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The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Rini C, Khan CM, Moore E, Roche MI, Evans JP, Berg JS, Powell BC, Corbie-Smith G, Foreman AKM, Griesemer I, Lee K, O'Daniel JM, Henderson GE. Rini C, et al. Among authors: evans jp. Genet Med. 2018 Jul;20(7):760-769. doi: 10.1038/gim.2017.176. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261173 Free PMC article.
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group. Berg JS, et al. Among authors: evans jp. Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Genet Med. 2013. PMID: 24195999 Free PMC article. Review.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA. Hunter JE, et al. Among authors: evans jp. Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. Epub 2016 Apr 28. Genet Med. 2016. PMID: 27124788 Free PMC article.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. Berg JS, et al. Among authors: evans jp. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13. Genet Med. 2016. PMID: 26270767 Free PMC article.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Among authors: evans jp. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP. Vora NL, et al. Among authors: evans jp. Genet Med. 2017 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18. Genet Med. 2017. PMID: 28518170 Free PMC article.
622 results