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A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. Tarczy-Hornoch P, et al. Among authors: plon se. Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26. Genet Med. 2013. PMID: 24071794 Free PMC article.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Yang Y, et al. Among authors: plon se. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088041 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. 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.
Genetic diagnosis through whole-exome sequencing.
Eng CM, Yang Y, Plon SE. Eng CM, et al. Among authors: plon se. N Engl J Med. 2014 Mar 13;370(11):1068. doi: 10.1056/NEJMc1315908. N Engl J Med. 2014. PMID: 24620872 No abstract available.
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, Overby CL. Shirts BH, et al. Among authors: plon se. J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3. J Am Med Inform Assoc. 2015. PMID: 26142422 Free PMC article.
Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.
Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE; Clinical Sequencing Exploratory Research Consortium Tumor Working Group. Raymond VM, et al. Among authors: plon se. J Natl Cancer Inst. 2015 Nov 20;108(4):djv351. doi: 10.1093/jnci/djv351. Print 2016 Apr. J Natl Cancer Inst. 2015. PMID: 26590952 Free PMC article.
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Posey JE, et al. Among authors: plon se. Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633545 Free PMC article.
Recommendations for the integration of genomics into clinical practice.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Bowdin S, et al. Among authors: plon se. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Genet Med. 2016. PMID: 27171546 Free PMC article. Review.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Among authors: plon se. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
237 results