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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: mungall aj, mungall kl. 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.
Complete genomic landscape of a recurring sporadic parathyroid carcinoma.
Kasaian K, Wiseman SM, Thiessen N, Mungall KL, Corbett RD, Qian JQ, Nip KM, He A, Tse K, Chuah E, Varhol RJ, Pandoh P, McDonald H, Zeng T, Tam A, Schein J, Birol I, Mungall AJ, Moore RA, Zhao Y, Hirst M, Marra MA, Walker BA, Jones SJ. Kasaian K, et al. Among authors: mungall aj, mungall kl. J Pathol. 2013 Jul;230(3):249-60. doi: 10.1002/path.4203. J Pathol. 2013. PMID: 23616356
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. Among authors: mungall aj, mungall kl. 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.
Homologous Recombination Deficiency and Platinum-Based Therapy Outcomes in Advanced Breast Cancer.
Zhao EY, Shen Y, Pleasance E, Kasaian K, Leelakumari S, Jones M, Bose P, Ch'ng C, Reisle C, Eirew P, Corbett R, Mungall KL, Thiessen N, Ma Y, Schein JE, Mungall AJ, Zhao Y, Moore RA, Den Brok W, Wilson S, Villa D, Shenkier T, Lohrisch C, Chia S, Yip S, Gelmon K, Lim H, Renouf D, Sun S, Schrader KA, Young S, Bosdet I, Karsan A, Laskin J, Marra MA, Jones SJM. Zhao EY, et al. Among authors: mungall aj, mungall kl. Clin Cancer Res. 2017 Dec 15;23(24):7521-7530. doi: 10.1158/1078-0432.CCR-17-1941. Clin Cancer Res. 2017. PMID: 29246904
Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.
Chahal M, Pleasance E, Grewal J, Zhao E, Ng T, Chapman E, Jones MR, Shen Y, Mungall KL, Bonakdar M, Taylor GA, Ma Y, Mungall AJ, Moore RA, Lim H, Renouf D, Yip S, Jones SJM, Marra MA, Laskin J. Chahal M, et al. Among authors: mungall aj, mungall kl. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002626. doi: 10.1101/mcs.a002626. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29610392 Free PMC article.
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. Among authors: mungall aj, mungall kl. 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.
MAVIS: merging, annotation, validation, and illustration of structural variants.
Reisle C, Mungall KL, Choo C, Paulino D, Bleile DW, Muhammadzadeh A, Mungall AJ, Moore RA, Shlafman I, Coope R, Pleasance S, Ma Y, Jones SJM. Reisle C, et al. Among authors: mungall aj, mungall kl. Bioinformatics. 2019 Feb 1;35(3):515-517. doi: 10.1093/bioinformatics/bty621. Bioinformatics. 2019. PMID: 30016509
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. Among authors: mungall aj, mungall kl. 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.
NRG1 Gene Fusions Are Recurrent, Clinically Actionable Gene Rearrangements in KRAS Wild-Type Pancreatic Ductal Adenocarcinoma.
Jones MR, Williamson LM, Topham JT, Lee MKC, Goytain A, Ho J, Denroche RE, Jang G, Pleasance E, Shen Y, Karasinska JM, McGhie JP, Gill S, Lim HJ, Moore MJ, Wong HL, Ng T, Yip S, Zhang W, Sadeghi S, Reisle C, Mungall AJ, Mungall KL, Moore RA, Ma Y, Knox JJ, Gallinger S, Laskin J, Marra MA, Schaeffer DF, Jones SJM, Renouf DJ. Jones MR, et al. Among authors: mungall aj, mungall kl. Clin Cancer Res. 2019 Aug 1;25(15):4674-4681. doi: 10.1158/1078-0432.CCR-19-0191. Epub 2019 May 8. Clin Cancer Res. 2019. PMID: 31068372
128 results