Publications

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.

2016

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.

Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS, Green RC. Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genet Med. 2016 Sep;18(9):924-32. doi: 10.1038/gim.2015.192. PMID: 26820063.

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.

Beck TF, Mullikin JC; NISC Comparative Sequencing Program., Biesecker LG. Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants. Clin Chem. 2016 Apr;62(4):647-54. doi: 10.1373/clinchem.2015.249623. PMID: 26847218.

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.

Biesecker LG. Overcalling secondary findings. Genet Med. 2016 Apr;18(4):416. doi: 10.1038/gim.2016.19. No abstract available. PMID: 26986879.

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.

Christensen KD, Roberts JS, Whitehouse PJ, Royal CD, Obisesan TO, Cupples LA, Vernarelli JA, Bhatt DL, Linnenbringer E, Butson MB, Fasaye GA, Uhlmann WR, Hiraki S, Wang N, Cook-Deegan R, Green RC; REVEAL Study Group*. Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial. Ann Intern Med. 2016 Feb 2;164(3):155-63. doi: 10.7326/M15-0187. Epub 2016 Jan 26. PMID: 26810768.

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.

Evans JP, Wilhelmsen KC, Berg J, Schmitt CP, Krishnamurthy A, Fecho K, Ahalt SC. A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine. EGEMS (Wash DC). 2016 Apr 19;4(1):1198. doi: 10.13063/2327-9214.1198. PMID: 27195307.

Everett JN, Mody RJ, Stoffel EM, Chinnaiyan AM. Incorporating genetic counseling into clinical care for children and adolescents with cancer. Future Oncol. 2016 Apr;12(7):883-6. doi: 10.2217/fon-2015-0022. No abstract available. PMID: 26888175.

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.

Gray SW, Park ER, Najita J, Martins Y, Traeger L, Bair E, Gagne J, Garber J, JÌ_nne PA, Lindeman N, Lowenstein C, Oliver N, Sholl L, Van Allen EM, Wagle N, Wood S, Garraway L, Joffe S. Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study. Genet Med. 2016 Oct;18(10):1011-9. doi: 10.1038/gim.2015.207. PMID: 26866579.

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.

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.

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.

Hingorani P, Janeway K, Crompton BD, Kadoch C, Mackall CL, Khan J, Shern JF, Schiffman J, Mirabello L, Savage SA, Ladanyi M, Meltzer P, Bult CJ, Adamson PC, Lupo PJ, Mody R, DuBois SG, Parsons DW, Khanna C, Lau C, Hawkins DS, Randall RL, et al. Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop. Cancer Genet. 2016 May;209(5):182-94. doi: 10.1016/j.cancergen.2016.03.004. Epub 2016 Apr 5. Review. PMID: 27132463.

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.

Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS. Generating a taxonomy for genetic conditions relevant to reproductive planning. Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513. PMID: 26889673.

Krier J, Barfield R, Green RC, Kraft P. Reclassification of genetic-based risk predictions as GWAS data accumulate. Genome Med. 2016 Feb 17;8(1):20. doi: 10.1186/s13073-016-0272-5. PMID: 26884246.

Kullo IJ, Jouni H, Austin EE, Brown SA, Kruisselbrink TM, Isseh IN, Haddad RA, Marroush TS, Shameer K, Olson JE, Broeckel U, Green RC, Schaid DJ, Montori VM, Bailey KR. Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial). Circulation. 2016 Mar 22;133(12):1181-8. doi: 10.1161/CIRCULATIONAHA.115.020109. PMID: 26915630.

Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA. Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. Am J Med Genet A. 2016 Mar;170(3):574-82. doi: 10.1002/ajmg.a.37477. Epub 2016 Jan 21. PMID: 26792268.

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.

Linderman MD, Nielsen DE, Green RC. Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium. J Pers Med. 2016 Mar 25;6(2). pii: E14. doi: 10.3390/jpm6020014. Review. PMID: 27023617.

Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL; MedSeq Project team.. Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. Per Med. 2016 Jan 1;13(1):13-20. PMID: 27019659.

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.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, LÌ_pez-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, et al. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 Jan 28. doi: 10.1001/jamaoncol.2015.5699. [Epub ahead of print]. PMID: 26822237.

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.

Rehm HL, Hynes E, Funke BH. The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers. J Pers Med. 2016 Jan 27;6(1). pii: E8. doi: 10.3390/jpm6010008. PMID: 26828522.

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.

Robinson JO, Carroll TM, Feuerman LZ, Perry DL, Hoffman-Andrews L, Walsh RC, Christensen KD, Green RC, McGuire AL; MedSeq Project Team.. Participants and Study Decliners' Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing. J Empir Res Hum Res Ethics. 2016 Feb;11(1):21-30. doi: 10.1177/1556264615624078. PMID: 26928896.

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.

Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. PMID: 27538589.

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.

Tsai EA, Shakbatyan R, Evans J, Rossetti P, Graham C, Sharma H, Lin CF, Lebo MS. Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. J Pers Med. 2016 Feb 27;6(1). pii: E12. doi: 10.3390/jpm6010012. PMID: 26927186.

Vassy JL, Bates DW, Murray MF. Appropriateness: A Key to Enabling the Use of Genomics in Clinical Practice?. Am J Med. 2016 Jun;129(6):551-3. doi: 10.1016/j.amjmed.2016.02.010. No abstract available. PMID: 26965302.

Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC. Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns. Pediatrics. 2016 Jan;137 Suppl 1:S30-5. doi: 10.1542/peds.2015-3731G. PMID: 26729701.

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.

2015

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.

Adams MC, Evans JP, Henderson GE, Berg JS. The promise and peril of genomic screening in the general population. Genet Med. 2015 Nov 5. doi: 10.1038/gim.2015.136. [Epub ahead of print]. PMID: 26540154.

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.

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. Illustrative case studies in the return of exome and genome sequencing results. Per Med. 2015;12(3):283-295. PMID: 26478737.

Amendola LM, Horike-Pyne M, Trinidad SB, Fullerton SM, Evans BJ, Burke W, Jarvik GP. Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death. J Law Med Ethics. 2015 Fall;43(3):476-85. doi: 10.1111/jlme.12290. PMID: 26479557.

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.

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2015 Aug 13. doi: 10.1038/gim.2015.104. [Epub ahead of print]. PMID: 26270767.

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.

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.

Beskow LM, O'Rourke PP. Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles. J Law Med Ethics. 2015 Fall;43(3):502-13. doi: 10.1111/jlme.12292. PMID: 26479559.

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.

Bonora M, Wieckowsk MR, Chinopoulos C, Kepp O, Kroemer G, Galluzzi L, Pinton P. Molecular mechanisms of cell death: central implication of ATP synthase in mitochondrial permeability transition. Oncogene. 2015 Mar 19;34(12):1608. doi: 10.1038/onc.2014.462. PMID: 25790189.

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.

Branum R, Wolf SM. International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access. J Law Med Ethics. 2015 Fall;43(3):576-93. doi: 10.1111/jlme.12301. PMID: 26479568.

Breitkopf CR, Petersen GM, Wolf SM, Chaffee KG, Robinson ME, Gordon DR, Lindor NM, Koenig BA. Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank. J Law Med Ethics. 2015 Fall;43(3):464-75. doi: 10.1111/jlme.12289. PMID: 26479556.

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

Brothers KB, Holm IA, Childerhose JE, Antommaria AH, 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. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan;168:226-31.e1. doi: 10.1016/j.jpeds.2015.09.020. No abstract available. PMID: 26477867.

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, Dukhovny D, Siebert U, Green RC. Assessing the Costs and Cost-Effectiveness of Genomic Sequencing. J Pers Med. 2015 Dec 10;5(4):470-86. doi: 10.3390/jpm5040470. Review. PMID: 26690481.

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.

Clayton EW. How Much Control Do Children and Adolescents Have over Genomic Testing, Parental Access to Their Results, and Parental Communication of Those Results to Others?. J Law Med Ethics. 2015 Fall;43(3):538-44. doi: 10.1111/jlme.12296. PMID: 26479563.

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.

Daly MB. A Family-Centered Model for Sharing Genetic Risk. J Law Med Ethics. 2015 Fall;43(3):545-51. doi: 10.1111/jlme.12297. PMID: 26479564.

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.

Fernandez CV, O'Rourke PP, Beskow LM. Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families. J Law Med Ethics. 2015 Fall;43(3):514-22. doi: 10.1111/jlme.12293. PMID: 26479560.

Gallego CJ, Perez ML, Burt A, Amendola LM, Shirts BH, Pritchard CC, Hisama FM, Bennett RL, Veenstra DL, Jarvik GP. Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome. J Genet Couns. 2016 Jun;25(3):515-9. doi: 10.1007/s10897-015-9902-0. Epub 2015 Dec 5. PMID: 26637299.

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.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015;7(1):54. doi: 10.1186/s13073-015-0171-1. PMID: 26195989.

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.

Garrett SB, Dohan D, Koenig BA. Linking Broad Consent to Biobank Governance: Support From a Deliberative Public Engagement in California. Am J Bioeth. 2015 Sep;15(9):56-7. doi: 10.1080/15265161.2015.1062177. No abstract available. PMID: 26305757.

Garrison N. Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents. J Law Med Ethics. 2015 Fall;43(3):569-75. doi: 10.1111/jlme.12300. PMID: 26479567.

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.

Lane WJ, Westhoff CM, Uy JM, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Green RC, Silberstein LE; MedSeq Project. Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle. Transfusion. 2016 Mar;56(3):743-54. doi: 10.1111/trf.13416. Epub 2015 Dec 3. PMID: 26634332.

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.

Leos C, Khan CM, Rini C. Understanding self-management behaviors in symptomatic adults with uncertain etiology using an illness perceptions framework. J Behav Med. 2016 Apr;39(2):310-9. doi: 10.1007/s10865-015-9698-2. Epub 2015 Dec 8. PMID: 26646840.

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.

Lewis KL, Hooker GW, Connors PD, Hyams TC, Wright MF, Caldwell S, Biesecker LG, Biesecker BB. Participant use and communication of findings from exome sequencing: a mixed-methods study. Genet Med. 2015 Nov 5. doi: 10.1038/gim.2015.133. [Epub ahead of print]. PMID: 26540156.

Lewis MH, Goldenberg AJ. Return of Results from Research Using Newborn Screening Dried Blood Samples. J Law Med Ethics. 2015 Fall;43(3):559-68. doi: 10.1111/jlme.12299. PMID: 26479566.

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, Slashinski MJ, McGuire AL, Street RL Jr, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatr Blood Cancer. 2016 Mar;63(3):511-5. doi: 10.1002/pbc.25815. Epub 2015 Oct 27. PMID: 26505993.

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.

Petersen GM, Van Ness B. Returning a Research Participant's Genomic Results to Relatives: Perspectives from Managers of Two Distinct Research Biobanks. J Law Med Ethics. 2015 Fall;43(3):523-8. doi: 10.1111/jlme.12294. PMID: 26479561.

Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, Plon SE; Clinical Sequencing Exploratory Research Consortium Tumor Working Group. Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories. J Natl Cancer Inst. 2015 Nov 20;108(4). doi:pii: djv351. 10.1093/jnci/djv351. Print 2016 Apr. PMID: 26590952.

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 EG, Sangi-Haghpeykar H, McGuire AL, Van den Veyver IB, Fruhman G. Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing. Prenat Diagn. 2015 Aug 19. doi: 10.1002/pd.4680. [Epub ahead of print]. PMID: 26287960.

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.

Roche MI, Berg JS. Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice. Curr Genet Med Rep. 2015;3(4):166-176. Review. PMID: 26566463.

Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H, Hampton OA, White S, Bavle AA, Patel NR, Eldin KW, John Hicks M, Rakheja D, Leavey PJ, Skapek SX, Amatruda JF, Nuchtern JG, Chintagumpala MM, Wheeler DA, Plon SE, Sumazin P, Parsons DW. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 Nov 17;6:8891. doi: 10.1038/ncomms9891. PMID: 26573325.

Roychowdhury S, Chinnaiyan AM. Translating cancer genomes and transcriptomes for precision oncology. CA Cancer J Clin. 2016 Jan-Feb;66(1):75-88. doi: 10.3322/caac.21329. Epub 2015 Nov 3. Review. PMID: 26528881.

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.

Scollon S, Bergstrom K, McCullough LB, McGuire AL, Gutierrez S, Kerstein R, Parsons DW, Plon SE. Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics. 2015 Fall;43(3):529-37. doi: 10.1111/jlme.12295. PMID: 26479562.

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, Fernandez CV, Green RC. Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the Benefit to Families. J Law Med Ethics. 2015 Fall;43(3):552-8. doi: 10.1111/jlme.12298. PMID: 26479565.

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.

Wolf SM. INTRODUCTION: Return of Research Results: What About the Family?. J Law Med Ethics. 2015 Fall;43(3):437-9. doi: 10.1111/jlme.12287. No abstract available. PMID: 26479554.

Wolf SM, Burke W, Koenig BA. Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide. J Law Med Ethics. 2015 Fall;43(3):486-501. doi: 10.1111/jlme.12291. PMID: 26479558.

Wolf SM, Branum R, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS. Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations. J Law Med Ethics. 2015 Fall;43(3):440-63. doi: 10.1111/jlme.12288. PMID: 26479555.

Wolf SM. The new world of genomic testing, families and privacy. Minn Med. 2015 Jun;98(6):32-4. No abstract available. PMID: 26168658.

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

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; Professional Practice and Guidelines Committee. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014 Apr;16(4):347-55. doi: 10.1038/gim.2014.2. Epub 2014 Mar 20. PMID: 24651602.

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 BB, Klein W, Lewis KL, Fisher TC, Wright MF, Biesecker LG, Han PK. How do research participants perceive uncertainty" in genome sequencing?". Genet Med. 2014 Dec;16(12):977-80. doi: 10.1038/gim.2014.57. Epub 2014 May 29. PMID: 24875302.

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, Trinidad SB, Clayton EW. Seeking Genomic Knowledge: The Case for Clinical Restraint. Hastings Law J. 2013 Aug 1;64(6):1650-1664. PMID: 24688162.

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.

Couzin-Frankel J. Clinical research. Divulging DNA secrets of dead stirs debate. Science. 2014 Jan 24;343(6169):356-7. doi: 10.1126/science.343.6169.356. No abstract available. PMID: 24458615.

Cross JL, Iben J, Simpson CL, Thurm A, Swedo S, Tierney E, Bailey-Wilson JE, Biesecker LG, Porter FD, Wassif CA. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. Clin Genet. 2015 Jun;87(6):570-5. doi: 10.1111/cge.12425. Epub 2014 Jun 6. PMID: 24813812.

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, 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.

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.

Feero WG, Facio FM, Glogowski EA, Hampel HL, Stopfer JE, Eidem H, Pizzino AM, Barton DK, Biesecker LG. Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait. Genet Med. 2014 Dec 18. doi: 10.1038/gim.2014.179. [Epub ahead of print]. PMID: 25521335.

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.

Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2. PMID: 24487276.

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.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127. PMID: 24759409.

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.

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.

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.

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

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.

Sen SK, Barb JJ, Cherukuri PF, Accame DS, Elkahloun AG, Singh LN, Lee-Lin SQ; NISC Comparative Sequencing Program, Kolodgie FD, Cheng Q, Zhao X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG. Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC Genomics. 2014 Mar 14;15:198. doi: 10.1186/1471-2164-15-198. PMID: 24628908.

Sen SK, Boelte KC, Barb JJ, Joehanes R, Zhao X, Cheng Q, Adams L, Teer JK, Accame DS, Chowdhury S, Singh LN; NISC Comparative Sequencing Program; CHARGE Consortium, Kavousi M, Peyser PA, Quigley L, Priel DL, Lau K, Kuhns DB, Yoshimura T, Johnson AD, Hwang SJ, et al. Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet. 2014 Jul 3;95(1):66-76. doi: 10.1016/j.ajhg.2014.06.003. Epub 2014 Jun 26. PMID: 24975946.

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

(ClinSeq Publication) Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16. PMID: 23861362.

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.

Allyse M, Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol. 2013 Aug;31(8):439-41. doi: 10.1016/j.tibtech.2013.04.006. Epub 2013 May 9. No abstract available. PMID: 23664778.

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.

Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, Szynkiewicz M, Zabot MT, Rouvet I, Bhaskar SS, Daly SB, Dickerson JE, Mayer J, O'Sullivan J, Juillard L, Urquhart JE, Fawdar S, Marusiak AA, Stephenson N, Waszkowycz B, W Beresford M, Biesecker LG, et al. Protein kinase c?? deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 2013 Aug;65(8):2161-71. doi: 10.1002/art.38008. PMID: 23666743.

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.

Caskey CT, Gonzalez-Garay ML, Pereira S, McGuire AL. Adult genetic risk screening. Annu Rev Med. 2014;65:1-17. doi: 10.1146/annurev-med-111212-144716. Epub 2013 Nov 4. Review. PMID: 24188662.

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.

Christensen KD, Green RC. How could disclosing incidental information from whole-genome sequencing affect patient behavior?. Per Med. 2013 Jun;10(4). doi: 10.2217/pme.13.24. PMID: 24319470.

Clayton EW, Kelly SE. Let us ask better questions. Genet Med. 2013 Nov;15(11):871-2. doi: 10.1038/gim.2013.68. Epub 2013 May 23. No abstract available. PMID: 23703684.

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.

Conley YP, Biesecker LG, Gonsalves S, Merkle CJ, Kirk M, Aouizerat BE. Current and emerging technology approaches in genomics. J Nurs Scholarsh. 2013 Mar;45(1):5-14. doi: 10.1111/jnu.12001. Epub 2013 Jan 7. PMID: 23294727.

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.

Evans BJ. The First Amendment Right to Speak About the Human Genome. 16 U. PENN. J. CONST. L. Vol 16, 2013. PMID: 25473380. PMCID: 4249692.

Evans JP. Return of results to the families of children in genomic sequencing: tallying risks and benefits. Genet Med. 2013 Jun;15(6):435-6. doi: 10.1038/gim.2013.54. No abstract available. PMID: 23739673.

Evans JP. When is a medical finding incidental"?". Genet Med. 2013 Jul;15(7):515-6. doi: 10.1038/gim.2013.74. Epub 2013 May 30. No abstract available. PMID: 23722872.

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.

Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet. 2013 Feb 7;92(2):221-37. doi: 10.1016/j.ajhg.2012.12.016. Epub 2013 Jan 31. PMID: 23375656.

Gliwa C, Berkman BE. Do researchers have an obligation to actively look for genetic incidental findings?. Am J Bioeth. 2013;13(2):32-42. doi: 10.1080/15265161.2012.754062. PMID: 23391059.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. PMID: 24195946.

Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT. Personalized genomic disease risk of volunteers. Proc Natl Acad Sci U S A. 2013 Oct 15;110(42):16957-62. doi: 10.1073/pnas.1315934110. Epub 2013 Sep 30. PMID: 24082139.

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.

Johnston JJ, Biesecker LG. Databases of genomic variation and phenotypes: existing resources and future needs. Hum Mol Genet. 2013 Oct 15;22(R1):R27-31. doi: 10.1093/hmg/ddt384. Epub 2013 Aug 19. Review. PMID: 23962721.

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.

LandourÃ© G, Zhu PP, LourenÃ§o CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, SangarÃ© M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, DÃ¼rr A, Stevanin G, Biesecker LG; et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. PMID: 23857908.

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.

Overby CL, Tarczy-Hornoch P. Personalized medicine: challenges and opportunities for translational bioinformatics. Per Med. 2013 Jul 1;10(5):453-462. PMID: 24039624.

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.

Posokhova E, Ng D, Opel A, Masuho I, Tinker A, Biesecker LG, Wickman K, Martemyanov KA. Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability. PLoS One. 2013;8(10):e76973. doi: 10.1371/journal.pone.0076973. PMID: 24204714.

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.

Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013 Apr;14(4):295-300. doi: 10.1038/nrg3463. Epub 2013 Mar 12. PMID: 23478348.

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. Mandatory extended searches in all genome sequencing: incidental findings patient autonomy, and shared decision making. JAMA. 2013 Jul 24;310(4):367-8. doi: 10.1001/jama.2013.41700. No abstract available. PMID: 23917281.

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.

Van Allen EM, Wagle N, Levy MA. Clinical analysis and interpretation of cancer genome data. J Clin Oncol. 2013 May 20;31(15):1825-33. doi: 10.1200/JCO.2013.48.7215. Epub 2013 Apr 15. Review. PMID: 23589549.

Vassy JL, Donelan K, Hivert MF, Green RC, Grant RW. Genetic susceptibility testing for chronic disease and intention for behavior change in healthy young adults. J Community Genet. 2013 Apr;4(2):263-71. doi: 10.1007/s12687-013-0140-6. Epub 2013 Feb 24. PMID: 23435806.

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.

Wright MF, Lewis KL, Fisher TC, Hooker GW, Emanuel TE, Biesecker LG, Biesecker BB. Preferences for results delivery from exome sequencing/genome sequencing. Genet Med. 2014 Jun;16(6):442-7. doi: 10.1038/gim.2013.170. Epub 2013 Dec 5. PMID: 24310310.

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

(ClinSeq Publication) Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14. PMID: 22703879.

(ClinSeq Publication) Kaphingst KA, Facio FM, Cheng MR, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet. 2012 Nov;82(5):408-15. doi: 10.1111/j.1399-0004.2012.01909.x. Epub 2012 Aug 7. PMID: 22694298.

(ClinSeq Publication) LandourÃ© G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG; NIH Intramural Sequencing Center, Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG. A candidate gene for autoimmune myasthenia gravis. Neurology. 2012 Jul 24;79(4):342-7. Epub 2012 Jun 27. PMID: 22744667.

(ClinSeq Publication) Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, LandourÃ© G, Kennerson ML, Burnett BG, BÃ¶nnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. PMID: 23217327.

(ClinSeq Publication) Teer JK, Green ED, Mullikin JC, Biesecker LG. VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics. 2012 Feb 15;28(4):599-600. doi: 10.1093/bioinformatics/btr711. Epub 2011 Dec 30. PMID: 22210868.

(ClinSeq Publication) Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, ZÃ¼chner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11. PMID: 22930593.

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.

Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013 Feb;15(2):139-45. doi: 10.1038/gim.2012.113. Epub 2012 Sep 6. PMID: 22955112.

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.

Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project. Genet Med. 2012 Apr;14(4):393-8. doi: 10.1038/gim.2011.78. Epub 2012 Feb 16. PMID: 22344227.

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.

Chan B, Facio FM, Eidem H, Hull SC, Biesecker LG, Berkman BE. Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth. 2012;12(10):1-8. doi: 10.1080/15265161.2012.699138. PMID: 22974017.

Facio FM, Sapp JC, Linn A, Biesecker LG. Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research. BMC Med Genomics. 2012 Oct 10;5:45. doi: 10.1186/1755-8794-5-45. PMID: 23046515.

Facio FM, Eidem H, Fisher T, Brooks S, Linn A, Kaphingst KA, Biesecker LG, Biesecker BB. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet. 2013 Mar;21(3):261-5. doi: 10.1038/ejhg.2012.179. Epub 2012 Aug 15. PMID: 22892536.

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.

Harris ED, Ziniel SI, Amatruda JG, Clinton CM, Savage SK, Taylor PL, Huntington NL, Green RC, Holm IA. The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Genet Med. 2012 Mar;14(3):330-7. doi: 10.1038/gim.2011.25. Epub 2012 Jan 26. PMID: 22241099.

Holm IA, Taylor PL. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012 Spring;13(2):669-690. No abstract available. PMID: 24371432.

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.

MacRae CA. Action and the actionability in exome variation. Circ Cardiovasc Genet. 2012 Dec;5(6):597-8. doi: 10.1161/CIRCGENETICS.112.965152. No abstract available. PMID: 23250897.

MacRae CA. Pattern recognition: combining informatics and genetics to re-evaluate conduction disease. Heart. 2012 Sep;98(17):1263-4. doi: 10.1136/heartjnl-2012-302408. No abstract available. PMID: 22875820.

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.

Reiff M, Ross K, Mulchandani S, Propert KJ, Pyeritz RE, Spinner NB, Bernhardt BA. Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet. 2013 Jan;83(1):23-30. doi: 10.1111/cge.12004. Epub 2012 Sep 18. PMID: 22989118.

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.

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.

2011

(ClinSeq Publication) McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, ZÃ¼chner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Erratum in: Hum Mutat. 2014 Apr;35(4):512. PMID: 22009580.

(ClinSeq Publication) Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program, Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J Clin Invest. 2012 Jan 3;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19. PMID: 22182842.

Sharp RR. Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small. Genet Med. 2011 Mar;13(3):191-4. doi: 10.1097/GIM.0b013e31820f603f. PMID: 21311340.

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.

2002

Cella D, Hughes C, Peterman A, Chang CH, Peshkin BN, Schwartz MD, Wenzel L, Lemke A, Marcus AC, Lerman C. A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol. 2002 Nov;21(6):564-72. PMID: 12433008.