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Page 1
Childhood acute myeloid leukemia shows a high level of germline predisposition.
Samaraweera SE, Wang PPS, Li KL, Casolari DA, Feng J, Pinese M, Maung KZY, Leo P, Cowley M, Perkins K, Smith AM, Ellis J, Wee A, Hiwase DK, Scott HS, Schreiber AW, Brown AL, Deans AJ, Ross DM, Moore AS, Gonda TJ, Hahn CN, D'Andrea RJ. Samaraweera SE, et al. Among authors: cowley m. Blood. 2021 Dec 2;138(22):2293-2298. doi: 10.1182/blood.2021012666. Blood. 2021. PMID: 34521114 Free article. No abstract available.
qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles.
Song S, Nones K, Miller D, Harliwong I, Kassahn KS, Pinese M, Pajic M, Gill AJ, Johns AL, Anderson M, Holmes O, Leonard C, Taylor D, Wood S, Xu Q, Newell F, Cowley MJ, Wu J, Wilson P, Fink L, Biankin AV, Waddell N, Grimmond SM, Pearson JV. Song S, et al. Among authors: cowley mj. PLoS One. 2012;7(9):e45835. doi: 10.1371/journal.pone.0045835. Epub 2012 Sep 25. PLoS One. 2012. PMID: 23049875 Free PMC article.
Somatic point mutation calling in low cellularity tumors.
Kassahn KS, Holmes O, Nones K, Patch AM, Miller DK, Christ AN, Harliwong I, Bruxner TJ, Xu Q, Anderson M, Wood S, Leonard C, Taylor D, Newell F, Song S, Idrisoglu S, Nourse C, Nourbakhsh E, Manning S, Wani S, Steptoe A, Pajic M, Cowley MJ, Pinese M, Chang DK, Gill AJ, Johns AL, Wu J, Wilson PJ, Fink L, Biankin AV, Waddell N, Grimmond SM, Pearson JV. Kassahn KS, et al. Among authors: cowley mj. PLoS One. 2013 Nov 8;8(11):e74380. doi: 10.1371/journal.pone.0074380. eCollection 2013. PLoS One. 2013. PMID: 24250782 Free PMC article.
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI. De Sousa SMC, et al. Among authors: cowley mj. Eur J Endocrinol. 2017 May;176(5):635-644. doi: 10.1530/EJE-16-0944. Epub 2017 Feb 20. Eur J Endocrinol. 2017. PMID: 28220018
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma.
Ziegler DS, Wong M, Mayoh C, Kumar A, Tsoli M, Mould E, Tyrrell V, Khuong-Quang DA, Pinese M, Gayevskiy V, Cohn RJ, Lau LMS, Reynolds M, Cox MC, Gifford A, Rodriguez M, Cowley MJ, Ekert PG, Marshall GM, Haber M. Ziegler DS, et al. Among authors: cowley mj. Br J Cancer. 2018 Sep;119(6):693-696. doi: 10.1038/s41416-018-0251-2. Epub 2018 Sep 17. Br J Cancer. 2018. PMID: 30220707 Free PMC article.
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
McCabe MJ, Pinese M, Chan CL, Sheriff N, Thompson TJ, Grady J, Wong M, Gauthier MA, Puttick C, Gayevskiy V, Hajdu E, Wong SQ, Barrett W, Earls P, Lukeis R, Cheng YY, Lin RCY, Thomas DM, Watkins DN, Dinger ME, McCormack AI, Cowley MJ. McCabe MJ, et al. Among authors: cowley mj. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003764. doi: 10.1101/mcs.a003764. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30936196 Free PMC article.
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell JE, Kaplan W, Gibson G, Gyllensten U, Cairns MJ, McNamara M, Dinger ME, Thomas DM. Pinese M, et al. Among authors: cowley mj. Nat Commun. 2020 Jan 23;11(1):435. doi: 10.1038/s41467-019-14079-0. Nat Commun. 2020. PMID: 31974348 Free PMC article.
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.
Wong M, Mayoh C, Lau LMS, Khuong-Quang DA, Pinese M, Kumar A, Barahona P, Wilkie EE, Sullivan P, Bowen-James R, Syed M, Martincorena I, Abascal F, Sherstyuk A, Bolanos NA, Baber J, Priestley P, Dolman MEM, Fleuren EDG, Gauthier ME, Mould EVA, Gayevskiy V, Gifford AJ, Grebert-Wade D, Strong PA, Manouvrier E, Warby M, Thomas DM, Kirk J, Tucker K, O'Brien T, Alvaro F, McCowage GB, Dalla-Pozza L, Gottardo NG, Tapp H, Wood P, Khaw SL, Hansford JR, Moore AS, Norris MD, Trahair TN, Lock RB, Tyrrell V, Haber M, Marshall GM, Ziegler DS, Ekert PG, Cowley MJ. Wong M, et al. Among authors: cowley mj. Nat Med. 2020 Nov;26(11):1742-1753. doi: 10.1038/s41591-020-1072-4. Epub 2020 Oct 5. Nat Med. 2020. PMID: 33020650
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
Khuong-Quang DA, Brown LM, Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow LE, Gifford AJ, Rodriguez M, Desai J, Fox SB, Haber M, Ziegler DS, Hansford JR, Marshall GM, Cowley MJ, Ekert PG. Khuong-Quang DA, et al. Among authors: cowley mj. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005710. doi: 10.1101/mcs.a005710. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33144287 Free PMC article.
537 results