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Page 1
Improving reporting standards for polygenic scores in risk prediction studies.
Wand H, Lambert SA, Tamburro C, Iacocca MA, O'Sullivan JW, Sillari C, Kullo IJ, Rowley R, Dron JS, Brockman D, Venner E, McCarthy MI, Antoniou AC, Easton DF, Hegele RA, Khera AV, Chatterjee N, Kooperberg C, Edwards K, Vlessis K, Kinnear K, Danesh JN, Parkinson H, Ramos EM, Roberts MC, Ormond KE, Khoury MJ, Janssens ACJW, Goddard KAB, Kraft P, MacArthur JAL, Inouye M, Wojcik GL. Wand H, et al. Among authors: venner e. Nature. 2021 Mar;591(7849):211-219. doi: 10.1038/s41586-021-03243-6. Epub 2021 Mar 10. Nature. 2021. PMID: 33692554 Free PMC article. Review.
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.
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.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: venner e. Circ Genom Precis Med. 2023 Apr;16(2):e003816. doi: 10.1161/CIRCGEN.122.003816. Epub 2023 Feb 22. Circ Genom Precis Med. 2023. PMID: 37071725
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.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Austin-Tse CA, et al. Among authors: venner e. NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z. NPJ Genom Med. 2022. PMID: 35395838 Free PMC article. Review.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. Among authors: venner e. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 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.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP. Amendola LM, et al. Among authors: venner e. Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26. Am J Hum Genet. 2020. PMID: 33108757 Free PMC article.
Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
Wang L, Scherer SE, Bielinski SJ, Muzny DM, Jones LA, Black JL 3rd, Moyer AM, Giri J, Sharp RR, Matey ET, Wright JA, Oyen LJ, Nicholson WT, Wiepert M, Sullard T, Curry TB, Rohrer Vitek CR, McAllister TM, St Sauver JL, Caraballo PJ, Lazaridis KN, Venner E, Qin X, Hu J, Kovar CL, Korchina V, Walker K, Doddapaneni H, Wu TJ, Raj R, Denson S, Liu W, Chandanavelli G, Zhang L, Wang Q, Kalra D, Karow MB, Harris KJ, Sicotte H, Peterson SE, Barthel AE, Moore BE, Skierka JM, Kluge ML, Kotzer KE, Kloke K, Vander Pol JM, Marker H, Sutton JA, Kekic A, Ebenhoh A, Bierle DM, Schuh MJ, Grilli C, Erickson S, Umbreit A, Ward L, Crosby S, Nelson EA, Levey S, Elliott M, Peters SG, Pereira N, Frye M, Shamoun F, Goetz MP, Kullo IJ, Wermers R, Anderson JA, Formea CM, El Melik RM, Zeuli JD, Herges JR, Krieger CA, Hoel RW, Taraba JL, St Thomas SR, Absah I, Bernard ME, Fink SR, Gossard A, Grubbs PL, Jacobson TM, Takahashi P, Zehe SC, Buckles S, Bumgardner M, Gallagher C, Fee-Schroeder K, Nicholas NR, Powers ML, Ragab AK, Richardson DM, Stai A, Wilson J, Pacyna JE, Olson JE, Sutton EJ, Beck AT, Horrow C, Kalari KR, Larson NB, Liu H, Wang L, Lopes GS, Borah BJ, Freimuth RR, Zhu Y, Jacobson DJ, Hathcock… See abstract for full author list ➔ Wang L, et al. Among authors: venner e. Genet Med. 2022 May;24(5):1062-1072. doi: 10.1016/j.gim.2022.01.022. Epub 2022 Mar 21. Genet Med. 2022. PMID: 35331649 Free PMC article.
40 results