Publications

2016

Evans BJ. Impact of HIPAA's Minimum Necessary Standard on Genomic Data Sharing. Genetics in Medicine (in press).

Abou Tayoun AN, Krock B, Spinner NB. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Rev Mol Diagn. 2016 Sep;16(9):987-99. doi: 10.1080/14737159.2016.1209411. PMID: 27388938.

Allyse M, Evans JP, Michie M. Dr. Pangloss's Clinic: Prenatal Whole Genome Sequencing and a Return to Reality. Am J Bioeth. 2017 Jan;17(1):21-23. No abstract available. PMID: 27996895.

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, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available. PMID: 27392081.

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, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 Jun 2;98(6):1067-76. doi: 10.1016/j.ajhg.2016.03.024. PMID: 27181684.

Bavle AA, Lin FY, Parsons DW. Applications of Genomic Sequencing in Pediatric CNS Tumors. Oncology (Williston Park). 2016 May;30(5):411-23. Review. PMID: 27188671.

Berg JS. Exploring the importance of case-level clinical information for variant interpretation. Genet Med. 2017 Jan;19(1):3-5. doi: 10.1038/gim.2016.106. No abstract available. PMID: 27561084.

Biesecker BB, Woolford SW, Klein WM, Brothers KB, Umstead KL, Lewis KL, Biesecker LG, Han PK. PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing. Clin Genet. 2016 Dec 7. doi: 10.1111/cge.12949. [Epub ahead of print]. PMID: 27925165.

Biesecker LG. Long QT Syndrome and Potentially Pathogenic Genetic Variants. JAMA. 2016 Jun 14;315(22):2467. doi: 10.1001/jama.2016.2918. No abstract available. PMID: 27299623.

Bissig-Choisat B, Kettlun-Leyton C, Legras XD, Zorman B, Barzi M, Chen LL, Amin MD, Huang YH, Pautler RG, Hampton OA, Prakash MM, Yang D, Borowiak M, Muzny D, Doddapaneni HV, Hu J, Shi Y, Gaber MW, Hicks MJ, Thompson PA, Lu Y, Mills GB, et al. Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer. J Hepatol. 2016 Aug;65(2):325-33. doi: 10.1016/j.jhep.2016.04.009. PMID: 27117591.

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, et al. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Review. PMID: 27171546.

Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW. Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results. Genet Med. 2017 Mar;19(3):337-344. doi: 10.1038/gim.2016.110. PMID: 27561086.

Cacioppo CN, Chandler AE, Towne MC, Beggs AH, Holm IA. Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study. PLoS One. 2016 Apr 15;11(4):e0153597. doi: 10.1371/journal.pone.0153597. PMID: 27082877.

Cohn EG, Henderson GE, Appelbaum PS. Distributive justice, diversity, and inclusion in precision medicine: what will success look like?. Genet Med. 2017 Feb;19(2):157-159. doi: 10.1038/gim.2016.92. No abstract available. PMID: 27490116.

Conway-Pearson LS, Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon P, Cacioppo CN, Green RC, Holm IA. Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 Dec;18(12):1308-1311. doi: 10.1038/gim.2016.45. PMID: 27148937.

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. The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. Genome Med. 2016 Jul 26;8(1):79. doi: 10.1186/s13073-016-0333-9. PMID: 27460824.

Garrett LT, Hickman N, Jacobson A, Bennett RL, Amendola LM, Rosenthal EA, Shirts BH. Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool. J Genet Couns. 2016 Dec;25(6):1146-1156. PMID: 27422780.

Green RC, Goddard KA, 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, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2;98(6):1051-66. doi: 10.1016/j.ajhg.2016.04.011. PMID: 27181682.

Green RC, Goddard KA, 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, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. No abstract available. PMID: 27392080.

Guan Y, Roter DL, Erby LH, Wolff JL, Gitlin LN, Roberts JS, Green RC, Christensen KD. Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study. Patient Educ Couns. 2016 Dec 14. pii: S0738-3991(16)30558-4. doi: 10.1016/j.pec.2016.12.005. [Epub ahead of print]. PMID: 28012682.

Hong CS, Singh LN, Mullikin JC, Biesecker LG. Assessing the reproducibility of exome copy number variations predictions. Genome Med. 2016 Aug 8;8(1):82. doi: 10.1186/s13073-016-0336-6. PMID: 27503473.

Hooker GW, Umstead KL, Lewis KL, Koehly LK, Biesecker LG, Biesecker BB. Engagement and communication among participants in the ClinSeq Genomic Sequencing Study. Genet Med. 2017 Jan;19(1):98-103. doi: 10.1038/gim.2016.71. PMID: 27763633.

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, et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. PMID: 27124788.

Jarvik GP, Browning BL. Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. Am J Hum Genet. 2016 Jun 2;98(6):1077-81. doi: 10.1016/j.ajhg.2016.04.003. PMID: 27236918.

Jarvik GP, Evans JP. Mastering genomic terminology. Genet Med. 2016 Sep 22. doi: 10.1038/gim.2016.139. [Epub ahead of print] No abstract available. PMID: 27657676.

Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemp Clin Trials. 2017 Feb;53:100-105. doi: 10.1016/j.cct.2016.12.007. PMID: 27940182.

Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001057. doi: 10.1101/mcs.a001057. PMID: 27626068.

Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. PMID: 27749843.

MacRae CA, Vasan RS. The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine. Circulation. 2016 Jun 21;133(25):2634-9. doi: 10.1161/CIRCULATIONAHA.116.022547. Review. No abstract available. PMID: 27324359.

Marshall DA, Gonzalez JM, Johnson FR, MacDonald KV, Pugh A, Douglas MP, Phillips KA. What are people willing to pay for whole-genome sequencing information, and who decides what they receive?. Genet Med. 2016 Dec;18(12):1295-1302. doi: 10.1038/gim.2016.61. PMID: 27253734.

Mathias PC, Tarczy-Hornoch P, Shirts BH. Modeling the costs of clinical decision support for genomic precision medicine. AMIA Jt Summits Transl Sci Proc. 2016 Jul 20;2016:60-4. PMID: 27570652.

May T, Strong KA, Zusevics KL, Jeruzal J, Farrell MH, LaPean Kirschner A, Derse AR, Evans JP, Grotevant HD. Does Lack of "Genetic-Relative Family Health History" Represent a Potentially Avoidable Health Disparity for Adoptees?. Am J Bioeth. 2016 Dec;16(12):33-38. PMID: 27901440.

Mehra R, Vats P, Cieslik M, Cao X, Su F, Shukla S, Udager AM, Wang R, Pan J, Kasaian K, Lonigro R, Siddiqui J, Premkumar K, Palapattu G, Weizer A, Hafez KS, Wolf JS Jr, Sangoi AR, Trpkov K, Osunkoya AO, Zhou M, Giannico G, et al. Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney. Cancer Discov. 2016 Nov;6(11):1258-1266. PMID: 27604489.

Mody RJ, Prensner JR, Everett J, Parsons DW, Chinnaiyan AM. Precision medicine in pediatric oncology: Lessons learned and next steps. Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26288. Review. PMID: 27748023.

MÃ¸ller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, DorfmÃ¼ller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2016 Oct 31;2(6):e118. PMID: 27830187.

Ng D, Hong CS, Singh LN, Johnston JJ, Mullikin JC, Biesecker LG. Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening. Genet Med. 2017 Mar;19(3):357-361. doi: 10.1038/gim.2016.105. PMID: 27537706.

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, et al. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2016 Nov 3. doi: 10.1038/gim.2016.152. [Epub ahead of print]. PMID: 27811861.

Patton J, Brewer C, Chien W, Johnston JJ, Griffith AJ, Biesecker LG. A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness. Eur J Hum Genet. 2016 Jan;25(1):147-149. doi: 10.1038/ejhg.2016.140. PMID: 27759032.

Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016 Oct 13;538(7624):161-164. doi: 10.1038/538161a. No abstract available. PMID: 27734877.

Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2016 Oct 17. doi: 10.1002/pbc.26286. [Epub ahead of print]. PMID: 27748010.

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. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. PMID: 27652374.

Richards JE, Bane E, Fullerton SM, Ludman EJ, Jarvik G. Allocation of Resources to Communication of Research Result Summaries. J Empir Res Hum Res Ethics. 2016 Oct;11(4):364-369. doi: 10.1177/1556264616667126. PMID: 27613778.

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.. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 Nov 4;8(1):117. PMID: 27814769.

Sabatello M, Appelbaum PS. Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings. J Law Med Ethics. 2016 Jun;44(2):292-308. doi: 10.1177/1073110516654123. PMID: 27338605.

Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS. Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. Clin Cancer Res. 2016 Aug 15;22(16):4087-94. doi: 10.1158/1078-0432.CCR-16-0015. PMID: 27083775.

Tan N, Amendola LM, O'Daniel JM, Burt A, Horike-Pyne MJ, Boshe L, Henderson GE, Rini C, Roche MI, Hisama FM, Burke W, Wilfond B, Jarvik GP. Is "incidental finding" the best term?: a study of patients' preferences. Genet Med. 2017 Feb;19(2):176-181. doi: 10.1038/gim.2016.96. PMID: 27490114.

Wang C, Gordon ES, Norkunas T, Wawak L, Liu CT, Winter M, Kasper RS, Christman MF, Green RC, Bowen DJ. A randomized trial Examining The Impact Of Communicating Genetic And Lifestyle Risks For Obesity. Obesity (Silver Spring). 2016 Dec;24(12):2481-2490. doi: 10.1002/oby.21661. PMID: 27891830.

Wynn J, Martinez J, Duong J, Chiuzan C, Phelan JC, Fyer A, Klitzman RL, Appelbaum PS, Chung WK. Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research. J Genet Couns. 2016 Dec 29. doi: 10.1007/s10897-016-0059-2. [Epub ahead of print]. PMID: 28035592.

Zikmund-Fisher BJ. When "Actionable" Genomic Sequencing Results Cannot be Acted Upon. JAMA Oncol. 2016 Sep 22. doi: 10.1001/jamaoncol.2016.3283. [Epub ahead of print] No abstract available. PMID: 27657856.

2017

Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KA. Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing. Genet Med. 2017 Jan 12. doi: 10.1038/gim.2016.198. [Epub ahead of print]. PMID: 28079899.

Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource.. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z. PMID: 28081714.

2015

Green RC, Goddard KA, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Ana CF, Chinnaiyan AM, Chung WK, Clayton EW, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Hutter CM, Janne PA, Jarvik GP, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio T, McCullough L, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama J, 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, for the CSER Consortium.. The Clinical Sequencing Exploratory Research Consortium: Accelerating the Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 May 12. pii: S0002-9297(16)30106-9. doi: 10.1016/j.ajhg.2016.04.011. PMID: 27181682.

Adams MC, Berg JS, Pearlman MD, Vora NL. Look before you leap: genomic screening in obstetrics and gynecology. Obstet Gynecol. 2015 Jun;125(6):1299-305. doi: 10.1097/AOG.0000000000000871. PMID: 26000500.

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, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. PMID: 25637381.

Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15;526(7573):336-42. doi: 10.1038/nature15816. Review. PMID: 26469044.

Bacon PL, Harris ED, Ziniel SI, Savage SK, Weitzman ER, Green RC, Huntington NL, Holm IA. The development of a preference-setting model for the return of individual genomic research results. J Empir Res Hum Res Ethics. 2015 Apr;10(2):107-20. doi: 10.1177/1556264615572092. PMID: 25742675.

Berkman BE, Hull SC, Biesecker LG. Scrutinizing the Right Not to Know. Am J Bioeth. 2015;15(7):17-9. doi: 10.1080/15265161.2015.1039733. No abstract available. PMID: 26147256.

Bernhardt BA, Roche MI, Perry DL, Scollon SR, Tomlinson AN, Skinner D. Experiences with obtaining informed consent for genomic sequencing. Am J Med Genet A. 2015 Nov;167A(11):2635-46. doi: 10.1002/ajmg.a.37256. PMID: 26198374.

Blumenthal-Barby JS, McGuire AL, Green RC, Ubel PA. How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencing. Genome Med. 2015 Jan 22;7(1):3. doi: 10.1186/s13073-015-0132-8. PMID: 25614766.

Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 2015 Jul 2;97(1):6-21. doi: 10.1016/j.ajhg.2015.05.022. Review. Erratum in: Am J Hum Genet. 2015 Sep 3;97(3):501. PMID: 26140447.

Brothers KB, Rothstein MA. Ethical, legal and social implications of incorporating personalized medicine into healthcare. Per Med. 2015;12(1):43-51. PMID: 25601880.

Burke W, Korngiebel DM. Closing the gap between knowledge and clinical application: challenges for genomic translation. PLoS Genet. 2015 Feb 26;11(2):e1004978. doi: 10.1371/journal.pgen.1004978. Review. PMID: 25719903.

Carere DA, Kraft P, Kaphingst KA, Roberts JS, Green RC. Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing. Genet Med. 2016 Jan;18(1):65-72. doi: 10.1038/gim.2015.34. PMID: 25812042.

Carere DA, VanderWeele T, Moreno TA, Mountain JL, Roberts JS, Kraft P, Green RC; PGen Study Group.. The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study. BMC Med Genomics. 2015 Oct 15;8:63. doi: 10.1186/s12920-015-0140-y. PMID: 26468061.

Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Murray MF, Green RC, McGuire AL; MedSeq Project Team.. Are physicians prepared for whole genome sequencing? a qualitative analysis. Clin Genet. 2016 Feb;89(2):228-34. doi: 10.1111/cge.12626. PMID: 26080898.

Christensen KD, Roberts JS, Zikmund-Fisher BJ, Kardia SL, McBride CM, Linnenbringer E, Green RC; REVEAL Study Group.. Associations between self-referral and health behavior responses to genetic risk information. Genome Med. 2015 Jan 31;7(1):10. doi: 10.1186/s13073-014-0124-0. PMID: 25642295.

Cieslik M, Chugh R, Wu YM, Wu M, Brennan C, Lonigro R, Su F, Wang R, Siddiqui J, Mehra R, Cao X, Lucas D, Chinnaiyan AM, Robinson D. The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing. Genome Res. 2015 Sep;25(9):1372-81. doi: 10.1101/gr.189621.115. PMID: 26253700.

Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. PMID: 25920937.

Dauriz M, Porneala BC, Guo X, Bielak LF, Peyser PA, Durant NH, Carnethon MR, Bonadonna RC, Bonora E, Bowden DW, Florez JC, Fornage M, Hivert MF, Jacobs DR Jr, Kabagambe EK, Lewis CE, Murabito JM, Rasmussen-Torvik LJ, Rich SS, Vassy JL, Yao J, Carr JJ, et al. Association of a 62 Variants Type 2 Diabetes Genetic Risk Score With Markers of Subclinical Atherosclerosis: A Transethnic, Multicenter Study. Circ Cardiovasc Genet. 2015 Jun;8(3):507-15. doi: 10.1161/CIRCGENETICS.114.000740. PMID: 25805414.

De Castro M, Johnston J, Biesecker L. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med. 2015 Dec;17(12):1002-6. doi: 10.1038/gim.2015.9. PMID: 25741863.

Evans BJ, Burke W, Jarvik GP. The FDA and genomic tests--getting regulation right. N Engl J Med. 2015 Jun 4;372(23):2258-64. doi: 10.1056/NEJMsr1501194. No abstract available. PMID: 26014592.

Evans BJ. The Limits of FDA's Authority to Regulate Clinical Research Involving High-Throughput DNA Sequencing. Food Drug Law J. 2015;70(2):259-87, ii. PMID: 26302600.

Evans JP, Watson MS. Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine. JAMA. 2015 Feb 17;313(7):669-70. doi: 10.1001/jama.2014.18145. No abstract available. PMID: 25560537.

Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, Hisama FM, Pritchard CC, Grady WM, Burke W, Jarvik GP, Veenstra DL. Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis. J Clin Oncol. 2015 Jun 20;33(18):2084-91. doi: 10.1200/JCO.2014.59.3665. PMID: 25940718.

Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, et al. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available. PMID: 26154004.

Garrett JR. Beyond Harms and Benefits: Rethinking Duties to Disclose Misattributed Parentage. Hastings Cent Rep. 2015 Jul-Aug;45(4):37-8. doi: 10.1002/hast.472. No abstract available. PMID: 26152387.

Garrett JR. Collectivizing rescue obligations in bioethics. Am J Bioeth. 2015;15(2):3-11. doi: 10.1080/15265161.2014.990163. PMID: 25674948.

Gray SW, Cronin A, Bair E, Lindeman N, Viswanath V, Janeway KA. Marketing of personalized cancer care on the web: an analysis of Internet websites. J Natl Cancer Inst. 2015 Mar 5;107(5). pii: djv030. doi: 10.1093/jnci/djv030. PMID: 25745021.

Green RC, Lautenbach D, McGuire AL. GINA, genetic discrimination, and genomic medicine. N Engl J Med. 2015 Jan 29;372(5):397-9. doi: 10.1056/NEJMp1404776. No abstract available. PMID: 25629736.

Haase R, Michie M, Skinner D. Flexible positions, managed hopes: the promissory bioeconomy of a whole genome sequencing cancer study. Soc Sci Med. 2015 Apr;130:146-53. doi: 10.1016/j.socscimed.2015.02.016. PMID: 25697637.

Harms PW, Vats P, Verhaegen ME, Robinson DR, Wu YM, Dhanasekaran SM, Palanisamy N, Siddiqui J, Cao X, Su F, Wang R, Xiao H, Kunju LP, Mehra R, Tomlins SA, Fullen DR, Bichakjian CK, Johnson TM, Dlugosz AA, Chinnaiyan AM. The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma. Cancer Res. 2015 Sep 15;75(18):3720-7. doi: 10.1158/0008-5472.CAN-15-0702. PMID: 26238782.

Holm IA, Iles BR, Ziniel SI, Bacon PL, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL. Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. J Empir Res Hum Res Ethics. 2015 Oct;10(4):414-26. doi: 10.1177/1556264615599620. PMID: 26376753.

Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, SÃ©nÃ©cal K, Borry P; European Society of Human Genetics.; P3G International Paediatric Platform.; Human Genome Organisation; and the PHG Foundation.. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet. 2015 Dec;23(12):1593-600. doi: 10.1038/ejhg.2014.289. PMID: 25626707.

Janssens AC, Evans JP. Returning pharmacogenetic secondary findings from genome sequencing: let's not put the cart before the horse. Genet Med. 2015 Nov;17(11):854-6. doi: 10.1038/gim.2015.59. No abstract available. PMID: 25950734.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. PMID: 26046366.

Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J; Task Force for Neonatal Genomics., Davis EE, Sunyaev SR, Katsanis N. Identification of cis-suppression of human disease mutations by comparative genomics. Nature. 2015 Aug 13;524(7564):225-9. doi: 10.1038/nature14497. PMID: 26123021.

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. PMID: 25557259.

Khan CM, Moore EG, Leos C, Rini C. Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status. Eur J Hum Genet. 2016 Jun;24(6):803-8. doi: 10.1038/ejhg.2015.204. PMID: 26395557.

Khoury MJ, Evans JP. A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit. JAMA. 2015 Jun 2;313(21):2117-8. doi: 10.1001/jama.2015.3382. No abstract available. PMID: 26034952.

Krier JB, Green RC. Management of Incidental Findings in Clinical Genomic Sequencing. Curr Protoc Hum Genet. 2015 Oct 6;87:9.23.1-16. doi: 10.1002/0471142905.hg0923s87. PMID: 26439717.

Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S. High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. Am J Ophthalmol. 2015 Aug;160(2):354-363.e9. doi: 10.1016/j.ajo.2015.04.026. PMID: 25910913.

Lewis KL, Han PK, Hooker GW, Klein WM, Biesecker LG, Biesecker BB. Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology. PLoS One. 2015 Jul 17;10(7):e0132690. doi: 10.1371/journal.pone.0132690. PMID: 26186621.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, et al. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y. PMID: 26187847.

LÃ¡zaro-MuÃ±oz G, Conley JM, Davis AM, Van Riper M, Walker RL, Juengst ET. Looking for Trouble: Preventive Genomic Sequencing in the General Population and the Role of Patient Choice. Am J Bioeth. 2015;15(7):3-14. doi: 10.1080/15265161.2015.1039721. PMID: 26147254.

May T, Strong KA, Khoury MJ, Evans JP. Can targeted genetic testing offer useful health information to adoptees?. Genet Med. 2015 Jul;17(7):533-5. doi: 10.1038/gim.2015.58. No abstract available. PMID: 25905442.

McCullough LB, Brothers KB, Chung WK, Joffe S, Koenig BA, Wilfond B, Yu JH; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group.. Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. Pediatrics. 2015 Oct;136(4):e974-82. doi: 10.1542/peds.2015-0624. PMID: 26371191.

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project.. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1. PMID: 25714468.

Meisel SF, Carere DA, Wardle J, Kalia SS, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.. Explaining, not just predicting, drives interest in personal genomics. Genome Med. 2015 Aug 1;7(1):74. doi: 10.1186/s13073-015-0188-5. PMID: 26269719.

Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, Frank KM, Prensner JR, Asangani I, Palanisamy N, Dillman JR, Rabah RM, Kunju LP, Everett J, Raymond VM, Ning Y, Su F, Wang R, Stoffel EM, Innis JW, Roberts JS, Robertson PL, et al. Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. JAMA. 2015 Sep 1;314(9):913-25. doi: 10.1001/jama.2015.10080. PMID: 26325560.

Nishimura AA, Shirts BH, Dorschner MO, Amendola LM, Smith JW, Jarvik GP, Tarczy-Hornoch P. Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing. Genet Med. 2015 Nov;17(11):939-42. doi: 10.1038/gim.2015.5. PMID: 25741865.

Nishimura AA, Tarczy-Hornoch P, Shirts BH. Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record. Curr Genet Med Rep. 2014 Dec 1;2(4):201-211. PMID: 26146597.

Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, Mountain JL, Green RC, Roberts JS; PGen Study Group.. How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study. Public Health Genomics. 2015;18(4):216-24. doi: 10.1159/000431250. PMID: 26087778.

Park JH, Cho B, Kwon H, Prilutsky D, Yun JM, Choi HC, Hwang KB, Lee IH, Kim JI, Kong SW. I148M variant in PNPLA3 reduces central adiposity and metabolic disease risks while increasing nonalcoholic fatty liver disease. Liver Int. 2015 Dec;35(12):2537-46. doi: 10.1111/liv.12909. PMID: 26148225.

Regier DA, Peacock SJ, Pataky R, van der Hoek K, Jarvik GP, Hoch J, Veenstra D. Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment. CMAJ. 2015 Apr 7;187(6):E190-7. doi: 10.1503/cmaj.140697. PMID: 25754703.

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen.. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. No abstract available. PMID: 26014595.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. PMID: 25741868.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, FadÃ³ R, Harmison GH, Parodi S, Grunseich C, RenvoisÃ© B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, DÃ¼rr A, Brice A, Casals N, Traynor BJ, Blackstone C, et al. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. Erratum in: JAMA Neurol. 2015 May;72(5):608. PMID: 25751282.

Robinson CL, Jouni H, Kruisselbrink TM, Austin EE, Christensen KD, Green RC, Kullo IJ. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction. Clin Genet. 2016 Feb;89(2):251-7. doi: 10.1111/cge.12577. PMID: 25708169.

Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, et al. Integrative clinical genomics of advanced prostate cancer. Cell. 2015 May 21;161(5):1215-28. doi: 10.1016/j.cell.2015.05.001. Erratum in: Cell. 2015 Jul 16;162(2):454. PMID: 26000489.

Schneider JL, Goddard KA, Davis J, Wilfond B, Kauffman TL, Reiss JA, Gilmore M, Himes P, Lynch FL, Leo MC, McMullen C. Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening. J Genet Couns. 2016 Feb;25(1):135-45. doi: 10.1007/s10897-015-9851-7. PMID: 26093606.

Schneider JL, Davis J, Kauffman TL, Reiss JA, McGinley C, Arnold K, Zepp J, Gilmore M, Muessig KR, Syngal S, Acheson L, Wiesner GL, Peterson SK, Goddard KA. Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med. 2016 Feb;18(2):152-61. doi: 10.1038/gim.2015.43. PMID: 25880440.

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, et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. PMID: 26142422.

Taber JM, Klein WM, Ferrer RA, Lewis KL, Harris PR, Shepperd JA, Biesecker LG. Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback. Ann Behav Med. 2015 Aug;49(4):616-21. doi: 10.1007/s12160-014-9679-7. PMID: 25582989.

Taber JM, Klein WM, Ferrer RA, Han PK, Lewis KL, Biesecker LG, Biesecker BB. Perceived ambiguity as a barrier to intentions to learn genome sequencing results. J Behav Med. 2015 Oct;38(5):715-26. doi: 10.1007/s10865-015-9642-5. PMID: 26003053.

Tomlinson AN, Skinner D, Perry DL, Scollon SR, Roche MI, Bernhardt BA. Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing. J Genet Couns. 2016 Feb;25(1):62-72. doi: 10.1007/s10897-015-9842-8. PMID: 25911622.

Trinidad SB, Fullerton SM, Burke W. Looking for Trouble and Finding It. Am J Bioeth. 2015;15(7):15-7. doi: 10.1080/15265161.2015.1039731. No abstract available. PMID: 26147255.

Vassy JL, Christensen KD, Slashinski MJ, Lautenbach DM, Raghavan S, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Lehmann LS, Murray MF, Green RC, McGuire AL. 'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. Per Med. 2015;12(1):23-32. PMID: 25642274.

Vassy JL, McLaughlin HM, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Erratum in: Public Health Genomics. 2015 Apr;18(3):191. McLaughlin, Heather L [corrected to McLaughlin, Heather M]. PMID: 25612602.

Vassy JL, Korf BR, Green RC. How to know when physicians are ready for genomic medicine. Sci Transl Med. 2015 May 13;7(287):287fs19. doi: 10.1126/scitranslmed.aaa2401. PMID: 25971999.

Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. PMID: 25764212.

Wilfond BS, Goddard KA. It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Mol Genet Genomic Med. 2015 Jul;3(4):239-42. doi: 10.1002/mgg3.130. No abstract available. PMID: 26247041.

Wynn J, Martinez J, Duong J, Zhang Y, Phelan J, Fyer A, Klitzman R, Appelbaum PS, Chung WK. Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. J Genet Couns. 2015 Oct;24(5):833-41. doi: 10.1007/s10897-014-9817-1. PMID: 25592144.

Wynn J. Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing. J Genet Couns. 2016 Aug;25(4):691-7. doi: 10.1007/s10897-015-9868-y. PMID: 26242468.

Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec;62(6):1914-6. doi: 10.1002/hep.27872. No abstract available. PMID: 25921221.

2014

Berg JS, Foreman AKM, O'Daniel JM, Booker JK, Boshe L, Carye T, Crooks KR, Jensen JC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. PMID: 26270767. PMCID: 4752935.

Allen NL, Karlson EW, Malspeis S, Lu B, Seidman CE, Lehmann LS. Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project. Mayo Clin Proc. 2014 Jun;89(6):738-46. doi: 10.1016/j.mayocp.2014.03.015. PMID: 24943692.

Appelbaum PS, Parens E, Waldman CR, Klitzman R, Fyer A, Martinez J, Price WN 2nd, Chung WK. Models of consent to return of incidental findings in genomic research. Hastings Cent Rep. 2014 Jul-Aug;44(4):22-32. doi: 10.1002/hast.328. PMID: 24919982.

Appelbaum PS, Fyer A, Klitzman RL, Martinez J, Parens E, Zhang Y, Chung WK. Researchers' views on informed consent for return of secondary results in genomic research. Genet Med. 2015 Aug;17(8):644-50. doi: 10.1038/gim.2014.163. PMID: 25503499.

Arndt AK, MacRae CA. Genetic testing in cardiovascular diseases. Curr Opin Cardiol. 2014 May;29(3):235-40. doi: 10.1097/HCO.0000000000000055. Review. PMID: 24717670.

Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL. The cost-effectiveness of returning incidental findings from next-generation genomic sequencing. Genet Med. 2015 Jul;17(7):587-95. doi: 10.1038/gim.2014.156. PMID: 25394171.

Bernhardt B. Genetic counselors and the future of clinical genomics. Genome Med. 2014 Jul 2;6(7):49. doi: 10.1186/gm565. PMID: 25045402.

Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available. PMID: 25229935.

Blumenthal-Barby JS, McGuire AL, Ubel PA. Why information alone is not enough: behavioral economics and the future of genomic medicine. Ann Intern Med. 2014 Oct 21;161(8):605-6. doi: 10.7326/M14-2074. No abstract available. PMID: 25329206.

Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B; Bioethics and Legal Work Group of the Newborn Screening Translational Research Network.. Parental permission for pilot newborn screening research: guidelines from the NBSTRN. Pediatrics. 2014 Feb;133(2):e410-7. doi: 10.1542/peds.2013-2271. PMID: 24394680.

Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW. Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov;89(11):1471-80. doi: 10.1016/j.mayocp.2014.07.006. No abstract available. PMID: 25264176.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. PMID: 24667040.

Burke W, Evans BJ, Jarvik GP. Return of results: ethical and legal distinctions between research and clinical care. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):105-11. doi: 10.1002/ajmg.c.31393. PMID: 24616381.

Burke W, Appelbaum P, Dame L, Marshall P, Press N, Pyeritz R, Sharp R, Juengst E. The translational potential of research on the ethical, legal, and social implications of genomics. Genet Med. 2015 Jan;17(1):12-20. doi: 10.1038/gim.2014.74. Review. PMID: 24946153.

Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.. Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers. Genome Med. 2014 Dec 3;6(12):96. doi: 10.1186/s13073-014-0096-0. PMID: 25484922.

Clayton EW, McCullough LB, Biesecker LG, Joffe S, Ross LF, Wolf SM; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group.. Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth. 2014;14(3):3-9. doi: 10.1080/15265161.2013.879945. PMID: 24592828.

Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, Fullerton SM, Tarczy-Hornoch P, Byers PH, Jarvik GP. Refining the structure and content of clinical genomic reports. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. PMID: 24616401.

Eckstein L, Garrett JR, Berkman BE. A framework for analyzing the ethics of disclosing genetic research findings. J Law Med Ethics. 2014 Summer;42(2):190-207. doi: 10.1111/jlme.12135. PMID: 25040383.

Evans BJ. Economic regulation of next-generation sequencing. J Law Med Ethics. 2014 Fall;42 Suppl 1:51-66. doi: 10.1111/jlme.12162. PMID: 25298291.

Evans BJ, Dorschner MO, Burke W, Jarvik GP. Regulatory changes raise troubling questions for genomic testing. Genet Med. 2014 Nov;16(11):799-803. doi: 10.1038/gim.2014.127. PMID: 25255365.

Evans BJ. The First Amendment Right to Speak About the Human Genome. Univ Pa J Const Law. 2014 Feb 1;16(3):549-636. PMID: 25473380.

Everett JN, Gustafson SL, Raymond VM. Traditional roles in a non-traditional setting: genetic counseling in precision oncology. J Genet Couns. 2014 Aug;23(4):655-60. doi: 10.1007/s10897-014-9698-3. PMID: 24578120.

Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. No abstract available. PMID: 24509643.

Ferrer RA, Taber JM, Klein WM, Harris PR, Lewis KL, Biesecker LG. The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information. Cogn Emot. 2015;29(8):1456-65. doi: 10.1080/02699931.2014.985188. PMID: 25482843.

Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL. Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Contemp Clin Trials. 2014 Sep;39(1):1-8. doi: 10.1016/j.cct.2014.06.016. PMID: 24997220.

Garralda E, Paz K, LÃ³pez-Casas PP, Jones S, Katz A, Kann LM, LÃ³pez-Rios F, Sarno F, Al-Shahrour F, Vasquez D, Bruckheimer E, Angiuoli SV, Calles A, Diaz LA, Velculescu VE, Valencia A, Sidransky D, Hidalgo M. Integrated next-generation sequencing and avatar mouse models for personalized cancer treatment. Clin Cancer Res. 2014 May 1;20(9):2476-84. doi: 10.1158/1078-0432.CCR-13-3047. PMID: 24634382.

Gray SW, Hicks-Courant K, Cronin A, Rollins BJ, Weeks JC. Physicians' attitudes about multiplex tumor genomic testing. J Clin Oncol. 2014 May 1;32(13):1317-23. doi: 10.1200/JCO.2013.52.4298. PMID: 24663044.

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.. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Review. PMID: 24625446.

Green RC, Christensen KD, Cupples LA, Relkin NR, Whitehouse PJ, Royal CD, Obisesan TO, Cook-Deegan R, Linnenbringer E, Butson MB, Fasaye GA, Levinson E, Roberts JS; REVEAL Study Group.. A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease. Alzheimers Dement. 2015 Oct;11(10):1222-30. doi: 10.1016/j.jalz.2014.10.014. PMID: 25499536.

Hardart GE, Chung WK. Genetic testing of children for diseases that have onset in adulthood: the limits of family interests. Pediatrics. 2014 Oct;134 Suppl 2:S104-10. doi: 10.1542/peds.2014-1394F. PMID: 25274875.

Henderson GE, Wolf SM, Kuczynski KJ, Joffe S, Sharp RR, Parsons DW, Knoppers BM, Yu JH, Appelbaum PS. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations. J Law Med Ethics. 2014 Fall;42(3):344-55. doi: 10.1111/jlme.12151. PMID: 25264092.

Hivert MF, Vassy JL, Meigs JB. Susceptibility to type 2 diabetes mellitus--from genes to prevention. Nat Rev Endocrinol. 2014 Apr;10(4):198-205. doi: 10.1038/nrendo.2014.11. Review. PMID: 24535206.

Holm IA. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 1;2(4):212-215. PMID: 25396100.

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. Genet Med. 2014 Jul;16(7):547-52. doi: 10.1038/gim.2013.190. PMID: 24406460.

Hwang KB, Lee IH, Park JH, Hambuch T, Choe Y, Kim M, Lee K, Song T, Neu MB, Gupta N, Kohane IS, Green RC, Kong SW. Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods. Hum Mutat. 2014 Aug;35(8):936-44. doi: 10.1002/humu.22587. PMID: 24829188.

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, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. PMID: 24814192.

Khan CM, Rini C, Bernhardt BA, Roberts JS, Christensen KD, Evans JP, Brothers KB, Roche MI, Berg JS, Henderson GE. How can psychological science inform research about genetic counseling for clinical genomic sequencing?. J Genet Couns. 2015 Apr;24(2):193-204. doi: 10.1007/s10897-014-9804-6. Erratum in: J Genet Couns. 2015 Apr;24(2):372. PMID: 25488723.

Koay PP, Sharp RR. Managing Expectational Language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies. New Genet Soc. 2014 Jun 1;33(2):126-148. No abstract available. PMID: 24883042.

Kocarnik JM, Fullerton SM. Returning pleiotropic results from genetic testing to patients and research participants. JAMA. 2014 Feb 26;311(8):795-6. doi: 10.1001/jama.2014.369. No abstract available. PMID: 24481117.

Koenig BA. Have we asked too much of consent?. Hastings Cent Rep. 2014 Jul-Aug;44(4):33-4. doi: 10.1002/hast.329. No abstract available. PMID: 25043364.

Kohane IS. An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders. Biol Psychiatry. 2015 Jan 1;77(1):59-65. doi: 10.1016/j.biopsych.2014.05.024. Review. PMID: 25034947.

Kong SW, Lee IH, Leshchiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA; MedSeq Project.. Summarizing polygenic risks for complex diseases in a clinical whole-genome report. Genet Med. 2015 Jul;17(7):536-44. doi: 10.1038/gim.2014.143. PMID: 25341114.

Lee IH, Lee K, Hsing M, Choe Y, Park JH, Kim SH, Bohn JM, Neu MB, Hwang KB, Green RC, Kohane IS, Kong SW. Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline. Hum Mutat. 2014 May;35(5):537-47. doi: 10.1002/humu.22520. PMID: 24478219.

Lewis MH. Newborn screening controversy: past, present, and future. JAMA Pediatr. 2014 Mar;168(3):199-200. doi: 10.1001/jamapediatrics.2013.4980. No abstract available. PMID: 24395113.

MacRae CA, Vasan RS. Clinically relevant functional annotation of genotype. Circ Cardiovasc Genet. 2014 Feb;7(1):2-3. doi: 10.1161/CIRCGENETICS.114.000506. No abstract available. PMID: 24550428.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics. 2014 Jul 21;15:248. doi: 10.1186/1471-2105-15-248. PMID: 25047600.

McGowan ML, Glinka A, Highland J, Asaad G, Sharp RR. Genetics patients' perspectives on clinical genomic testing. Per Med. 2013 Jun 1;10(4):339-347. PMID: 24955098.

McGuire AL, Knoppers BM, Zawati MH, Clayton EW. Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings. Genome Res. 2014 May;24(5):719-23. doi: 10.1101/gr.170514.113. PMID: 24676095.

Murray MF. Educating physicians in the era of genomic medicine. Genome Med. 2014 Jun 27;6(6):45. doi: 10.1186/gm564. PMID: 25031626.

Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014 Jul 20;32(21):2203-5. doi: 10.1200/JCO.2013.54.8917. No abstract available. PMID: 24958819.

Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, LÃ³pez-Terrada D, Parsons DW, Roy A. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr;28(4):575-86. doi: 10.1038/modpathol.2014.139. PMID: 25360585.

Poggesi C, Ho CY. Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?. J Muscle Res Cell Motil. 2014 Feb;35(1):37-45. doi: 10.1007/s10974-014-9374-0. Review. PMID: 24493262.

Prince AE, Roche MI. Genetic information, non-discrimination, and privacy protections in genetic counseling practice. J Genet Couns. 2014 Dec;23(6):891-902. doi: 10.1007/s10897-014-9743-2. PMID: 25063358.

Prince AE, Berg JS, Evans JP, Jonas DE, Henderson G. Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews. Genet Med. 2015 Jun;17(6):441-3. doi: 10.1038/gim.2014.129. Review. No abstract available. PMID: 25232850.

Ross LF. Predictive genetic testing of children and the role of the best interest standard. J Law Med Ethics. 2013 Winter;41(4):899-906, Table of Contents. doi: 10.1111/jlme.12099. PMID: 24446947.

Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, Mulvihill JJ, Watson M, Herman GE, Evans J. Reporting genomic secondary findings: ACMG members weigh in. Genet Med. 2015 Jan;17(1):27-35. doi: 10.1038/gim.2014.165. PMID: 25394173.

Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014 Sep 17;6(9):69. doi: 10.1186/s13073-014-0069-3. PMID: 25317207.

Sparks JA, Iversen MD, Miller Kroouze R, Mahmoud TG, Triedman NA, Kalia SS, Atkinson ML, Lu B, Deane KD, Costenbader KH, Green RC, Karlson EW. Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives. Contemp Clin Trials. 2014 Sep;39(1):145-57. doi: 10.1016/j.cct.2014.08.007. PMID: 25151341.

Taber JM, Klein WM, Ferrer RA, Lewis KL, Biesecker LG, Biesecker BB. Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results. Health Psychol. 2015 Jul;34(7):718-28. doi: 10.1037/hea0000159. PMID: 25313897.

Teutsch SM, Fielding JE, Khoury MJ, Evans JP. Utility before business. Genet Med. 2014 Dec;16(12):869-70. doi: 10.1038/gim.2014.71. No abstract available. PMID: 25010054.

Triedman JK, MacRae C. Searching for a Rosetta Stone: genetic data and clinical patient management. Heart Rhythm. 2014 Oct;11(10):1714-5. doi: 10.1016/j.hrthm.2014.07.023. No abstract available. PMID: 25046859.

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, et al. Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma. Cancer Discov. 2014 Oct;4(10):1140-53. doi: 10.1158/2159-8290.CD-14-0623. PMID: 25096233.

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, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014 Jun;20(6):682-8. doi: 10.1038/nm.3559. PMID: 24836576.

Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. PMID: 24520119.

Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project.. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85. PMID: 24645908.

Wagner JK, Mozersky JT, Pyeritz RE. Use it or lose it" as an alternative approach to protect genetic privacy in personalized medicine. Urol Oncol. 2014 Feb;32(2):198-201. doi: 10.1016/j.urolonc.2013.09.016. No abstract available. PMID: 24445287.

Waisbren SE, BÃ¤ck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun;17(6):501-4. doi: 10.1038/gim.2014.139. PMID: 25474344.

Walford GA, Porneala BC, Dauriz M, Vassy JL, Cheng S, Rhee EP, Wang TJ, Meigs JB, Gerszten RE, Florez JC. Metabolite traits and genetic risk provide complementary information for the prediction of future type 2 diabetes. Diabetes Care. 2014 Sep;37(9):2508-14. doi: 10.2337/dc14-0560. PMID: 24947790.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. PMID: 24791903.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635.

Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet. 2014 Jul 3;95(1):77-84. doi: 10.1016/j.ajhg.2014.06.004. PMID: 24975944.

Zawati MH, Parry D, Knoppers BM. The best interests of the child and the return of results in genetic research: international comparative perspectives. BMC Med Ethics. 2014 Oct 4;15:72. doi: 10.1186/1472-6939-15-72. PMID: 25280986.

Zhang Z, Leipzig J, Sasson A, Yu AM, Perin JC, Xie HM, Sarmady M, Warren PV, White PS. Efficient digest of high-throughput sequencing data in a reproducible report. BMC Bioinformatics. 2013;14 Suppl 11:S3. doi: 10.1186/1471-2105-14-S11-S3. PMID: 24564231.

Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. Parents' preferences for return of results in pediatric genomic research. Public Health Genomics. 2014;17(2):105-14. doi: 10.1159/000358539. PMID: 24642506.

2013

Evans BJ, Dorschner MO, Burke W, Jarvik GP. Regulatory changes raise troubling questions for genomic testing. Genet Med. 2014 Sep 25. doi: 10.1038/gim.2014.127. PMID: 25255365.

Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS. A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project. AMIA Annu Symp Proc. 2014 Nov 14;2014:944-53. PMID: 25954402.

Raghavan S, Vassy JL. Do physicians think genomic medicine will be useful for patient care?. Per Med. 2014;11(4):424-433. PMID: 26161114.

Adams SD, Evans JP, Aylsworth AS. Direct-to-consumer genomic testing offers little clinical utility but appears to cause minimal harm. N C Med J. 2013 Nov-Dec;74(6):494-8. PMID: 24316774.

Appelbaum PS, Waldman CR, Fyer A, Klitzman R, Parens E, Martinez J, Price WN 2nd, Chung WK. Informed consent for return of incidental findings in genomic research. Genet Med. 2014 May;16(5):367-73. doi: 10.1038/gim.2013.145. PMID: 24158054.

Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med. 2013 Nov;15(11):873-81. doi: 10.1038/gim.2013.63. PMID: 23722871.

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.. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Review. Erratum in: Genet Med. 2014 Feb;16(2):203. PMID: 24195999.

Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Recommendations for returning genomic incidental findings? We need to talk!. Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Review. PMID: 23907645.

Caulfield T, Evans J, McGuire A, McCabe C, Bubela T, Cook-Deegan R, Fishman J, Hogarth S, Miller FA, Ravitsky V, Biesecker B, Borry P, Cho MK, Carroll JC, Etchegary H, Joly Y, Kato K, Lee SS, Rothenberg K, Sankar P, Szego MJ, Ossorio P, et al. Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate. PLoS Biol. 2013 Nov;11(11):e1001699. doi: 10.1371/journal.pbio.1001699. PMID: 24223516.

Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod. 2013 Jun;28(6):1725-30. doi: 10.1093/humrep/det091. PMID: 23589535.

Clayton EW, Haga S, Kuszler P, Bane E, Shutske K, Burke W. Managing incidental genomic findings: legal obligations of clinicians. Genet Med. 2013 Aug;15(8):624-9. doi: 10.1038/gim.2013.7. PMID: 23448723.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, andÂ Blood Institute Grand Opportunity Exome Sequencing Project., Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. PMID: 24055113.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257. PMID: 24033266.

Edwards T, Cadigan RJ, Evans JP, Henderson GE. Biobanks containing clinical specimens: defining characteristics, policies, and practices. Clin Biochem. 2014 Mar;47(4-5):245-51. doi: 10.1016/j.clinbiochem.2013.11.023. PMID: 24345347.

Evans BJ. Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Dec;15(12):915-20. doi: 10.1038/gim.2013.135. PMID: 24030435.

Evans BJ. Mining the human genome after Association for Molecular Pathology v. Myriad Genetics. Genet Med. 2014 Jul;16(7):504-9. doi: 10.1038/gim.2013.186. PMID: 24357850.

Facio FM, Lee K, O'Daniel JM. A genetic counselor's guide to using next-generation sequencing in clinical practice. J Genet Couns. 2014 Aug;23(4):455-62. doi: 10.1007/s10897-013-9662-7. PMID: 24151055.

Foreman AK, Lee K, Evans JP. The NCGENES project: exploring the new world of genome sequencing. N C Med J. 2013 Nov-Dec;74(6):500-4. PMID: 24316776.

Garrett JR. Reframing the ethical debate regarding incidental findings in genetic research. Am J Bioeth. 2013;13(2):44-6. doi: 10.1080/15265161.2013.757972. No abstract available. PMID: 23391061.

Grady WM, Pritchard CC. Molecular alterations and biomarkers in colorectal cancer. Toxicol Pathol. 2014 Jan;42(1):124-39. doi: 10.1177/0192623313505155. Review. PMID: 24178577.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. PMID: 23788249.

Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 Jul 24;310(4):365-6. doi: 10.1001/jama.2013.41703. No abstract available. PMID: 23917280.

Hartzler A, McCarty CA, Rasmussen LV, Williams MS, Brilliant M, Bowton EA, Clayton EW, Faucett WA, Ferryman K, Field JR, Fullerton SM, Horowitz CR, Koenig BA, McCormick JB, Ralston JD, Sanderson SC, Smith ME, Trinidad SB. Stakeholder engagement: a key component of integrating genomic information into electronic health records. Genet Med. 2013 Oct;15(10):792-801. doi: 10.1038/gim.2013.127. Review. PMID: 24030437.

Hazin R, Brothers KB, Malin BA, Koenig BA, Sanderson SC, Rothstein MA, Williams MS, Clayton EW, Kullo IJ. Ethical, legal, and social implications of incorporating genomic information into electronic health records. Genet Med. 2013 Oct;15(10):810-6. doi: 10.1038/gim.2013.117. Review. PMID: 24030434.

Johannessen CM, Johnson LA, Piccioni F, Townes A, Frederick DT, Donahue MK, Narayan R, Flaherty KT, Wargo JA, Root DE, Garraway LA. A melanocyte lineage program confers resistance to MAP kinase pathway inhibition. Nature. 2013 Dec 5;504(7478):138-42. doi: 10.1038/nature12688. PMID: 24185007.

Jonas DE, Evans JP, McLeod HL, Brode S, Lange LA, Young ML, Shilliday BB, Bardsley MM, Swinton-Jenkins NJ, Weck KE. Impact of genotype-guided dosing on anticoagulation visits for adults starting warfarin: a randomized controlled trial. Pharmacogenomics. 2013 Oct;14(13):1593-603. doi: 10.2217/pgs.13.145. PMID: 24088130.

Klitzman R, Buquez B, Appelbaum PS, Fyer A, Chung WK. Processes and factors involved in decisions regarding return of incidental genomic findings in research. Genet Med. 2014 Apr;16(4):311-7. doi: 10.1038/gim.2013.140. PMID: 24071801.

Klitzman R, Appelbaum PS, Fyer A, Martinez J, Buquez B, Wynn J, Waldman CR, Phelan J, Parens E, Chung WK. Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med. 2013 Nov;15(11):888-95. doi: 10.1038/gim.2013.87. PMID: 23807616.

Klitzman R, Appelbaum PS, Chung W. Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA. 2013 Jul 24;310(4):369-70. doi: 10.1001/jama.2013.41709. No abstract available. PMID: 23917282.

Krier JB, Green RC. Management of incidental findings in clinical genomic sequencing. Curr Protoc Hum Genet. 2013;Chapter 9:Unit9.23. doi: 10.1002/0471142905.hg0923s77. PMID: 23595601.

Lautenbach DM, Christensen KD, Sparks JA, Green RC. Communicating genetic risk information for common disorders in the era of genomic medicine. Annu Rev Genomics Hum Genet. 2013;14:491-513. doi: 10.1146/annurev-genom-092010-110722. Review. PMID: 24003856.

Levenseller BL, Soucier DJ, Miller VA, Harris D, Conway L, Bernhardt BA. Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent. J Genet Couns. 2014 Aug;23(4):552-65. doi: 10.1007/s10897-013-9626-y. PMID: 23846343.

Lewis MH. Laboratory specimens and genetic privacy: evolution of legal theory. J Law Med Ethics. 2013 Mar;41 Suppl 1:65-8. doi: 10.1111/jlme.12042. PMID: 23590744.

MacRae CA. Mendelian forms of structural cardiovascular disease. Curr Cardiol Rep. 2013 Oct;15(10):399. doi: 10.1007/s11886-013-0399-6. Review. PMID: 24046092.

McGowan ML, Cho D, Sharp RR. The changing landscape of carrier screening: expanding technology and options?. Health Matrix Clevel. 2013 Spring;23(1):15-33. No abstract available. PMID: 23808097.

McGuire AL, Wang MJ, Probst FJ. Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements. J Law Med Ethics. 2012 Winter;40(4):1040-6. doi: 10.1111/j.1748-720X.2012.00731.x. No abstract available. PMID: 23289705.

McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, Caulfield T, Terry SF, Green RC. Point-counterpoint. Ethics and genomic incidental findings. Science. 2013 May 31;340(6136):1047-8. doi: 10.1126/science.1240156. No abstract available. PMID: 23686340.

McGuire AL, Robinson JO, Ramoni RB, Morley DS, Jofe S, Plon SE. Returning genetic research results: study type matters. Per Med. 2013 Jan;10(1):27-34. PMID: 24077424.

McGuire AL, McCullough LB, Evans JP. The indispensable role of professional judgment in genomic medicine. JAMA. 2013 Apr 10;309(14):1465-6. doi: 10.1001/jama.2013.1438. No abstract available. PMID: 23571582.

Overby CL, Kohane I, Kannry JL, Williams MS, Starren J, Bottinger E, Gottesman O, Denny JC, Weng C, Tarczy-Hornoch P, Hripcsak G. Opportunities for genomic clinical decision support interventions. Genet Med. 2013 Oct;15(10):817-23. doi: 10.1038/gim.2013.128. No abstract available. PMID: 24051479.

Parens E, Appelbaum P, Chung W. Incidental findings in the era of whole genome sequencing?. Hastings Cent Rep. 2013 Jul-Aug;43(4):16-9. doi: 10.1002/hast.189. No abstract available. PMID: 23842918.

Peterson D, Munger C, Crowley J, Corcoran C, Cruchaga C, Goate AM, Norton MC, Green RC, Munger RG, Breitner JC, Welsh-Bohmer KA, Lyketsos C, Tschanz J, Kauwe JS; Alzheimer's Disease Neuroimaging Initiative.. Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study. Alzheimers Dement. 2014 May;10(3):366-71. doi: 10.1016/j.jalz.2013.02.010. PMID: 23727081.

Ramoni RB, McGuire AL, Robinson JO, Morley DS, Plon SE, Joffe S. Experiences and attitudes of genome investigators regarding return of individual genetic test results. Genet Med. 2013 Nov;15(11):882-7. doi: 10.1038/gim.2013.58. PMID: 23639901.

Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee.. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. PMID: 23887774.

Robinson DR, Wu YM, Vats P, Su F, Lonigro RJ, Cao X, Kalyana-Sundaram S, Wang R, Ning Y, Hodges L, Gursky A, Siddiqui J, Tomlins SA, Roychowdhury S, Pienta KJ, Kim SY, Roberts JS, Rae JM, Van Poznak CH, Hayes DF, Chugh R, Kunju LP, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat Genet. 2013 Dec;45(12):1446-51. doi: 10.1038/ng.2823. PMID: 24185510.

Ross LF, Rothstein MA, Clayton EW. Premature guidance about whole-genome sequencing. Per Med. 2013 Aug 1;10(6). doi: 10.2217/pme.13.51. No abstract available. PMID: 24348686.

Shirts BH, Jacobson A, Jarvik GP, Browning BL. Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes. Genet Med. 2014 Jul;16(7):529-34. doi: 10.1038/gim.2013.187. PMID: 24357849.

Shulman MB, Harkins K, Green RC, Karlawish J. Using AD biomarker research results for clinical care: a survey of ADNI investigators. Neurology. 2013 Sep 24;81(13):1114-21. doi: 10.1212/WNL.0b013e3182a55f4a. PMID: 23966249.

Sunyaev SR, Roth FP. Systems biology and the analysis of genetic variation. Curr Opin Genet Dev. 2013 Dec;23(6):599-601. doi: 10.1016/j.gde.2013.11.010. No abstract available. PMID: 24291212.

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. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. PMID: 24071794.

Vassy JL, Green RC, Lehmann LS. Genomic medicine in primary care: barriers and assets. Postgrad Med J. 2013 Nov;89(1057):615-6. doi: 10.1136/postgradmedj-2013-132093. No abstract available. PMID: 24129030.

Wang C, Gordon ES, Stack CB, Liu CT, Norkunas T, Wawak L, Christman MF, Green RC, Bowen DJ. A randomized trial of the clinical utility of genetic testing for obesity: design and implementation considerations. Clin Trials. 2014 Feb;11(1):102-13. doi: 10.1177/1740774513508029. PMID: 24216219.

Wolf SM, Annas GJ, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science. 2013 May 31;340(6136):1049-50. doi: 10.1126/science.1239119. No abstract available. PMID: 23686341.

Wolf SM. Return of individual research results and incidental findings: facing the challenges of translational science. Annu Rev Genomics Hum Genet. 2013;14:557-77. doi: 10.1146/annurev-genom-091212-153506. Review. PMID: 23875796.

Wolf SM. Return of results in genomic biobank research: ethics matters. Genet Med. 2013 Feb;15(2):157-9. doi: 10.1038/gim.2012.162. No abstract available. PMID: 23386184.

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, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. PMID: 24088041.

Yu JH, Jamal SM, Tabor HK, Bamshad MJ. Self-guided management of exome and whole-genome sequencing results: changing the results return model. Genet Med. 2013 Sep;15(9):684-90. doi: 10.1038/gim.2013.35. PMID: 23619276.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. PMID: 23665959.

2012

Beaudet AL. Neuroscience. Preventable forms of autism?. Science. 2012 Oct 19;338(6105):342-3. doi: 10.1126/science.1229178. No abstract available. PMID: 23087240.

Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R. Next-generation sequencing in the clinic: are we ready?. Nat Rev Genet. 2012 Nov;13(11):818-24. doi: 10.1038/nrg3357. Review. PMID: 23076269.

Botkin JR, Goldenberg AJ, Rothwell E, Anderson RA, Lewis MH. Retention and research use of residual newborn screening bloodspots. Pediatrics. 2013 Jan;131(1):120-7. doi: 10.1542/peds.2012-0852. Review. PMID: 23209103.

Fullerton SM, Trinidad SB, Jarvik GP, Burke W. Beneficence, clinical urgency, and the return of individual research results to relatives. Am J Bioeth. 2012;12(10):9-10. doi: 10.1080/15265161.2012.699153. No abstract available. PMID: 22974018.

Goldenberg AJ, Sharp RR. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA. 2012 Feb 1;307(5):461-2. doi: 10.1001/jama.2012.68. No abstract available. PMID: 22298675.

Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. PMID: 22422049.

Lewis MH, Scheurer ME, Green RC, McGuire AL. Research results: preserving newborn blood samples. Sci Transl Med. 2012 Nov 7;4(159):159cm12. doi: 10.1126/scitranslmed.3004474. PMID: 23136040.

Madeo AC, O'Brien KE, Bernhardt BA, Biesecker BB. Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions. Am J Med Genet A. 2012 Aug;158A(8):1877-84. doi: 10.1002/ajmg.a.35425. PMID: 22711240.

Song T, Hwang KB, Hsing M, Lee K, Bohn J, Kong SW. gSearch: a fast and flexible general search tool for whole-genome sequencing. Bioinformatics. 2012 Aug 15;28(16):2176-7. doi: 10.1093/bioinformatics/bts358. PMID: 22730434.

Uhlmann WR, Sharp RR. Genetic testing integration panels (GTIPs): a novel approach for considering integration of direct-to-consumer and other new genetic tests into patient care. J Genet Couns. 2012 Jun;21(3):374-81. doi: 10.1007/s10897-011-9468-4. PMID: 22246561.

Veenstra DL, Piper M, Haddow JE, Pauker SG, Klein R, Richards CS, Tunis SR, Djulbegovic B, Marrone M, Lin JS, Berg AO, Calonge N. Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet Med. 2013 Jan;15(1):14-24. doi: 10.1038/gim.2012.106. Review. PMID: 22955111.

2011

Wolf SM. The Role of Law in the Debate over Return of Research Results and Incidental Findings: The Challenge of Developing Law for Translational Science. Minn J Law Sci Technol. 2012;13(2). doi: 10.2139/ssrn.2117289. No abstract available. PMID: 24379751.

2010

National Heart, Lung, and Blood Institute working group., Fabsitz RR, McGuire A, Sharp RR, Puggal M, Beskow LM, Biesecker LG, Bookman E, Burke W, Burchard EG, Church G, Clayton EW, Eckfeldt JH, Fernandez CV, Fisher R, Fullerton SM, Gabriel S, Gachupin F, James C, Jarvik GP, Kittles R, Leib JR, et al. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet. 2010 Dec;3(6):574-80. doi: 10.1161/CIRCGENETICS.110.958827. PMID: 21156933.

2009

Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet Med. 2009 Aug;11(8):570-4. doi: 10.1097/GIM.0b013e3181a2743e. PMID: 19478683.