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Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Narcis A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T A/Prof, Krapels I, Hoeks MPA, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos A, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez LA, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K MBBS FRACP FRCPA, Babic M, McGovern A, Rawlings L, Valkulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans MC, Kuiper RP, Poplawski N, Barbaro PM, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: blombery p. Blood Adv. 2024 Apr 25:bloodadvances.2023012331. doi: 10.1182/bloodadvances.2023012331. Online ahead of print. Blood Adv. 2024. PMID: 38662475 No abstract available.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: blombery p. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
Matching phenotypes through mismatching genomics.
Fox LC, Blombery P. Fox LC, et al. Among authors: blombery p. Leuk Lymphoma. 2023 Jan;64(1):1-2. doi: 10.1080/10428194.2022.2142058. Epub 2022 Nov 14. Leuk Lymphoma. 2023. PMID: 36373706 No abstract available.
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: blombery p. 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.
Revisiting acquired aplastic anaemia: current concepts in diagnosis and management.
Clucas DB, Fox LC, Wood EM, Hong FS, Gibson J, Bajel A, Szer J, Blombery P, McQuilten ZK, Hiwase D, Firkin F, Cole-Sinclair MF; Australian Aplastic Anaemia Registry Steering Committee. Clucas DB, et al. Among authors: blombery p. Intern Med J. 2019 Feb;49(2):152-159. doi: 10.1111/imj.14140. Intern Med J. 2019. PMID: 30324755 Review.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Efficacy and safety of avatrombopag in combination with immunosuppressive therapy in treatment-naïve and relapsed/refractory severe aplastic anaemia: protocol for the DIAAMOND-Ava-FIRST and DIAAMOND-Ava-NEXT Bayesian Optimal Phase II trials.
McQuilten Z, Heritier S, Fox L, Fox V, Young L, Blombery P, Cunningham I, Curnow J, Higgins A, Hiwase DK, Filshie R, Firkin F, Lacaze P, Mason K, Mills AK, Pepperell D, Patil S, Stevenson W, Szer J, Waters N, Wilson K, Ting S, Wood E. McQuilten Z, et al. Among authors: blombery p. BMJ Open. 2024 Jan 18;14(1):e076246. doi: 10.1136/bmjopen-2023-076246. BMJ Open. 2024. PMID: 38238183 Free PMC article.
200 results