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Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).
Bielinski SJ, St Sauver JL, Olson JE, Larson NB, Black JL, Scherer SE, Bernard ME, Boerwinkle E, Borah BJ, Caraballo PJ, Curry TB, Doddapaneni H, Formea CM, Freimuth RR, Gibbs RA, Giri J, Hathcock MA, Hu J, Jacobson DJ, Jones LA, Kalla S, Koep TH, Korchina V, Kovar CL, Lee S, Liu H, Matey ET, McGree ME, McAllister TM, Moyer AM, Muzny DM, Nicholson WT, Oyen LJ, Qin X, Raj R, Roger VL, Rohrer Vitek CR, Ross JL, Sharp RR, Takahashi PY, Venner E, Walker K, Wang L, Wang Q, Wright JA, Wu TJ, Wang L, Weinshilboum RM. Bielinski SJ, et al. Among authors: venner e. Int J Epidemiol. 2020 Feb 1;49(1):23-24k. doi: 10.1093/ije/dyz123. Int J Epidemiol. 2020. PMID: 31378813 Free PMC article. No abstract available.
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Overby Taylor C; eMERGE Network EHRI Working Group. Aronson S, et al. Among authors: venner e. J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051. J Am Med Inform Assoc. 2018. PMID: 29860405 Free PMC article.
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
Kullo IJ, Olson J, Fan X, Jose M, Safarova M, Radecki Breitkopf C, Winkler E, Kochan DC, Snipes S, Pacyna JE, Carney M, Chute CG, Gupta J, Jose S, Venner E, Murugan M, Jiang Y, Zordok M, Farwati M, Philogene M, Smith E, Shaibi GQ, Caraballo P, Freimuth R, Lindor NM, Sharp R, Thibodeau SN. Kullo IJ, et al. Among authors: venner e. Mayo Clin Proc. 2018 Nov;93(11):1600-1610. doi: 10.1016/j.mayocp.2018.06.026. Mayo Clin Proc. 2018. PMID: 30392543 Free PMC article.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA. Chiang T, et al. Among authors: venner e. Genet Med. 2019 Sep;21(9):2135-2144. doi: 10.1038/s41436-019-0475-4. Epub 2019 Mar 20. Genet Med. 2019. PMID: 30890783 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Genomic considerations for FHIR®; eMERGE implementation lessons.
Murugan M, Babb LJ, Overby Taylor C, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, Jarvik GP, Hakonarson H, Bangash H, Kullo IJ, Connolly JJ, Nestor JG, Caraballo PJ, Wei W, Wiley K, Rehm HL, Gibbs RA. Murugan M, et al. Among authors: venner e. J Biomed Inform. 2021 Jun;118:103795. doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28. J Biomed Inform. 2021. PMID: 33930535 Free PMC article.
Exome variant discrepancies due to reference-genome differences.
Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Li H, et al. Among authors: venner e. Am J Hum Genet. 2021 Jul 1;108(7):1239-1250. doi: 10.1016/j.ajhg.2021.05.011. Epub 2021 Jun 14. Am J Hum Genet. 2021. PMID: 34129815 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
41 results