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Page 1
Unraveling 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, Swift A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T, Krapels I, Hoeks M, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos AM, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez L, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K, Babic M, McGovern A, Rawlings L, Vakulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans M, Kuiper RP, Poplawski NK, Barbaro P, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: fox lc. Blood Adv. 2024 Jul 9;8(13):3437-3443. doi: 10.1182/bloodadvances.2023012331. Blood Adv. 2024. PMID: 38662475 Free PMC 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: fox lc. Intern Med J. 2019 Feb;49(2):152-159. doi: 10.1111/imj.14140. Intern Med J. 2019. PMID: 30324755 Review.
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Trainer A, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Blombery P, et al. Haematologica. 2021 Jan 1;106(1):64-73. doi: 10.3324/haematol.2019.237693. Haematologica. 2021. PMID: 32054657 Free PMC article.
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. 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.
Cat-Scratch Disease Masquerading as C3 Glomerulonephritis.
Sutu B, Tio SY, Fox LC, Sasadeusz J, Blombery P, Finlay MJ, Barbour TD. Sutu B, et al. Among authors: fox lc. Kidney Int Rep. 2020 Oct 3;5(12):2388-2392. doi: 10.1016/j.ekir.2020.09.034. eCollection 2020 Dec. Kidney Int Rep. 2020. PMID: 33305138 Free PMC article. No abstract available.
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.
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Blombery P, Ryland GL, Fox LC, Stark Z, Wall M, Jarmolowicz A, Roesley A, Thompson ER, Grimmond SM, Panicker S, Kwok F. Blombery P, et al. Among authors: fox lc. Br J Haematol. 2022 Jul;198(1):196-199. doi: 10.1111/bjh.18178. Epub 2022 Apr 5. Br J Haematol. 2022. PMID: 35381620 No abstract available.
53 results