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Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution.
Rodriguez-Meira A, Norfo R, Wen S, Chédeville AL, Rahman H, O'Sullivan J, Wang G, Louka E, Kretzschmar WW, Paterson A, Brierley C, Martin JE, Demeule C, Bashton M, Sousos N, Moralli D, Subha Meem L, Carrelha J, Wu B, Hamblin A, Guermouche H, Pasquier F, Marzac C, Girodon F, Vainchenker W, Drummond M, Harrison C, Chapman JR, Plo I, Jacobsen SEW, Psaila B, Thongjuea S, Antony-Debré I, Mead AJ. Rodriguez-Meira A, et al. Nat Genet. 2023 Sep;55(9):1531-1541. doi: 10.1038/s41588-023-01480-1. Epub 2023 Sep 4. Nat Genet. 2023. PMID: 37666991 Free PMC article.
Safety considerations when treating myelofibrosis.
O'Sullivan JM, McLornan DP, Harrison CN. O'Sullivan JM, et al. Expert Opin Drug Saf. 2016 Sep;15(9):1185-92. doi: 10.1080/14740338.2016.1185414. Epub 2016 Jun 1. Expert Opin Drug Saf. 2016. PMID: 27187785 Review.
Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets.
Psaila B, Wang G, Rodriguez-Meira A, Li R, Heuston EF, Murphy L, Yee D, Hitchcock IS, Sousos N, O'Sullivan J, Anderson S, Senis YA, Weinberg OK, Calicchio ML; NIH Intramural Sequencing Center; Iskander D, Royston D, Milojkovic D, Roberts I, Bodine DM, Thongjuea S, Mead AJ. Psaila B, et al. Mol Cell. 2020 May 7;78(3):477-492.e8. doi: 10.1016/j.molcel.2020.04.008. Mol Cell. 2020. PMID: 32386542 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Spliceosome mutations are common in persons with myeloproliferative neoplasm-associated myelofibrosis with RBC-transfusion-dependence and correlate with response to pomalidomide.
Chowdhury O, O'Sullivan J, Barkas N, Wang G, Buck G, Hamblin A, Tefferi A, Al-Ali HK, Barosi G, Devos T, Gisslinger H, Jiang Q, Kiladjian JJ, Mesa R, Passamonti F, Ribrag V, Schiller G, Vannucchi AM, Zhou D, McMullin MF, Zhong J, Gale RP, Mead AJ; RESUME trialists. Chowdhury O, et al. Leukemia. 2021 Apr;35(4):1197-1202. doi: 10.1038/s41375-020-0979-6. Epub 2020 Aug 7. Leukemia. 2021. PMID: 32770086 Free PMC article. No abstract available.
1,815 results