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2013 4
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2026 0

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Page 1
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Inherited DNA-Repair Defects in Colorectal Cancer.
AlDubayan SH, Giannakis M, Moore ND, Han GC, Reardon B, Hamada T, Mu XJ, Nishihara R, Qian Z, Liu L, Yurgelun MB, Syngal S, Garraway LA, Ogino S, Fuchs CS, Van Allen EM. AlDubayan SH, et al. Am J Hum Genet. 2018 Mar 1;102(3):401-414. doi: 10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478780 Free PMC article.
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group. Ritter DI, et al. Genome Med. 2016 Nov 4;8(1):117. doi: 10.1186/s13073-016-0367-z. Genome Med. 2016. PMID: 27814769 Free PMC article.
Point-counterpoint. Ethics and genomic incidental findings.
McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, Caulfield T, Terry SF, Green RC. McGuire AL, et al. Science. 2013 May 31;340(6136):1047-8. doi: 10.1126/science.1240156. Epub 2013 May 16. Science. 2013. PMID: 23686340 Free PMC article. No abstract available.
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.
Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW. Robinson JO, et al. Genet Med. 2019 Dec;21(12):2781-2790. doi: 10.1038/s41436-019-0565-3. Epub 2019 Jun 13. Genet Med. 2019. PMID: 31189963 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.
Rethinking the "open future" argument against predictive genetic testing of children.
Garrett JR, Lantos JD, Biesecker LG, Childerhose JE, Chung WK, Holm IA, Koenig BA, McEwen JE, Wilfond BS, Brothers K; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. Garrett JR, et al. Genet Med. 2019 Oct;21(10):2190-2198. doi: 10.1038/s41436-019-0483-4. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894702 Free PMC article.
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. 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.
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. Yu JH, et al. Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17. Per Med. 2019. PMID: 31313633 Free PMC article.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
O'Daniel JM, Ackerman S, Desrosiers LR, Rego S, Knight SJ, Mollison L, Byfield G, Anderson KP, Danila MI, Horowitz CR, Joseph G, Lamoure G, Lindberg NM, McMullen CK, Mittendorf KF, Ramos MA, Robinson M, Sillari C, Madden EB; CSER Stakeholder and Engagement Work Group. O'Daniel JM, et al. Genet Med. 2022 May;24(5):1108-1119. doi: 10.1016/j.gim.2022.01.008. Epub 2022 Feb 25. Genet Med. 2022. PMID: 35227608 Free PMC article.
Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.
Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. Gray SW, et al. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625446 Free PMC article. Review.
Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma.
Van Allen EM, Mouw KW, Kim P, Iyer G, Wagle N, Al-Ahmadie H, Zhu C, Ostrovnaya I, Kryukov GV, O'Connor KW, Sfakianos J, Garcia-Grossman I, Kim J, Guancial EA, Bambury R, Bahl S, Gupta N, Farlow D, Qu A, Signoretti S, Barletta JA, Reuter V, Boehm J, Lawrence M, Getz G, Kantoff P, Bochner BH, Choueiri TK, Bajorin DF, Solit DB, Gabriel S, D'Andrea A, Garraway LA, Rosenberg JE. Van Allen EM, et al. Cancer Discov. 2014 Oct;4(10):1140-53. doi: 10.1158/2159-8290.CD-14-0623. Epub 2014 Aug 5. Cancer Discov. 2014. PMID: 25096233 Free PMC article.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. Sanghvi RV, et al. Genet Med. 2018 Aug;20(8):855-866. doi: 10.1038/gim.2017.192. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144510 Free PMC article.
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.
Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Rasmussen LV, et al. Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. Appl Clin Inform. 2016. PMID: 27652374 Free PMC article.
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, Jane-Valbuena J, Friedrich DC, Kryukov G, Carter SL, McKenna A, Sivachenko A, Rosenberg M, Kiezun A, Voet D, Lawrence M, Lichtenstein LT, Gentry JG, Huang FW, Fostel J, Farlow D, Barbie D, Gandhi L, Lander ES, Gray SW, Joffe S, Janne P, Garber J, MacConaill L, Lindeman N, Rollins B, Kantoff P, Fisher SA, Gabriel S, Getz G, Garraway LA. Van Allen EM, et al. Nat Med. 2014 Jun;20(6):682-8. doi: 10.1038/nm.3559. Epub 2014 May 18. Nat Med. 2014. PMID: 24836576 Free PMC article.
Physicians' attitudes about multiplex tumor genomic testing.
Gray SW, Hicks-Courant K, Cronin A, Rollins BJ, Weeks JC. Gray SW, et al. J Clin Oncol. 2014 May 1;32(13):1317-23. doi: 10.1200/JCO.2013.52.4298. Epub 2014 Mar 24. J Clin Oncol. 2014. PMID: 24663044 Free PMC article.
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, Liu D, Oliver N, MacConaill L, Ducar M, Rojas-Rudilla V, Giannakis M, Ghazani A, Gray S, Janne P, Garber J, Joffe S, Lindeman N, Wagle N, Garraway LA, Van Allen EM. Garofalo A, et al. Genome Med. 2016 Jul 26;8(1):79. doi: 10.1186/s13073-016-0333-9. Genome Med. 2016. PMID: 27460824 Free PMC article.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 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. 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.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. Jarvik GP, et al. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814192 Free PMC article.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Hart MR, et al. Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287922 Free PMC article.
When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.
Brothers KB, Holm IA, Childerhose JE, Antommaria AHM, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS; Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. Brothers KB, et al. J Pediatr. 2016 Jan;168:226-231.e1. doi: 10.1016/j.jpeds.2015.09.020. Epub 2015 Oct 23. J Pediatr. 2016. PMID: 26477867 Free PMC article. No abstract available.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group. Porter KM, et al. Mol Genet Genomic Med. 2018 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21. Mol Genet Genomic Med. 2018. PMID: 30133189 Free PMC article.
Illustrative case studies in the return of exome and genome sequencing results.
Amendola LM, Lautenbach D, Scollon S, Bernhardt B, Biswas S, East K, Everett J, Gilmore MJ, Himes P, Raymond VM, Wynn J, Hart R; CSER Genetic Counseling Working Group; Jarvik GP. Amendola LM, et al. Per Med. 2015;12(3):283-295. doi: 10.2217/pme.14.89. Per Med. 2015. PMID: 26478737 Free PMC article.
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. 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.