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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. Horak P, et al. Among authors: dubuc a. Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29. Genet Med. 2022. PMID: 35101336 Free PMC article.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Waggoner D, et al. Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Genet Med. 2018. PMID: 29915380 Free PMC article. Review.
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G. Mikhail FM, et al. Among authors: dubuc am. Genet Med. 2019 Sep;21(9):1903-1916. doi: 10.1038/s41436-019-0545-7. Epub 2019 May 29. Genet Med. 2019. PMID: 31138931 Free article.
Guiding the global evolution of cytogenetic testing for hematologic malignancies.
Akkari YMN, Baughn LB, Dubuc AM, Smith AC, Mallo M, Dal Cin P, Diez Campelo M, Gallego MS, Granada Font I, Haase DT, Schlegelberger B, Slavutsky I, Mecucci C, Levine RL, Hasserjian RP, Solé F, Levy B, Xu X. Akkari YMN, et al. Among authors: dubuc am. Blood. 2022 Apr 14;139(15):2273-2284. doi: 10.1182/blood.2021014309. Blood. 2022. PMID: 35167654 Free PMC article.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. Horak P, et al. Among authors: dubuc a. Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001. Genet Med. 2022. PMID: 36063163 Free article. No abstract available.
Genomic characterization of recurrent high-grade astroblastoma.
Bale TA, Abedalthagafi M, Bi WL, Kang YJ, Merrill P, Dunn IF, Dubuc A, Charbonneau SK, Brown L, Ligon AH, Ramkissoon SH, Ligon KL. Bale TA, et al. Among authors: dubuc a. Cancer Genet. 2016 Jul-Aug;209(7-8):321-30. doi: 10.1016/j.cancergen.2016.06.002. Epub 2016 Jun 21. Cancer Genet. 2016. PMID: 27425854
ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma.
Blandin AF, Giglio R, Graham MS, Garcia G, Malinowski S, Woods JK, Ramkissoon S, Ramkissoon L, Dubois F, Schoolcraft K, Tsai J, Wang D, Jones R, Vogelzang J, Pelton K, Becker S, Watkinson F, Sinai C, Cohen EF, Booker MA, Tolstorukov MY, Haemels V, Goumnerova L, Wright K, Kieran M, Fehnel K, Reardon D, Tauziede-Espariat A, Lulla R, Carcamo B, Chaleff S, Charest A, De Smet F, Ligon AH, Dubuc A, Pages M, Varlet P, Wen PY, Alexander BM, Chi S, Alexandrescu S, Kittler R, Bachoo R, Bandopadhayay P, Beroukhim R, Ligon KL. Blandin AF, et al. Among authors: dubuc a. Clin Cancer Res. 2023 Jul 14;29(14):2651-2667. doi: 10.1158/1078-0432.CCR-21-3521. Clin Cancer Res. 2023. PMID: 36780194 Free PMC article.
Institutional implementation of clinical tumor profiling on an unselected cancer population.
Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE. Sholl LM, et al. Among authors: dubuc am. JCI Insight. 2016 Nov 17;1(19):e87062. doi: 10.1172/jci.insight.87062. JCI Insight. 2016. PMID: 27882345 Free PMC article.
100 results