Methods Mol Biol. 2004 ;255:47-56.
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The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 ;188(6):991-1012.
. Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler Thromb Vasc Biol. 2006 ;26(8):1828-36.
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Conservation of human chromosome 18 in baboons (Papio hamadryas): a linkage map of eight human microsatellites. Cytogenet Cell Genet. 1996 ;75(4):207-9.
. A consensus-based ensemble approach to improve transcriptome assembly. BMC Bioinformatics. 2021 ;22(1):513.
. 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.
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