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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
Functional characterization of 40 CYP2B6 allelic variants by assessing efavirenz 8-hydroxylation.
Watanabe T, Saito T, Rico EMG, Hishinuma E, Kumondai M, Maekawa M, Oda A, Saigusa D, Saito S, Yasuda J, Nagasaki M, Minegishi N, Yamamoto M, Yamaguchi H, Mano N, Hirasawa N, Hiratsuka M. Watanabe T, et al. Among authors: rico emg. Biochem Pharmacol. 2018 Oct;156:420-430. doi: 10.1016/j.bcp.2018.09.010. Epub 2018 Sep 8. Biochem Pharmacol. 2018. PMID: 30201214
Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity.
Hishinuma E, Narita Y, Rico EMG, Ueda A, Obuchi K, Tanaka Y, Saito S, Tadaka S, Kinoshita K, Maekawa M, Mano N, Nakayoshi T, Oda A, Hirasawa N, Hiratsuka M. Hishinuma E, et al. Among authors: rico emg. Drug Metab Dispos. 2023 Feb;51(2):165-173. doi: 10.1124/dmd.122.001045. Epub 2022 Nov 22. Drug Metab Dispos. 2023. PMID: 36414408