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The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY, Ling JP, Zhang J, Helmenstine E, Walter W, Tsakiroglou P, Bergman RE, Philippe C, Manley JL, Rouault-Pierre K, Li B, Wiseman DH, Batta K, Ouseph MM, Bernard E, Dubner B, Li X, Haferlach T, Koget A, Fazal S, Jain T, Gocke CD, DeZern AE, Dalton WB. Choi IY, et al. Among authors: fazal s. Blood Adv. 2024 May 17:bloodadvances.2023011260. doi: 10.1182/bloodadvances.2023011260. Online ahead of print. Blood Adv. 2024. PMID: 38759096
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. Among authors: fazal s. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
Fazal S, Danzi MC, Xu I, Kobren SN, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F, Wuchty S, Tekin M, Züchner S, Aguiar-Pulido V. Fazal S, et al. Genome Biol. 2024 Jan 31;25(1):39. doi: 10.1186/s13059-024-03171-4. Genome Biol. 2024. PMID: 38297326 Free PMC article.
Oral decitabine-cedazuridine versus intravenous decitabine for myelodysplastic syndromes and chronic myelomonocytic leukaemia (ASCERTAIN): a registrational, randomised, crossover, pharmacokinetics, phase 3 study.
Garcia-Manero G, McCloskey J, Griffiths EA, Yee KWL, Zeidan AM, Al-Kali A, Deeg HJ, Patel PA, Sabloff M, Keating MM, Zhu N, Gabrail NY, Fazal S, Maly J, Odenike O, Kantarjian H, DeZern AE, O'Connell CL, Roboz GJ, Busque L, Buckstein R, Amin H, Randhawa J, Leber B, Shastri A, Dao KH, Oganesian A, Hao Y, Keer HN, Azab M, Savona MR. Garcia-Manero G, et al. Among authors: fazal s. Lancet Haematol. 2024 Jan;11(1):e15-e26. doi: 10.1016/S2352-3026(23)00338-1. Lancet Haematol. 2024. PMID: 38135371 Clinical Trial.
127 results