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186 results

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Page 1
TERT structural rearrangements in metastatic pheochromocytomas.
Dwight T, Flynn A, Amarasinghe K, Benn DE, Lupat R, Li J, Cameron DL, Hogg A, Balachander S, Candiloro ILM, Wong SQ, Robinson BG, Papenfuss AT, Gill AJ, Dobrovic A, Hicks RJ, Clifton-Bligh RJ, Tothill RW. Dwight T, et al. Among authors: papenfuss at. Endocr Relat Cancer. 2018 Jan;25(1):1-9. doi: 10.1530/ERC-17-0306. Epub 2017 Oct 3. Endocr Relat Cancer. 2018. PMID: 28974544
BRAF/NRAS wild-type melanomas have a high mutation load correlating with histologic and molecular signatures of UV damage.
Mar VJ, Wong SQ, Li J, Scolyer RA, McLean C, Papenfuss AT, Tothill RW, Kakavand H, Mann GJ, Thompson JF, Behren A, Cebon JS, Wolfe R, Kelly JW, Dobrovic A, McArthur GA. Mar VJ, et al. Among authors: papenfuss at. Clin Cancer Res. 2013 Sep 1;19(17):4589-98. doi: 10.1158/1078-0432.CCR-13-0398. Epub 2013 Jul 5. Clin Cancer Res. 2013. PMID: 23833303
Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads.
Schröder J, Hsu A, Boyle SE, Macintyre G, Cmero M, Tothill RW, Johnstone RW, Shackleton M, Papenfuss AT. Schröder J, et al. Among authors: papenfuss at. Bioinformatics. 2014 Apr 15;30(8):1064-1072. doi: 10.1093/bioinformatics/btt767. Epub 2014 Jan 2. Bioinformatics. 2014. PMID: 24389656 Free PMC article.
Socrates has single-nucleotide resolution, identifies micro-homologies and untemplated sequence at break points, has high sensitivity and high specificity and takes advantage of parallelism for efficient use of resources. ...AVAILABILITY AND IMPLEMENTATION: Socrates is rel …
Socrates has single-nucleotide resolution, identifies micro-homologies and untemplated sequence at break points, has high sensitivity …
Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.
Li J, Doyle MA, Saeed I, Wong SQ, Mar V, Goode DL, Caramia F, Doig K, Ryland GL, Thompson ER, Hunter SM, Halgamuge SK, Ellul J, Dobrovic A, Campbell IG, Papenfuss AT, McArthur GA, Tothill RW. Li J, et al. Among authors: papenfuss at. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.
Wong SQ, Waldeck K, Vergara IA, Schröder J, Madore J, Wilmott JS, Colebatch AJ, De Paoli-Iseppi R, Li J, Lupat R, Semple T, Arnau GM, Fellowes A, Leonard JH, Hruby G, Mann GJ, Thompson JF, Cullinane C, Johnston M, Shackleton M, Sandhu S, Bowtell DD, Johnstone RW, Fox SB, McArthur GA, Papenfuss AT, Scolyer RA, Gill AJ, Hicks RJ, Tothill RW. Wong SQ, et al. Among authors: papenfuss at. Cancer Res. 2015 Dec 15;75(24):5228-34. doi: 10.1158/0008-5472.CAN-15-1877. Epub 2015 Dec 1. Cancer Res. 2015. PMID: 26627015
Genomic characterisation of Eμ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene.
Lefebure M, Tothill RW, Kruse E, Hawkins ED, Shortt J, Matthews GM, Gregory GP, Martin BP, Kelly MJ, Todorovski I, Doyle MA, Lupat R, Li J, Schroeder J, Wall M, Craig S, Poortinga G, Cameron D, Bywater M, Kats L, Gearhart MD, Bardwell VJ, Dickins RA, Hannan RD, Papenfuss AT, Johnstone RW. Lefebure M, et al. Among authors: papenfuss at. Nat Commun. 2017 Mar 6;8:14581. doi: 10.1038/ncomms14581. Nat Commun. 2017. PMID: 28262675 Free PMC article.
Detection of clinically relevant early genomic lesions in B-cell malignancies from circulating tumour DNA using a single hybridisation-based next generation sequencing assay.
Blombery PA, Ryland GL, Markham J, Guinto J, Wall M, McBean M, Jones K, Thompson ER, Cameron DL, Papenfuss AT, Prince MH, Dickinson M, Westerman DA. Blombery PA, et al. Among authors: papenfuss at. Br J Haematol. 2018 Oct;183(1):146-149. doi: 10.1111/bjh.14919. Epub 2017 Sep 7. Br J Haematol. 2018. PMID: 28880377 Free article. No abstract available.
186 results