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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Among authors: plon se. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group. Greenblatt MS, et al. Among authors: plon se. Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889. Hum Mutat. 2008. PMID: 18951438 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.
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. Among authors: plon se. 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.
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.
237 results