Publications
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome. Nat Commun. 2016 ;7:10165.
. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013 ;8(1):e51622.
. Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. Lab Invest. 2008 ;88(7):694-721.
. UALCAN: A Portal for Facilitating Tumor Subgroup Gene Expression and Survival Analyses. Neoplasia. 2017 ;19(8):649-658.
. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 ;45(3):674-683.
. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
. Two novel simian arteriviruses in captive and wild baboons (Papio spp.). J Virol. 2014 ;88(22):13231-9.
. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 ;59(8):367-72.
. TWIST represses estrogen receptor-alpha expression by recruiting the NuRD protein complex in breast cancer cells. Int J Biol Sci. 2012 ;8(4):522-32.
. Tumour-suppressor microRNAs regulate ovarian cancer cell physical properties and invasive behaviour. Open Biol. 2016 ;6(11).
. Tumor-Derived Extracellular Vesicles as Liquid Biopsy for Diagnosis and Prognosis of Solid Tumors: Their Clinical Utility and Reliability as Tumor Biomarkers. Cancers (Basel). 2024 ;16(13).
. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 ;43(3):189-96.
. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 ;23(1):271.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. Trp modification signals a quorum. Nat Chem Biol. 2005 ;1(1):7-8.
. Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis. Am J Primatol. 2007 ;69(10):1105-18.
. Treponema pallidum infection in the wild baboons of East Africa: distribution and genetic characterization of the strains responsible. PLoS One. 2012 ;7(12):e50882.
. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. Mol Immunol. 2002 ;38(11):817-24.
. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 ;13(3):594-600.
. Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections. BMC Med. 2021 ;19(1):255.
. Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections. medRxiv. 2021 ;.
. Translocation of Enterococcus faecalis strains across a monolayer of polarized human enterocyte-like T84 cells. J Clin Microbiol. 2004 ;42(3):1149-54.
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