Publications
Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 ;26(8):2241-2256.e4.
. Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 ;38(3):687-695.
. Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics J. 2017 ;17(2):137-145.
. Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 ;28(11):251-255.
. Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?. J Mol Diagn. 2022 ;24(3):253-261.
. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 ;60(6):547-556.
. A physical map of the human genome. Nature. 2001 ;409(6822):934-41.
. Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations. Nicotine Tob Res. 2020 ;22(6):910-918.
. Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in and . Drug Metab Dispos. 2019 ;47(4):425-435.
. Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 ;106(11):e4652-e4665.
. Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clin Genet. 2019 ;95(4):534-536.
. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 ;39(12):1488-93.
. The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
. A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor. Curr Biol. 2015 ;25(5):613-20.
. Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 ;81(7):1039-48.
. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 ;107(25):3184-90.
. Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer. Biotechniques. 2002 ;32(6):1366, 1368, 1370-1.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 ;24(5):1062-1072.
. A High-throughput Approach to Identify Effective Systemic Agents for the Treatment of Anaplastic Thyroid Carcinoma. J Clin Endocrinol Metab. 2021 ;106(10):2962-2978.
. A high-resolution map of human chromosome 12. Nature. 2001 ;409(6822):945-6.
. Growth factor-induced transcription of GluR1 increases functional AMPA receptor density in glial progenitor cells. J Neurosci. 1997 ;17(1):227-40.
. Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. BMC Biol. 2017 ;15(1):63.
. The genome sequence of Drosophila melanogaster. Science. 2000 ;287(5461):2185-95.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
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