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Page 1
Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes.
Pleasance E, Titmuss E, Williamson L, Kwan H, Culibrk L, Zhao EY, Dixon K, Fan K, Bowlby R, Jones MR, Shen Y, Grewal JK, Ashkani J, Wee K, Grisdale CJ, Thibodeau ML, Bozoky Z, Pearson H, Majounie E, Vira T, Shenwai R, Mungall KL, Chuah E, Davies A, Warren M, Reisle C, Bonakdar M, Taylor GA, Csizmok V, Chan SK, Zong Z, Bilobram S, Muhammadzadeh A, D'Souza D, Corbett RD, MacMillan D, Carreira M, Choo C, Bleile D, Sadeghi S, Zhang W, Wong T, Cheng D, Brown SD, Holt RA, Moore RA, Mungall AJ, Zhao Y, Nelson J, Fok A, Ma Y, Lee MKC, Lavoie JM, Mendis S, Karasinska JM, Deol B, Fisic A, Schaeffer DF, Yip S, Schrader K, Regier DA, Weymann D, Chia S, Gelmon K, Tinker A, Sun S, Lim H, Renouf DJ, Laskin J, Jones SJM, Marra MA. Pleasance E, et al. Among authors: thibodeau ml. Nat Cancer. 2020 Apr;1(4):452-468. doi: 10.1038/s43018-020-0050-6. Epub 2020 Apr 13. Nat Cancer. 2020. PMID: 35121966
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, J Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, J Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001628. doi: 10.1101/mcs.a001628. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28514723 Free PMC article.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.
Thibodeau ML, Bonakdar M, Zhao E, Mungall KL, Reisle C, Zhang W, Bye MH, Thiessen N, Bleile D, Mungall AJ, Ma YP, Jones MR, Renouf DJ, Lim HJ, Yip S, Ng T, Ho C, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. NPJ Precis Oncol. 2018 Mar 19;2(1):8. doi: 10.1038/s41698-018-0050-5. eCollection 2018. NPJ Precis Oncol. 2018. PMID: 29872726 Free PMC article.
Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a003327. doi: 10.1101/mcs.a003327. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068734 Free PMC article. No abstract available.
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma.
Ko JJ, Grewal JK, Ng T, Lavoie JM, Thibodeau ML, Shen Y, Mungall AJ, Taylor G, Schrader KA, Jones SJM, Kollmannsberger C, Laskin J, Marra MA. Ko JJ, et al. Among authors: thibodeau ml. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003137. doi: 10.1101/mcs.a003137. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30446580 Free PMC article.
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Pleasance E, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger SE, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA. Thibodeau ML, et al. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003681. doi: 10.1101/mcs.a003681. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30833417 Free PMC article.
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. 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.
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA. Dixon K, et al. Among authors: thibodeau ml. JNCI Cancer Spectr. 2020 May 29;4(5):pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 Oct. JNCI Cancer Spectr. 2020. PMID: 33134827 Free PMC article.
23 results