Publications
An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 ;33(1):61-70.
. 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.
. 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.
. Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022 ;32(4):159-172.
. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 ;24(4):337-350.
. 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.
. Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?. J Mol Diagn. 2022 ;24(3):253-261.
. 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.
. Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 ;106(11):e4652-e4665.
. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 ;49(1):23-24k.
. 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.
. 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.
. 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.
. Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 ;26(8):2241-2256.e4.
. Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide. Pharmacogenet Genomics. 2018 ;28(11):251-255.
. Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics J. 2017 ;17(2):137-145.
. The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 ;26(9):1165-9.
. . A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor. Curr Biol. 2015 ;25(5):613-20.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 ;39(12):1488-93.
. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 ;99(6):646-55.
. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 ;440(7088):1194-8.
. Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia. Lab Invest. 2006 ;86(2):175-90.
. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A. 2006 ;103(47):17626-31.
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