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Page 1
Integrative clinical genomics of advanced prostate cancer.
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, Brennan C, Siddiqui J, Mehra R, Chen Y, Rathkopf DE, Morris MJ, Solomon SB, Durack JC, Reuter VE, Gopalan A, Gao J, Loda M, Lis RT, Bowden M, Balk SP, Gaviola G, Sougnez C, Gupta M, Yu EY, Mostaghel EA, Cheng HH, Mulcahy H, True LD, Plymate SR, Dvinge H, Ferraldeschi R, Flohr P, Miranda S, Zafeiriou Z, Tunariu N, Mateo J, Perez-Lopez R, Demichelis F, Robinson BD, Schiffman M, Nanus DM, Tagawa ST, Sigaras A, Eng KW, Elemento O, Sboner A, Heath EI, Scher HI, Pienta KJ, Kantoff P, de Bono JS, Rubin MA, Nelson PS, Garraway LA, Sawyers CL, Chinnaiyan AM. Robinson D, et al. Cell. 2015 May 21;161(5):1215-1228. doi: 10.1016/j.cell.2015.05.001. Cell. 2015. PMID: 26000489 Free PMC article.
Liver metastasis restrains immunotherapy efficacy via macrophage-mediated T cell elimination.
Yu J, Green MD, Li S, Sun Y, Journey SN, Choi JE, Rizvi SM, Qin A, Waninger JJ, Lang X, Chopra Z, El Naqa I, Zhou J, Bian Y, Jiang L, Tezel A, Skvarce J, Achar RK, Sitto M, Rosen BS, Su F, Narayanan SP, Cao X, Wei S, Szeliga W, Vatan L, Mayo C, Morgan MA, Schonewolf CA, Cuneo K, Kryczek I, Ma VT, Lao CD, Lawrence TS, Ramnath N, Wen F, Chinnaiyan AM, Cieslik M, Alva A, Zou W. Yu J, et al. Nat Med. 2021 Jan;27(1):152-164. doi: 10.1038/s41591-020-1131-x. Epub 2021 Jan 4. Nat Med. 2021. PMID: 33398162 Free PMC article.
Integrative clinical genomics of metastatic cancer.
Robinson DR, Wu YM, Lonigro RJ, Vats P, Cobain E, Everett J, Cao X, Rabban E, Kumar-Sinha C, Raymond V, Schuetze S, Alva A, Siddiqui J, Chugh R, Worden F, Zalupski MM, Innis J, Mody RJ, Tomlins SA, Lucas D, Baker LH, Ramnath N, Schott AF, Hayes DF, Vijai J, Offit K, Stoffel EM, Roberts JS, Smith DC, Kunju LP, Talpaz M, Cieślik M, Chinnaiyan AM. Robinson DR, et al. Nature. 2017 Aug 17;548(7667):297-303. doi: 10.1038/nature23306. Epub 2017 Aug 2. Nature. 2017. PMID: 28783718 Free PMC article.
Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways.
Venneti S, Kawakibi AR, Ji S, Waszak SM, Sweha SR, Mota M, Pun M, Deogharkar A, Chung C, Tarapore RS, Ramage S, Chi A, Wen PY, Arrillaga-Romany I, Batchelor TT, Butowski NA, Sumrall A, Shonka N, Harrison RA, de Groot J, Mehta M, Hall MD, Daghistani D, Cloughesy TF, Ellingson BM, Beccaria K, Varlet P, Kim MM, Umemura Y, Garton H, Franson A, Schwartz J, Jain R, Kachman M, Baum H, Burant CF, Mottl SL, Cartaxo RT, John V, Messinger D, Qin T, Peterson E, Sajjakulnukit P, Ravi K, Waugh A, Walling D, Ding Y, Xia Z, Schwendeman A, Hawes D, Yang F, Judkins AR, Wahl D, Lyssiotis CA, de la Nava D, Alonso MM, Eze A, Spitzer J, Schmidt SV, Duchatel RJ, Dun MD, Cain JE, Jiang L, Stopka SA, Baquer G, Regan MS, Filbin MG, Agar NYR, Zhao L, Kumar-Sinha C, Mody R, Chinnaiyan A, Kurokawa R, Pratt D, Yadav VN, Grill J, Kline C, Mueller S, Resnick A, Nazarian J, Allen JE, Odia Y, Gardner SL, Koschmann C. Venneti S, et al. Cancer Discov. 2023 Nov 1;13(11):2370-2393. doi: 10.1158/2159-8290.CD-23-0131. Cancer Discov. 2023. PMID: 37584601 Free PMC article.
Radiotherapy and Immunotherapy Promote Tumoral Lipid Oxidation and Ferroptosis via Synergistic Repression of SLC7A11.
Lang X, Green MD, Wang W, Yu J, Choi JE, Jiang L, Liao P, Zhou J, Zhang Q, Dow A, Saripalli AL, Kryczek I, Wei S, Szeliga W, Vatan L, Stone EM, Georgiou G, Cieslik M, Wahl DR, Morgan MA, Chinnaiyan AM, Lawrence TS, Zou W. Lang X, et al. Cancer Discov. 2019 Dec;9(12):1673-1685. doi: 10.1158/2159-8290.CD-19-0338. Epub 2019 Sep 25. Cancer Discov. 2019. PMID: 31554642 Free PMC article.
Landscape of Microsatellite Instability Across 39 Cancer Types.
Bonneville R, Krook MA, Kautto EA, Miya J, Wing MR, Chen HZ, Reeser JW, Yu L, Roychowdhury S. Bonneville R, et al. JCO Precis Oncol. 2017;2017. doi: 10.1200/PO.17.00073. Epub 2017 Oct 3. JCO Precis Oncol. 2017. PMID: 29850653 Free PMC article.
Emerging issues in public health genomics.
Roberts JS, Dolinoy D, Tarini B. Roberts JS, et al. Annu Rev Genomics Hum Genet. 2014;15:461-480. doi: 10.1146/annurev-genom-090413-025514. Annu Rev Genomics Hum Genet. 2014. PMID: 25184533 Free PMC article. Review.
Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma.
Messinger D, Harris MK, Cummings JR, Thomas C, Yang T, Sweha SR, Woo R, Siddaway R, Burkert M, Stallard S, Qin T, Mullan B, Siada R, Ravindran R, Niculcea M, Dowling AR, Bradin J, Ginn KF, Gener MAH, Dorris K, Vitanza NA, Schmidt SV, Spitzer J, Li J, Filbin MG, Cao X, Castro MG, Lowenstein PR, Mody R, Chinnaiyan A, Desprez PY, McAllister S, Dun MD, Hawkins C, Waszak SM, Venneti S, Koschmann C, Yadav VN. Messinger D, et al. Neuro Oncol. 2023 Jan 5;25(1):54-67. doi: 10.1093/neuonc/noac141. Neuro Oncol. 2023. PMID: 35605606 Free PMC article.
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations.
Roberts HJ, Ji S, Picca A, Sanson M, Garcia M, Snuderl M, Schüller U, Picart T, Ducray F, Green AL, Nakano Y, Sturm D, Abdullaev Z, Aldape K, Dang D, Kumar-Sinha C, Wu YM, Robinson D, Vo JN, Chinnaiyan AM, Cartaxo R, Upadhyaya SA, Mody R, Chiang J, Baker S, Solomon D, Venneti S, Pratt D, Waszak SM, Koschmann C. Roberts HJ, et al. Acta Neuropathol. 2023 Dec;146(6):849-852. doi: 10.1007/s00401-023-02640-7. Epub 2023 Oct 18. Acta Neuropathol. 2023. PMID: 37851269 Free PMC article. No abstract available.
Everolimus improves the efficacy of dasatinib in PDGFRα-driven glioma.
Miklja Z, Yadav VN, Cartaxo RT, Siada R, Thomas CC, Cummings JR, Mullan B, Stallard S, Paul A, Bruzek AK, Wierzbicki K, Yang T, Garcia T, Wolfe I, Leonard M, Robertson PL, Garton HJ, Wahl DR, Parmar H, Sarkaria JN, Kline C, Mueller S, Nicolaides T, Glasser C, Leary SE, Venneti S, Kumar-Sinha C, Chinnaiyan AM, Mody R, Pai MP, Phoenix TN, Marini BL, Koschmann C. Miklja Z, et al. J Clin Invest. 2020 Oct 1;130(10):5313-5325. doi: 10.1172/JCI133310. J Clin Invest. 2020. PMID: 32603316 Free PMC article.
Comparison of custom capture for targeted next-generation DNA sequencing.
Samorodnitsky E, Datta J, Jewell BM, Hagopian R, Miya J, Wing MR, Damodaran S, Lippus JM, Reeser JW, Bhatt D, Timmers CD, Roychowdhury S. Samorodnitsky E, et al. J Mol Diagn. 2015 Jan;17(1):64-75. doi: 10.1016/j.jmoldx.2014.09.009. J Mol Diagn. 2015. PMID: 25528188 Free PMC article.
Next generation sequencing of extraskeletal myxoid chondrosarcoma.
Davis EJ, Wu YM, Robinson D, Schuetze SM, Baker LH, Athanikar J, Cao X, Kunju LP, Chinnaiyan AM, Chugh R. Davis EJ, et al. Oncotarget. 2017 Mar 28;8(13):21770-21777. doi: 10.18632/oncotarget.15568. Oncotarget. 2017. PMID: 28423517 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.
Physician Experiences and Understanding of Genomic Sequencing in Oncology.
Weipert CM, Ryan KA, Everett JN, Yashar BM, Chinnaiyan AM, Scott Roberts J, De Vries R, Zikmund-Fisher BJ, Raymond VM. Weipert CM, et al. J Genet Couns. 2018 Feb;27(1):187-196. doi: 10.1007/s10897-017-0134-3. Epub 2017 Aug 24. J Genet Couns. 2018. PMID: 28840409 Free PMC article.
Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review.
Connelly JA, Mody RJ, Wu YM, Robinson DR, Lonigro RJ, Vats P, Rabban E, Anderson B, Walkovich K. Connelly JA, et al. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002204. doi: 10.1101/mcs.a002204. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29572239 Free PMC article. Review.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. Yu JH, et al. Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17. Per Med. 2019. PMID: 31313633 Free PMC article.
HRAS mutations are frequent in inverted urothelial neoplasms.
McDaniel AS, Zhai Y, Cho KR, Dhanasekaran SM, Montgomery JS, Palapattu G, Siddiqui J, Morgan T, Alva A, Weizer A, Lee CT, Chinnaiyan AM, Quist MJ, Grasso CS, Tomlins SA, Mehra R. McDaniel AS, et al. Hum Pathol. 2014 Sep;45(9):1957-65. doi: 10.1016/j.humpath.2014.06.003. Epub 2014 Jun 18. Hum Pathol. 2014. PMID: 25097040 Free PMC article.
Inactivation of CDK12 Delineates a Distinct Immunogenic Class of Advanced Prostate Cancer.
Wu YM, Cieślik M, Lonigro RJ, Vats P, Reimers MA, Cao X, Ning Y, Wang L, Kunju LP, de Sarkar N, Heath EI, Chou J, Feng FY, Nelson PS, de Bono JS, Zou W, Montgomery B, Alva A; PCF/SU2C International Prostate Cancer Dream Team; Robinson DR, Chinnaiyan AM. Wu YM, et al. Cell. 2018 Jun 14;173(7):1770-1782.e14. doi: 10.1016/j.cell.2018.04.034. Cell. 2018. PMID: 29906450 Free PMC article.
The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.
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. Harms PW, et al. Cancer Res. 2015 Sep 15;75(18):3720-3727. doi: 10.1158/0008-5472.CAN-15-0702. Epub 2015 Aug 3. Cancer Res. 2015. PMID: 26238782 Free PMC article.
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor.
Tran D, Camelo-Piragua S, Gupta A, Gowans K, Robertson PL, Mody R, Koschmann C. Tran D, et al. J Pediatr Hematol Oncol. 2017 Nov;39(8):e466-e469. doi: 10.1097/MPH.0000000000000873. J Pediatr Hematol Oncol. 2017. PMID: 28731921 Free PMC article.
Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors.
Reeser JW, Martin D, Miya J, Kautto EA, Lyon E, Zhu E, Wing MR, Smith A, Reeder M, Samorodnitsky E, Parks H, Naik KR, Gozgit J, Nowacki N, Davies KD, Varella-Garcia M, Yu L, Freud AG, Coleman J, Aisner DL, Roychowdhury S. Reeser JW, et al. J Mol Diagn. 2017 Sep;19(5):682-696. doi: 10.1016/j.jmoldx.2017.05.006. Epub 2017 Aug 9. J Mol Diagn. 2017. PMID: 28802831 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.
Activating ESR1 mutations in hormone-resistant metastatic breast cancer.
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, Talpaz M, Schott AF, Chinnaiyan AM. Robinson DR, et al. Nat Genet. 2013 Dec;45(12):1446-51. doi: 10.1038/ng.2823. Epub 2013 Nov 3. Nat Genet. 2013. PMID: 24185510 Free PMC article.
Integration of Germline Pharmacogenetics Into a Tumor Sequencing Program.
Hertz DL, Glatz A, Pasternak AL, Lonigro RJ, Vats P, Wu YM, Anderson B, Rabban E, Mora E, Frank K, Robinson DR, Mody RJ, Chinnaiyan A. Hertz DL, et al. JCO Precis Oncol. 2018;2. doi: 10.1200/po.18.00011. Epub 2018 Jul 23. JCO Precis Oncol. 2018. PMID: 32832831 Free PMC article.
Oncologists' Use of Genomic Sequencing Data to Inform Clinical Management.
Gornick MC, Cobain E, Le LQ, Bartnik N, Stoffel E, Schuetze S, Talpaz M, Chinnaiyan A, Roberts JS; Michigan Oncology Sequencing Study. Gornick MC, et al. JCO Precis Oncol. 2018 Feb 21;2:PO.17.00122. doi: 10.1200/PO.17.00122. eCollection 2018. JCO Precis Oncol. 2018. PMID: 32914003 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.
Characterizing and targeting PDGFRA alterations in pediatric high-grade glioma.
Koschmann C, Zamler D, MacKay A, Robinson D, Wu YM, Doherty R, Marini B, Tran D, Garton H, Muraszko K, Robertson P, Leonard M, Zhao L, Bixby D, Peterson L, Camelo-Piragua S, Jones C, Mody R, Lowenstein PR, Castro MG. Koschmann C, et al. Oncotarget. 2016 Oct 4;7(40):65696-65706. doi: 10.18632/oncotarget.11602. Oncotarget. 2016. PMID: 27582545 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.
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
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, Yanik G, Chamdin A, Connelly JA, Choi S, Harris AC, Kitko C, Rao RJ, Levine JE, Castle VP, Hutchinson RJ, Talpaz M, Robinson DR, Chinnaiyan AM. Mody RJ, et al. JAMA. 2015 Sep 1;314(9):913-25. doi: 10.1001/jama.2015.10080. JAMA. 2015. PMID: 26325560 Free PMC article.
Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.
Wing MR, Reeser JW, Smith AM, Reeder M, Martin D, Jewell BM, Datta J, Miya J, Monk JP, Mortazavi A, Otterson GA, Goldberg RM, VanDeusen JB, Cole S, Dittmar K, Jaiswal S, Kinzie M, Waikhom S, Freud AG, Zhou XP, Chen W, Bhatt D, Roychowdhury S. Wing MR, et al. Oncotarget. 2017 Sep 1;8(44):75822-75833. doi: 10.18632/oncotarget.20616. eCollection 2017 Sep 29. Oncotarget. 2017. PMID: 29100271 Free PMC article.
Clinically Integrated Sequencing Alters Therapy in Children and Young Adults With High-Risk Glial Brain Tumors.
Koschmann C, Wu YM, Kumar-Sinha C, Lonigro R, Vats P, Kasaian K, Cieslik M, Cao X, Anderson B, Frank K, Zhao L, Prensner JR, Zureick AH, Everett J, Mullan B, Marini B, Camelo-Piragua S, Venneti S, McKeever P, McFadden K, Lieberman AP, Leonard M, Maher CO, Garton H, Muraszko K, Robertson P, Robinson D, Chinnaiyan AM, Mody R. Koschmann C, et al. JCO Precis Oncol. 2018;2. doi: 10.1200/po.17.00133. Epub 2018 May 4. JCO Precis Oncol. 2018. PMID: 32832832 Free PMC article.
Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
Hovelson DH, McDaniel AS, Cani AK, Johnson B, Rhodes K, Williams PD, Bandla S, Bien G, Choppa P, Hyland F, Gottimukkala R, Liu G, Manivannan M, Schageman J, Ballesteros-Villagrana E, Grasso CS, Quist MJ, Yadati V, Amin A, Siddiqui J, Betz BL, Knudsen KE, Cooney KA, Feng FY, Roh MH, Nelson PS, Liu CJ, Beer DG, Wyngaard P, Chinnaiyan AM, Sadis S, Rhodes DR, Tomlins SA. Hovelson DH, et al. Neoplasia. 2015 Apr;17(4):385-99. doi: 10.1016/j.neo.2015.03.004. Neoplasia. 2015. PMID: 25925381 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.
Multi-focal sequencing of a diffuse intrinsic pontine glioma establishes PTEN loss as an early event.
Koschmann C, Farooqui Z, Kasaian K, Cao X, Zamler D, Stallard S, Venneti S, Hervey-Jumper S, Garton H, Muraszko K, Franchi L, Robertson PL, Leonard M, Opipari V, Castro MG, Lowenstein PR, Chinnaiyan A, Mody R. Koschmann C, et al. NPJ Precis Oncol. 2017 Sep 14;1(1):32. doi: 10.1038/s41698-017-0033-y. eCollection 2017. NPJ Precis Oncol. 2017. PMID: 29872713 Free PMC article.
Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney.
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, McKenney JK, Dhanasekaran SM, Chinnaiyan AM. Mehra R, et al. Cancer Discov. 2016 Nov;6(11):1258-1266. doi: 10.1158/2159-8290.CD-16-0267. Epub 2016 Sep 7. Cancer Discov. 2016. PMID: 27604489 Free PMC article.
Illustrative case studies in the return of exome and genome sequencing results.
Amendola LM, Lautenbach D, Scollon S, Bernhardt B, Biswas S, East K, Everett J, Gilmore MJ, Himes P, Raymond VM, Wynn J, Hart R; CSER Genetic Counseling Working Group; Jarvik GP. Amendola LM, et al. Per Med. 2015;12(3):283-295. doi: 10.2217/pme.14.89. Per Med. 2015. PMID: 26478737 Free PMC article.
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, Overby CL. Shirts BH, et al. J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3. J Am Med Inform Assoc. 2015. PMID: 26142422 Free PMC article.