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2012 3
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2014 8
2015 14
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2024 3

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Page 1
A brief history of human disease genetics.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Claussnitzer M, et al. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Nature. 2020. PMID: 31915397 Free PMC article. Review.
Molecular findings among patients referred for clinical whole-exome sequencing.
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, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Pierpont ME, et al. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Circulation. 2018. PMID: 30571578 Free PMC article. Review.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Germline pathogenic SMARCA4 variants in neuroblastoma.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Yang Y, et al. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088041 Free PMC article.
Genomic Data-Sharing Practices.
Villanueva AG, Cook-Deegan R, Robinson JO, McGuire AL, Majumder MA. Villanueva AG, et al. J Law Med Ethics. 2019 Mar;47(1):31-40. doi: 10.1177/1073110519840482. J Law Med Ethics. 2019. PMID: 30994063 Free PMC article.
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Posey JE, et al. N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7. N Engl J Med. 2017. PMID: 27959697 Free PMC article.
Next-generation sequencing in the clinic: are we ready?
Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R. Biesecker LG, et al. Nat Rev Genet. 2012 Nov;13(11):818-24. doi: 10.1038/nrg3357. Nat Rev Genet. 2012. PMID: 23076269 Free PMC article. Review.
Conceptualization of utility in translational clinical genomics research.
Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Smith HS, et al. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. Am J Hum Genet. 2021. PMID: 34687653 Free PMC article. Review.
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Mangum R, Reuther J, Sen Baksi K, Gandhi I, Zabriskie RC, Recinos A, Raesz-Martinez R, Lin FY, Potter SL, Sher AC, Kralik SF, Mohila CA, Chintagumpala MM, Muzny D, Hu J, Gibbs RA, Fisher KE, Bernini JC, Gill J, Griffin TC, Tomlinson GE, Vallance KL, Plon SE, Roy A, Parsons DW. Mangum R, et al. Pediatr Hematol Oncol. 2023;40(8):719-738. doi: 10.1080/08880018.2023.2228837. Epub 2023 Jun 27. Pediatr Hematol Oncol. 2023. PMID: 37366551
Scaling Genetic Counseling in the Genomics Era.
Amendola LM, Golden-Grant K, Scollon S. Amendola LM, et al. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:339-355. doi: 10.1146/annurev-genom-110320-121752. Epub 2021 Mar 15. Annu Rev Genomics Hum Genet. 2021. PMID: 33722076 Free article.
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
Smith HS, Ferket BS, Gelb BD, Hindorff L, Ferar KD, Norton ME, Sahin-Hodoglugil N, Slavotinek A, Lich KH, Berg JS, Russell HV. Smith HS, et al. Pediatrics. 2023 Aug 1;152(2):e2022060318. doi: 10.1542/peds.2022-060318. Pediatrics. 2023. PMID: 37470118
Toward better governance of human genomic data.
O'Doherty KC, Shabani M, Dove ES, Bentzen HB, Borry P, Burgess MM, Chalmers D, De Vries J, Eckstein L, Fullerton SM, Juengst E, Kato K, Kaye J, Knoppers BM, Koenig BA, Manson SM, McGrail KM, McGuire AL, Meslin EM, Nicol D, Prainsack B, Terry SF, Thorogood A, Burke W. O'Doherty KC, et al. Nat Genet. 2021 Jan;53(1):2-8. doi: 10.1038/s41588-020-00742-6. Nat Genet. 2021. PMID: 33414545 Free PMC article.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SE. Scollon S, et al. Pediatr Blood Cancer. 2022 Nov;69(11):e29859. doi: 10.1002/pbc.29859. Epub 2022 Jun 30. Pediatr Blood Cancer. 2022. PMID: 35713195 Free PMC article.
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket BS, Baldwin Z, Murali P, Pai A, Mittendorf KF, Russell HV, Chen F, Lynch FL, Lich KH, Hindorff LA, Savich R, Slavotinek A, Smith HS, Gelb BD, Veenstra DL. Ferket BS, et al. Genet Med. 2022 Oct;24(10):2014-2027. doi: 10.1016/j.gim.2022.06.004. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833928 Free PMC article. Review.
Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.
Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Smith HS, et al. Patient. 2022 May;15(3):317-328. doi: 10.1007/s40271-021-00558-4. Epub 2021 Oct 18. Patient. 2022. PMID: 34658003 Free PMC article. Review.
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group. Ritter DI, et al. Genome Med. 2016 Nov 4;8(1):117. doi: 10.1186/s13073-016-0367-z. Genome Med. 2016. PMID: 27814769 Free PMC article.
Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research.
Gutierrez AM, Robinson JO, Raesz-Martinez R, Canfield I, Majumder MA, Scollon S, Desrosiers LR, Hsu RL, Allen-Rhoades W, Parsons DW, Plon SE, McGuire AL, Malek J. Gutierrez AM, et al. J Adolesc Young Adult Oncol. 2023 Oct;12(5):773-781. doi: 10.1089/jayao.2022.0066. Epub 2023 Jan 2. J Adolesc Young Adult Oncol. 2023. PMID: 36595372
Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.
Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. Gray SW, et al. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625446 Free PMC article. Review.
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.
Garcia A, Desrosiers L, Scollon S, Gruner S, Reuther J, Gandhi I, Patil N, Fuller MY, Dai H, Muzny D, Gibbs RA, Bercaw-Pratt JL, Rao SL, Rainusso N, Fisher KE, Lin FY, Plon SE, Parsons DW, Roy A. Garcia A, et al. Cancer Genet. 2022 Apr;262-263:53-56. doi: 10.1016/j.cancergen.2022.01.001. Epub 2022 Jan 5. Cancer Genet. 2022. PMID: 35026696 Free PMC article. No abstract available.
Point-counterpoint. Ethics and genomic incidental findings.
McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, Caulfield T, Terry SF, Green RC. McGuire AL, et al. Science. 2013 May 31;340(6136):1047-8. doi: 10.1126/science.1240156. Epub 2013 May 16. Science. 2013. PMID: 23686340 Free PMC article. No abstract available.
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group. Berg JS, et al. Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Genet Med. 2013. PMID: 24195999 Free PMC article. Review.
The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.
Hoban HG, Yip TA, Chau JC, Bensen JT, Desrosiers LR, Finnila CR, Hindorff LA, Kelly NR, Lynch FL, Rolf BA, Smith HS, Wasserstein MP, Hassmiller Lich K. Hoban HG, et al. Clin Transl Sci. 2024 Jan;17(1):e13635. doi: 10.1111/cts.13635. Epub 2023 Dec 8. Clin Transl Sci. 2024. PMID: 38064200 Free PMC article. Review.
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Popejoy AB, Ritter DI, Crooks K, Currey E, Fullerton SM, Hindorff LA, Koenig B, Ramos EM, Sorokin EP, Wand H, Wright MW, Zou J, Gignoux CR, Bonham VL, Plon SE, Bustamante CD; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG). Popejoy AB, et al. Hum Mutat. 2018 Nov;39(11):1713-1720. doi: 10.1002/humu.23644. Hum Mutat. 2018. PMID: 30311373 Free PMC article.
Neuroscience. Preventable forms of autism?
Beaudet AL. Beaudet AL. Science. 2012 Oct 19;338(6105):342-3. doi: 10.1126/science.1229178. Science. 2012. PMID: 23087240 Free PMC article.
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
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, López-Terrada D, Parsons DW, Roy A. Peters TL, et al. Mod Pathol. 2015 Apr;28(4):575-86. doi: 10.1038/modpathol.2014.139. Epub 2014 Oct 31. Mod Pathol. 2015. PMID: 25360585 Free PMC article.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy AB, Crooks KR, Fullerton SM, Hindorff LA, Hooker GW, Koenig BA, Pino N, Ramos EM, Ritter DI, Wand H, Wright MW, Yudell M, Zou JY, Plon SE, Bustamante CD, Ormond KE; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group. Popejoy AB, et al. Am J Hum Genet. 2020 Jul 2;107(1):72-82. doi: 10.1016/j.ajhg.2020.05.005. Epub 2020 Jun 6. Am J Hum Genet. 2020. PMID: 32504544 Free PMC article.
Rethinking the "open future" argument against predictive genetic testing of children.
Garrett JR, Lantos JD, Biesecker LG, Childerhose JE, Chung WK, Holm IA, Koenig BA, McEwen JE, Wilfond BS, Brothers K; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. Garrett JR, et al. Genet Med. 2019 Oct;21(10):2190-2198. doi: 10.1038/s41436-019-0483-4. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894702 Free PMC article.
Lessons learned about harmonizing survey measures for the CSER consortium.
Goddard KAB, Angelo FAN, Ackerman SL, Berg JS, Biesecker BB, Danila MI, East KM, Hindorff LA, Horowitz CR, Hunter JE, Joseph G, Knight SJ, McGuire A, Muessig KR, Ou J, Outram S, Rahn EJ, Ramos MA, Rini C, Robinson JO, Smith HS, Waltz M, Lee SS. Goddard KAB, et al. J Clin Transl Sci. 2020 Apr 24;4(6):537-546. doi: 10.1017/cts.2020.41. J Clin Transl Sci. 2020. PMID: 33948230 Free PMC article.
Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney.
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. Roy A, et al. Nat Commun. 2015 Nov 17;6:8891. doi: 10.1038/ncomms9891. Nat Commun. 2015. PMID: 26573325 Free PMC article.
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. Yu JH, et al. Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17. Per Med. 2019. PMID: 31313633 Free PMC article.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
O'Daniel JM, Ackerman S, Desrosiers LR, Rego S, Knight SJ, Mollison L, Byfield G, Anderson KP, Danila MI, Horowitz CR, Joseph G, Lamoure G, Lindberg NM, McMullen CK, Mittendorf KF, Ramos MA, Robinson M, Sillari C, Madden EB; CSER Stakeholder and Engagement Work Group. O'Daniel JM, et al. Genet Med. 2022 May;24(5):1108-1119. doi: 10.1016/j.gim.2022.01.008. Epub 2022 Feb 25. Genet Med. 2022. PMID: 35227608 Free PMC article.
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Posey JE, et al. Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633545 Free PMC article.
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.
Amendola LM, Robinson JO, Hart R, Biswas S, Lee K, Bernhardt BA, East K, Gilmore MJ, Kauffman TL, Lewis KL, Roche M, Scollon S, Wynn J, Blout C. Amendola LM, et al. J Genet Couns. 2018 Sep;27(5):1220-1227. doi: 10.1007/s10897-018-0243-7. Epub 2018 Mar 1. J Genet Couns. 2018. PMID: 29497922 Free PMC article.
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).
Phillips KA, Trosman JR, Douglas MP, Gelb BD, Ferket BS, Hindorff LA, Slavotinek AM, Berg JS, Russell HV, Devine B, Greve V, Smith HS. Phillips KA, et al. Genet Med. 2022 Jan;24(1):238-244. doi: 10.1016/j.gim.2021.08.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906461 Free PMC article.
Returning genetic research results: study type matters.
McGuire AL, Robinson JO, Ramoni RB, Morley DS, Jofe S, Plon SE. McGuire AL, et al. Per Med. 2013 Jan;10(1):27-34. doi: 10.2217/pme.12.109. Per Med. 2013. PMID: 24077424 Free PMC article.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. Horowitz CR, et al. Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104772 Free PMC article.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP. Amendola LM, et al. Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26. Am J Hum Genet. 2020. PMID: 33108757 Free PMC article.
Hepatocellular carcinoma associated with tight-junction protein 2 deficiency.
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. Zhou S, et al. Hepatology. 2015 Dec;62(6):1914-6. doi: 10.1002/hep.27872. Epub 2015 Jun 19. Hepatology. 2015. PMID: 25921221 Free PMC article. No abstract available.
Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.
Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O'Daniel JM, Okuyama S, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA. Gutierrez AM, et al. J Clin Transl Sci. 2021 Sep 14;5(1):e193. doi: 10.1017/cts.2021.855. eCollection 2021. J Clin Transl Sci. 2021. PMID: 34888063 Free PMC article.
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Parsons DW, et al. JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699. JAMA Oncol. 2016. PMID: 26822237 Free PMC article.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium. Sanghvi RV, et al. Genet Med. 2018 Aug;20(8):855-866. doi: 10.1038/gim.2017.192. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144510 Free PMC article.
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.
Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Rasmussen LV, et al. Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. Appl Clin Inform. 2016. PMID: 27652374 Free PMC article.
When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.
Brothers KB, Holm IA, Childerhose JE, Antommaria AHM, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS; Pediatrics Workgroup of the Clinical Sequencing Exploratory Research (CSER) Consortium. Brothers KB, et al. J Pediatr. 2016 Jan;168:226-231.e1. doi: 10.1016/j.jpeds.2015.09.020. Epub 2015 Oct 23. J Pediatr. 2016. PMID: 26477867 Free PMC article. No abstract available.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. Amendola LM, et al. Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007. Am J Hum Genet. 2018. PMID: 30193136 Free PMC article.
Addressing the ethical challenges in genetic testing and sequencing of children.
Clayton EW, McCullough LB, Biesecker LG, Joffe S, Ross LF, Wolf SM; Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. Clayton EW, et al. Am J Bioeth. 2014;14(3):3-9. doi: 10.1080/15265161.2013.879945. Am J Bioeth. 2014. PMID: 24592828 Free PMC article.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study; Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Stankiewicz P, et al. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942966 Free PMC article.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Hart MR, et al. Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287922 Free PMC article.
Experiences with obtaining informed consent for genomic sequencing.
Bernhardt BA, Roche MI, Perry DL, Scollon SR, Tomlinson AN, Skinner D. Bernhardt BA, et al. Am J Med Genet A. 2015 Nov;167A(11):2635-46. doi: 10.1002/ajmg.a.37256. Epub 2015 Jul 21. Am J Med Genet A. 2015. PMID: 26198374 Free PMC article.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 Free PMC article.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group. Porter KM, et al. Mol Genet Genomic Med. 2018 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21. Mol Genet Genomic Med. 2018. PMID: 30133189 Free PMC article.
Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer.
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, Finegold M, Goss JA, Parsons DW, Vasudevan SA, Sumazin P, López-Terrada D, Bissig KD. Bissig-Choisat B, et al. J Hepatol. 2016 Aug;65(2):325-33. doi: 10.1016/j.jhep.2016.04.009. Epub 2016 Apr 23. J Hepatol. 2016. PMID: 27117591 Free PMC article.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. Am J Hum Genet. 2016. PMID: 27392081 Free PMC article. No abstract available.
Illustrative case studies in the return of exome and genome sequencing results.
Amendola LM, Lautenbach D, Scollon S, Bernhardt B, Biswas S, East K, Everett J, Gilmore MJ, Himes P, Raymond VM, Wynn J, Hart R; CSER Genetic Counseling Working Group; Jarvik GP. Amendola LM, et al. Per Med. 2015;12(3):283-295. doi: 10.2217/pme.14.89. Per Med. 2015. PMID: 26478737 Free PMC article.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
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, Yang Y, Gibbs RA. Xia F, et al. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.