Publications
Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012 ;7(11):e47768.
. Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol. 2011 ;29(5):415-20.
. Mining genetic epidemiology data with Bayesian networks application to APOE gene variation and plasma lipid levels. J Comput Biol. 2005 ;12(1):1-11.
. Mining genetic epidemiology data with Bayesian networks I: Bayesian networks and example application (plasma apoE levels). Bioinformatics. 2005 ;21(15):3273-8.
. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 ;8(1):106.
. Mis-assembled "segmental duplications" in two versions of the Bos taurus genome. PLoS One. 2012 ;7(8):e42680.
. Mismatch repair gene mutations lead to lynch syndrome colorectal cancer in rhesus macaques. Genes Cancer. 2018 ;9(3-4):142-152.
. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;55(11):7159-64.
. missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 ;2(4).
. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019 ;.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. The mitogenome of the bed bug (Hemiptera: Cimicidae). Mitochondrial DNA B Resour. 2016 ;1(1):425-427.
. Mixed-phenotype acute leukemia (MPAL) exhibits frequent mutations in DNMT3A and activated signaling genes. Exp Hematol. 2016 ;44(8):740-4.
. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A. 2018 ;115(11):2806-2811.
. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 ;229(1):99-110.
. MMP2 genetic variation is associated with measures of fibrous cap thickness: The Atherosclerosis Risk in Communities Carotid MRI Study. Atherosclerosis. 2010 ;210(1):188-93.
. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. Molecular basis of retinal remodeling in a zebrafish model of retinitis pigmentosa. Cell Mol Life Sci. 2023 ;80(12):362.
. The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 1991 ;108(2):299-304.
. Molecular characterization of 125I decay and X-ray-induced HPRT mutants in CHO cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1987 ;51(2):193-9.
. Molecular characterization of a widespread, pathogenic, and antibiotic resistance-receptive Enterococcus faecalis lineage and dissemination of its putative pathogenicity island. J Bacteriol. 2005 ;187(16):5709-18.
. Molecular cloning of the wild-type and mutant thyA gene from Shigella flexneri Y. Microbiol Immunol. 1994 ;38(4):309-12.
. Molecular Correlates of Metastasis by Systematic Pan-Cancer Analysis Across The Cancer Genome Atlas. Mol Cancer Res. 2019 ;17(2):476-487.
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