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Page 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Among authors: plon se. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Parent decision-making around the genetic testing of children for germline TP53 mutations.
Alderfer MA, Zelley K, Lindell RB, Novokmet A, Mai PL, Garber JE, Nathan D, Scollon S, Chun NM, Patenaude AF, Ford JM, Plon SE, Schiffman JD, Diller LR, Savage SA, Malkin D, Ford CA, Nichols KE. Alderfer MA, et al. Among authors: plon se. Cancer. 2015 Jan 15;121(2):286-93. doi: 10.1002/cncr.29027. Epub 2014 Sep 15. Cancer. 2015. PMID: 25223899 Free article.
Germline mutations in shelterin complex genes are associated with familial glioma.
Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML; Gliogene Consortium. Bainbridge MN, et al. Among authors: plon se. J Natl Cancer Inst. 2014 Dec 7;107(1):384. doi: 10.1093/jnci/dju384. Print 2015 Jan. J Natl Cancer Inst. 2014. PMID: 25482530 Free PMC article.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: plon se. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Walsh MF, et al. Among authors: plon se. Clin Cancer Res. 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. Clin Cancer Res. 2017. PMID: 28572264 Free PMC article. Review.
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Achatz MI, et al. Among authors: plon se. Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Clin Cancer Res. 2017. PMID: 28674119 Review.
251 results