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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: tothill rw. 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
Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study.
Westphalen CB, Federer-Gsponer J, Pauli C, Karapetyan AR, Chalabi N, Durán-Pacheco G, Beringer A, Bochtler T, Cook N, Höglander E, Jin DX, Losa F, Mileshkin L, Moch H, Ross JS, Sokol ES, Tothill RW, Krämer A. Westphalen CB, et al. Among authors: tothill rw. ESMO Open. 2023 Dec;8(6):102035. doi: 10.1016/j.esmoop.2023.102035. Epub 2023 Nov 2. ESMO Open. 2023. PMID: 37922692 Free PMC article.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
CONTRA: copy number analysis for targeted resequencing.
Li J, Lupat R, Amarasinghe KC, Thompson ER, Doyle MA, Ryland GL, Tothill RW, Halgamuge SK, Campbell IG, Gorringe KL. Li J, et al. Among authors: tothill rw. Bioinformatics. 2012 May 15;28(10):1307-13. doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2. Bioinformatics. 2012. PMID: 22474122 Free PMC article.
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab; Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG. Thompson ER, et al. Among authors: tothill rw. PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27. PLoS Genet. 2012. PMID: 23028338 Free PMC article.
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: tothill rw. 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
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: tothill rw. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
77 results