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A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Fox LC, Tan M, Brown AL, Arts P, Thompson E, Ryland GL, Lickiss J, Scott HS, Poplawski NK, Phillips K, Came NA, James P, Ting SB, Ritchie DS, Szer J, Hahn CN, Schwarer A, Blombery P. Fox LC, et al. Among authors: thompson e. Br J Haematol. 2020 Sep;190(5):e297-e301. doi: 10.1111/bjh.16819. Epub 2020 Jun 3. Br J Haematol. 2020. PMID: 32488879 Free article. No abstract available.
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. 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. 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.
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. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma.
Blombery P, Thompson ER, Jones K, Arnau GM, Lade S, Markham JF, Li J, Deva A, Johnstone RW, Khot A, Prince HM, Westerman D. Blombery P, et al. Haematologica. 2016 Sep;101(9):e387-90. doi: 10.3324/haematol.2016.146118. Epub 2016 May 19. Haematologica. 2016. PMID: 27198716 Free PMC article. No abstract available.
4,198 results