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Page 1
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: karsan a. Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8. Epub 2020 Jul 6. Genet Med. 2020. PMID: 32624572 Free PMC article.
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.
Yip S, Butterfield YS, Morozova O, Chittaranjan S, Blough MD, An J, Birol I, Chesnelong C, Chiu R, Chuah E, Corbett R, Docking R, Firme M, Hirst M, Jackman S, Karsan A, Li H, Louis DN, Maslova A, Moore R, Moradian A, Mungall KL, Perizzolo M, Qian J, Roldan G, Smith EE, Tamura-Wells J, Thiessen N, Varhol R, Weiss S, Wu W, Young S, Zhao Y, Mungall AJ, Jones SJ, Morin GB, Chan JA, Cairncross JG, Marra MA. Yip S, et al. Among authors: karsan a. J Pathol. 2012 Jan;226(1):7-16. doi: 10.1002/path.2995. Epub 2011 Nov 10. J Pathol. 2012. PMID: 22072542 Free PMC article.
Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies.
Swanson L, Robertson G, Mungall KL, Butterfield YS, Chiu R, Corbett RD, Docking TR, Hogge D, Jackman SD, Moore RA, Mungall AJ, Nip KM, Parker JD, Qian JQ, Raymond A, Sung S, Tam A, Thiessen N, Varhol R, Wang S, Yorukoglu D, Zhao Y, Hoodless PA, Sahinalp SC, Karsan A, Birol I. Swanson L, et al. Among authors: karsan a. BMC Genomics. 2013 Aug 14;14:550. doi: 10.1186/1471-2164-14-550. BMC Genomics. 2013. PMID: 23941359 Free PMC article.
A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.
Bosdet IE, Docking TR, Butterfield YS, Mungall AJ, Zeng T, Coope RJ, Yorida E, Chow K, Bala M, Young SS, Hirst M, Birol I, Moore RA, Jones SJ, Marra MA, Holt R, Karsan A. Bosdet IE, et al. Among authors: karsan a. J Mol Diagn. 2013 Nov;15(6):796-809. doi: 10.1016/j.jmoldx.2013.07.004. Epub 2013 Oct 4. J Mol Diagn. 2013. PMID: 24094589 Free article.
A population-based review of the feasibility of platinum-based combination chemotherapy after tyrosine kinase inhibition in EGFR mutation positive non-small cell lung cancer patients with advanced disease.
Mariano C, Bosdet I, Karsan A, Ionescu D, Murray N, Laskin JJ, Zhai Y, Melosky B, Sun S, Ho C. Mariano C, et al. Among authors: karsan a. Lung Cancer. 2014 Jan;83(1):73-7. doi: 10.1016/j.lungcan.2013.10.007. Epub 2013 Oct 19. Lung Cancer. 2014. PMID: 24192511 Clinical Trial.
Loss of the Notch effector RBPJ promotes tumorigenesis.
Kulic I, Robertson G, Chang L, Baker JH, Lockwood WW, Mok W, Fuller M, Fournier M, Wong N, Chou V, Robinson MD, Chun HJ, Gilks B, Kempkes B, Thomson TA, Hirst M, Minchinton AI, Lam WL, Jones S, Marra M, Karsan A. Kulic I, et al. Among authors: karsan a. J Exp Med. 2015 Jan 12;212(1):37-52. doi: 10.1084/jem.20121192. Epub 2014 Dec 15. J Exp Med. 2015. PMID: 25512468 Free PMC article.
Deep profiling of multitube flow cytometry data.
O'Neill K, Aghaeepour N, Parker J, Hogge D, Karsan A, Dalal B, Brinkman RR. O'Neill K, et al. Among authors: karsan a. Bioinformatics. 2015 May 15;31(10):1623-31. doi: 10.1093/bioinformatics/btv008. Epub 2015 Jan 18. Bioinformatics. 2015. PMID: 25600947 Free PMC article.
226 results