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Page 1
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: ryland gl. 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. Among authors: ryland gl. 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: ryland gl. 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.
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: ryland gl. 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.
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome.
Opat S, Hearps AC, Thia K, Yuen A, Rogers B, Chachage M, Moore G, Shortt J, Ryland G, Blombery P, Schwarer AP, Noori T, Trapani JA, Jaworowski A, Voskoboinik I. Opat S, et al. Blood. 2018 Feb 8;131(6):699-702. doi: 10.1182/blood-2017-08-803668. Epub 2017 Dec 12. Blood. 2018. PMID: 29233820 Free article. No abstract available.
Canary: an atomic pipeline for clinical amplicon assays.
Doig KD, Ellul J, Fellowes A, Thompson ER, Ryland G, Blombery P, Papenfuss AT, Fox SB. Doig KD, et al. BMC Bioinformatics. 2017 Dec 15;18(1):555. doi: 10.1186/s12859-017-1950-z. BMC Bioinformatics. 2017. PMID: 29246107 Free PMC article.
50 results