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Page 1
Copy Number Analysis in Cancer Diagnostic Testing.
Spence T, Dubuc AM. Spence T, et al. Among authors: dubuc am. Clin Lab Med. 2022 Sep;42(3):451-468. doi: 10.1016/j.cll.2022.05.003. Epub 2022 Aug 22. Clin Lab Med. 2022. PMID: 36150823 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.
Reporting of Diagnostic Cytogenetic Results.
Giersch ABS, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Cin PD. Giersch ABS, et al. Among authors: dubuc am. Curr Protoc Hum Genet. 2016 Apr 1;89:A.1D.1-A.1D.23. doi: 10.1002/0471142905.hg01ds89. Curr Protoc Hum Genet. 2016. PMID: 27037490
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.
Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Ramkissoon SH, et al. Among authors: dubuc am. Neuro Oncol. 2017 Jul 1;19(7):986-996. doi: 10.1093/neuonc/now294. Neuro Oncol. 2017. PMID: 28104717 Free PMC article.
Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.
Terraf P, Sholl LM, Davids MS, Awad MM, Garcia EP, MacConaill LE, Dal Cin P, Kim A, Lindeman NI, Stachler M, Hwang DH, Dubuc AM. Terraf P, et al. Among authors: dubuc am. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006089. doi: 10.1101/mcs.a006089. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34074652 Free PMC article.
Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma.
Ramkissoon SH, Bi WL, Schumacher SE, Ramkissoon LA, Haidar S, Knoff D, Dubuc A, Brown L, Burns M, Cryan JB, Abedalthagafi M, Kang YJ, Schultz N, Reardon DA, Lee EQ, Rinne ML, Norden AD, Nayak L, Ruland S, Doherty LM, LaFrankie DC, Horvath M, Aizer AA, Russo A, Arvold ND, Claus EB, Al-Mefty O, Johnson MD, Golby AJ, Dunn IF, Chiocca EA, Trippa L, Santagata S, Folkerth RD, Kantoff P, Rollins BJ, Lindeman NI, Wen PY, Ligon AH, Beroukhim R, Alexander BM, Ligon KL. Ramkissoon SH, et al. Neuro Oncol. 2015 Oct;17(10):1344-55. doi: 10.1093/neuonc/nov015. Epub 2015 Mar 9. Neuro Oncol. 2015. PMID: 25754088 Free PMC article.
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. 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
The current state of clinical interpretation of sequence variants.
Hoskinson DC, Dubuc AM, Mason-Suares H. Hoskinson DC, et al. Among authors: dubuc am. Curr Opin Genet Dev. 2017 Feb;42:33-39. doi: 10.1016/j.gde.2017.01.001. Epub 2017 Jan 31. Curr Opin Genet Dev. 2017. PMID: 28157586 Free PMC article. Review.
81 results