SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

Siepel, A., Bejerano, G., Pedersen, J. S., Hinrichs, A. S., Hou, M., Rosenbloom, K., Clawson, H., Spieth, J., Hillier, L. W., Richards, S., et al. (2005) · Genome Research · doi:10.1101/gr.3715005 · Cited by 3,971 · cited 2×

Frequent pathway mutations of splicing machinery in myelodysplasia

Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029

Clinical and biological implications of driver mutations in myelodysplastic syndromes

Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832

Inducible Gene Targeting in Mice

Kühn, R., Schwenk, F., Aguet, M., & Rajewsky, K. (1995) · Science · doi:10.1126/science.7660125 · Cited by 1,641

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

Haferlach, T., Nagata, Y., Grossmann, V, Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., et al. (2014) · Leukemia · doi:10.1038/leu.2013.336 · Cited by 1,532

Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation

Moran-Crusio, K., Reavie, L., Shih, A., Abdel-Wahab, O., Ndiaye-Lobry, D., Lobry, C., Figueroa, M. E., Vasanthakumar, A., Patel, J., Zhao, X., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.06.001 · Cited by 1,339

Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103283 · Cited by 1,222

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.621 · Cited by 1,139

SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

Wang, L., Lawrence, M. S., Wan, Y., Stojanov, P., Sougnez, C. L., Stevenson, K. E., Werner, L. L., Sivachenko, A., DeLuca, D. S., Zhang, L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1109016 · Cited by 1,103

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

Quesada, V., Conde, L., Villamor, N., Ordóñez, G. R., Jares, P., Bassaganyas, L., Ramsay, A. J., Beà, S., Pinyol, M., Martínez‐Trillos, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.1032 · Cited by 1,022

Pathogenic Roles of RNA-Binding Proteins in Sarcomas

Hai, Y., Kawachi, A., He, X., & Yoshimi, A. (2022) · Cancers · doi:10.3390/cancers14153812 · Cited by 7

Association of EZH 2 protein expression by immunohistochemistry in myelodysplasia related neoplasms with mutation status, cytogenetics and clinical outcomes

McGraw, K. L., Nguyen, J., Ali, N. H. A., Komrokji, R. S., Sallman, D. A., Zhang, X., Song, J., Padron, E., Lancet, J. E., Moscinski, L. C., et al. (2018) · British Journal of Haematology · doi:10.1111/bjh.15099 · Cited by 7

Immune Dysregulation in MDS: The Role of Cytokines and Immune Cells

D’Silva, S. Z., Rajadhyaksha, S. B., & Singh, M. M. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.82101 · Cited by 7

Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells

Lyu, P., Agarwal, G., Guo, C., Sychla, A., Bourgeois, W., Ye, T., Weng, C., Antoszewski, M., Joubran, S., Caulier, A., et al. (2026) · Cell · doi:10.1016/j.cell.2026.04.014 · Cited by 6

Targeting SRSF2 mutations in leukemia with RKI-1447: A strategy to impair cellular division and nuclear structure

Su, M., Fleischer, T., Grosheva, I., Horev, M. B., Olszewska, M., Mattioli, C. C., Barr, H. M., Plotnikov, A. N., Carvalho, S., Moskovich, Y., et al. (2024) · iScience · doi:10.1016/j.isci.2024.109443 · Cited by 6

Function of serine/arginine-rich splicing factors in hematopoiesis and hematopoietic malignancies

Zhang, H., Zhu, H., Peng, H., & Sheng, Y. (2024) · Cancer Cell International · doi:10.1186/s12935-024-03438-7 · Cited by 7

Pathophysiology of Myelodysplastic Syndromes

Fontenay, M., Farhat, B., & Boussaid, I. (2021) · Hemato · doi:10.3390/hemato2030030 · Cited by 6

Maturation State-Specific Alternative Splicing in FLT3-ITD and NPM1 Mutated AML

Wojtuszkiewicz, A., van der Werf, I. M., Hütter, S., Walter, W., Baer, C. R., Kern, W., Janssen, J. J. W. M., Ossenkoppele, G. J., Haferlach, C., Cloos, J. J., et al. (2021) · Cancers · doi:10.3390/cancers13163929 · Cited by 6

Mouse Models of Frequently Mutated Genes in Acute Myeloid Leukemia

Mohanty, S., & Heuser, M. (2021) · Cancers · doi:10.3390/cancers13246192 · Cited by 6

Background splicing as a predictor of aberrant splicing in genetic disease

Alexieva, D., Long, Y., Sarkar, R., Dhayan, H., Bruet, E., Winston, R. M. L., Vořechovský, I., Castellano, L., & Dibb, N. J. (2022) · RNA Biology · doi:10.1080/15476286.2021.2024031 · Cited by 6

A multimodal analysis of genomic and RNA splicing features in myeloid malignancies

Durmaz, A., Gurnari, C., Hershberger, C. E., Pagliuca, S., Daniels, N. J., Awada, H. K., Awada, H., Ademà, V., Mori, M., Ponvilawan, B., et al. (2023) · iScience · doi:10.1016/j.isci.2023.106238 · Cited by 6

Characteristics of patients with myelodysplastic neoplasm and spliceosome mutations

Urrutia, S., Li, Z., Almanza, E., Bataller, Á., Kanagal‐Shamanna, R., Senapati, J., Sasaki, K., Chien, K. S., Bravo, G. M., Dinardo, C. D., et al. (2023) · Leukemia · doi:10.1038/s41375-023-01899-9 · Cited by 6

Contemporary insights into the pathogenesis and treatment of chronic myeloproliferative neoplasms

Mughal, T. I., Abdel-Wahab, O. I., Rampal, R. K., Mesa, R. A., Koschmieder, S., Levine, R. L., Hehlmann, R., Saglio, G. N., Barbui, T., & Etten, R. A. V. (2016) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2016.1185783 · Cited by 6

Mouse Models of Myeloid MalignanciesPreprint

Basheer, F., & Vassiliou, G. S. (2020) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a035535 · Cited by 6

Unsupervised reference-free inference reveals unrecognized regulated transcriptomic complexity in human single cellsPreprint

Dehghannasiri, R., Henderson, G., Bierman, R., Baharav, T. Z., Chaung, K., Wang, P., & Salzman, J. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.12.06.519414 · Cited by 5

Humanized mouse models in MDS

Munteanu, R. A., Gulei, D., Moldovan, C. S., Azzoni, E., Belver, L., Feder, R., Pîrv, S., Buzoianu, A. D., Einsele, H., Mittelman, M., et al. (2025) · Cell Death and Disease · doi:10.1038/s41419-025-07861-0 · Cited by 5

PARP inhibition leads to synthetic lethality with key splicing-factor mutations in myelodysplastic syndromes

Zhang, F., Sun, J., Zhang, L., Li, R., Wang, Y., Geng, H., Shen, C., Li, L., & Chen, L. (2024) · British Journal of Cancer · doi:10.1038/s41416-024-02729-0 · Cited by 5

Clonal hematopoiesis of indeterminate potential (CHIP): A potential contributor to lymphoma

Luo, Q., Zhou, L., Luo, D., & Yu, L. (2024) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2024.104589 · Cited by 5

Rare genetic associations with human lifespan in UK Biobank are enriched for oncogenic genes

Park, J. Y., Peña‐Tauber, A., Talozzi, L., Greicius, M. D., & Guen, Y. L. (2025) · Nature Communications · doi:10.1038/s41467-025-57315-6 · Cited by 7

Target practice: Opportunities for therapeutic intervention in CHIP and CCUS

Mohammad, A., Mascarenhas, J. O., Marcellino, B. K., & Nathan, D. I. (2025) · Blood Reviews · doi:10.1016/j.blre.2025.101323 · Cited by 5

Splicing dysfunction and disease: The case of granulopoiesis

Keightley, M.-C., & Lieschke, G. J. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.08.048 · Cited by 5

Novel therapeutic targets for chronic myelomonocytic leukemia

Lasho, T. L., & Patnaik, M. M. (2021) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2021.101244 · Cited by 5

Clinicopathologic spectrum of myeloid neoplasms with concurrent myeloproliferative neoplasm driver mutations and SRSF2 mutations

Tashakori, M., Khoury, J. D., Routbort, M. J., Patel, K. P., Wang, S. A., Ok, C. Y., Hussein, S. E., Kanagal‐Shamanna, R., Luthra, R., Hu, S., et al. (2022) · Modern Pathology · doi:10.1038/s41379-022-01118-3 · Cited by 5

New association between splicing factor‐coding gene polymorphisms and the risk of acute lymphoblastic leukemia in southern Chinese children: A five‐center case–control study

Deng, D., Luo, A., Li, M., Yan, Y., Cai, M., Liu, S., Liu, X., Wang, X., Zhang, X., Jiang, H., et al. (2023) · The Journal of Gene Medicine · doi:10.1002/jgm.3474 · Cited by 5

Molecular Drivers of Myelodysplastic Neoplasms (MDS)—Classification and Prognostic Relevance

Hoff, F. W., & Madanat, Y. F. (2023) · Cells · doi:10.3390/cells12040627 · Cited by 8

Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting

Královičová, J., Knut, M., Cross, N. C. P., & Vořechovský, I. (2016) · Scientific Reports · doi:10.1038/srep18741 · Cited by 6

Chromatin Profiling of CBFA2T3-GLIS2 AMLs Identifies Key Transcription Factor Dependencies and BRG1 Inhibition as a Novel Therapeutic StrategyPreprint

Kaonis, S., Smith, J. L., Katiyar, N., Merrill, M., Hyelkma, T., Namciu, S. J., Le, Q., Babaeva, E., Ishida, T., Morris, S. M., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.30.555598 · Cited by 5

Myelodysplastic syndrome progress to acute myeloid leukemia: new insights and updates

Zhang, Y., Yan, L., Fan, C., Zhao, B., Chen, M., Hao, X., Zhu, G., Jia, Y., Xu, Y., & Shi, Z. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1769944 · Cited by 4

Minor introns impact on hematopoietic malignancies

Nishimura, K., Saika, W., & Inoue, D. (2024) · Experimental Hematology · doi:10.1016/j.exphem.2024.104173 · Cited by 4

SRSF2 overexpression induces transcription-/replication-dependent DNA double-strand breaks and interferes with DNA repair pathways to promote lung tumor progression

Khalifé, M., Jia, T., Caron, P., Shreim, A., Genoux, A., Cristini, A., Pucciarelli, A., Leverve, M., Lepeltier, N., García‐Rodríguez, N., et al. (2025) · NAR Cancer · doi:10.1093/narcan/zcaf011 · Cited by 4

Myelodysplastic Neoplasms (MDS): Pathogenesis and Therapeutic Prospects

Li, X., Zou, C., Xiang, X., Zhao, L., Chen, M., Yang, C., & Wu, Y. (2025) · Biomolecules · doi:10.3390/biom15060761 · Cited by 5

Single-cell long-read genotyping of transcripts reveals discrete mechanisms of clonal evolution in post-MPN AML

Grabek, J., Straube, J., Cooper, L. T., Haldar, R., Zhang, R., Dulige, I., Barker, M. A., Gatehouse, W., Christensen, H., Amor, G. M., et al. (2026) · Blood Advances · doi:10.1182/bloodadvances.2025018902 · Cited by 4

The Eµ-hnRNP K Murine Model of Lymphoma: Novel Insights into the Role of hnRNP K in B-Cell Malignancies

Malaney, P., Velasco‐Estevez, M., Aguilar-Garrido, P., Aitken, M. J. L., Chan, L. E., Zhang, X., Post, S. M., & Gallardo, M. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.634584 · Cited by 5

Transcription Factors, R-Loops and Deubiquitinating Enzymes: Emerging Targets in Myelodysplastic Syndromes and Acute Myeloid Leukemia

Barabino, S. M. L., Citterio, E., & Ronchi, A. E. (2021) · Cancers · doi:10.3390/cancers13153753 · Cited by 4

ASpediaFI: Functional Interaction Analysis of Alternative Splicing Events

Lee, K., Yu, D., Hyung, D., Cho, S. Y., & Park, C. (2022) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2021.10.004 · Cited by 4

Splenic B-Cell Lymphomas with Diffuse Cyclin D1 Protein Expression and Increased Prolymphocytic Cells: A Previously Unrecognized Diagnostic Pitfall

Algashaamy, K. J., Tan, Y., Mackrides, N., Alencar, A. J., Peng, J., Rosenblatt, J. D., Alderuccio, J. P., Lossos, I. S., Vega, F., & Chapman, J. R. (2018) · Case Reports in Hematology · doi:10.1155/2018/5761953 · Cited by 4

The Etiology of Acute Leukemia

Nichol, J. N., Kinal, M., & Miller, W. H. (2017) · Springer eBooks · doi:10.1007/978-3-319-64263-5_12 · Cited by 4

The Many Roads from Alternative Splicing to Cancer: Molecular Mechanisms Involving Driver Genes

Gimeno-Valiente, F., López‐Rodas, G., Castillo, J., & Franco, L. (2024) · Cancers · doi:10.3390/cancers16112123 · Cited by 3

Clonal Hematopoiesis in Nonmalignant Disease: Functional Consequences of Mutated Immune Cells by Clonal Hematopoiesis in the Diseased Tissue

Koh, Y., Tengesdal, I. W., & Jaiswal, S. (2025) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-111523-023442 · Cited by 3

Evolutionary trajectories of myelodysplastic syndromes/neoplasms

Creignou, M., Sarchi, M., Bernard, E., & Malcovati, L. (2026) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2026.01.006 · Cited by 4

Mutant SRSF2-associated impaired erythropoiesis is defined by increased mTORC1 signaling due to FYN missplicing

Jutzi, J. S., Crosse, E. I., Kim, C. J., van Gasteren, B., Laurore, C., Rolles, B., Kramer, F., Tishena, A., Rocha, A. V., Wazir, M., et al. (2026) · Leukemia · doi:10.1038/s41375-026-02892-8 · Cited by 3

A cross-trait study of lung cancer and its related respiratory diseases based on large-scale exome sequencing population

Jiang, Y., Li, H., Li, Z., Du, S., Zhang, R., Zhao, Y., Christiani, D. C., Shen, S., & Chen, F. (2024) · Translational Lung Cancer Research · doi:10.21037/tlcr-24-4 · Cited by 4

Splicing the Difference: Harnessing the Complexity of the Transcriptome in Hematopoiesis

Maul-Newby, H. M., & Halene, S. (2024) · Experimental Hematology · doi:10.1016/j.exphem.2024.104655 · Cited by 3

Identification of UBA7 expression downregulation in myelodysplastic neoplasm with SF3B1 mutations

Alatawi, S. M., Alzahrani, O. R., Alatawi, F. A., Almazni, I. A., Almotiri, A., & Almsned, F. M. (2025) · Scientific Reports · doi:10.1038/s41598-025-95738-9 · Cited by 3

DNA methylation in primary myelofibrosis is partly associated with driver mutations and distinct from other myeloid malignancies

Torlak, E. D., Tharmapalan, V., Kricheldorf, K., Schifflers, J., Caduc, M. J., Zenke, M., Koschmieder, S., & Wagner, W. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01877-1 · Cited by 3

Altered splicing and intronic polyadenylation of CSF3R via a cryptic exon in acute myeloid leukemia

Druhan, L. J., Lance, A. L., Hamilton, A., Steuerwald, N., Tjaden, E., & Avalos, B. R. (2020) · Leukemia Research · doi:10.1016/j.leukres.2020.106349 · Cited by 3

Chronic Myelomonocytic Leukemia Gold Jubilee

Solary, É., & Itzykson, R. (2021) · Hemato · doi:10.3390/hemato2030026 · Cited by 3

The Role of Avapritinib for the Treatment of Systemic Mastocytosis

Sumbly, V., Landry, I., Iqbal, S., Bhatti, Z., Alshamam, M. S., Ashfaq, S., & Rizzo, V. (2021) · Cureus · doi:10.7759/cureus.18385 · Cited by 3

The etiology of clonal mosaicism in human aging and disease

Massaar, S., & Sanders, M. A. (2023) · Aging and Cancer · doi:10.1002/aac2.12061 · Cited by 4

Identification of alternative splicing associated with clinical features: from pan-cancers to genitourinary tumors

Duan, C., Zhang, Y., Li, L., Liu, K., Yao, X., Wu, X., Li, B., Mao, X., Wu, H., Liu, H., et al. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1249932 · Cited by 3

Dynamics of measurable residual disease for risk stratification and guiding allogeneic transplant in acute myeloid leukaemia patients with myelodysplasia‐related mutations in first remission

Jiang, L., Cheng, J., Sun, J., Zhang, Y., Wu, Q. V., Huang, Y., Long, Z., Yan, P., & Jiang, X. (2024) · British Journal of Haematology · doi:10.1111/bjh.19917 · Cited by 3

Molecular Pathogenesis and Treatment of Myelodysplastic Syndromes

Nakajima, H. (2020) · Internal Medicine · doi:10.2169/internalmedicine.4214-19 · Cited by 3

Unpacking the genetic etiology of uveal melanoma

Thornton, S., Kalirai, H., Aughton, K., & Coupland, S. E. (2020) · Expert Review of Ophthalmology · doi:10.1080/17469899.2020.1785872 · Cited by 3

RNA splicing factors in normal hematopoiesis and hematologic malignancies: novel therapeutic targets and strategies

Li, Z., He, Z., Wang, J., & Kong, G. (2023) · Journal of Leukocyte Biology · doi:10.1093/jleuko/qiac015 · Cited by 3

Nested small open reading frames are translated from alternative transcriptsPreprint

Su, H., Katz, S. G., & Slavoff, S. A. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.22.619581 · Cited by 4

Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective

Basquiera, A. L., Andreoli, V., Grille, S., & Belli, C. (2025) · Genes · doi:10.3390/genes16060687 · Cited by 2

Aberrant splicing of MBD1 reshapes the epigenome to drive convergent myeloerythroid defects in MDS

Chen, H. T., Joshi, P., Cathelin, S., Jahangiri, S., Adeel, S. A., Xu, J., Tsao, E., Mo, Y., Kealy, D., Dowle, A., et al. (2026) · Blood · doi:10.1182/blood.2025030731 · Cited by 2

The Impact of Splicing Factor Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Progression

Izumi, T., Kawachi, A., & Yoshimi, A. (2025) · Frontiers in Bioscience-Landmark · doi:10.31083/fbl38825 · Cited by 2

Vulnerability of SRSF2 -mutated chronic myelomonocytic leukemia to perturbation of the cGAS-STING pathway

Chen, Y., Chan, K. C., Sin, C., Zheng, L., Wang, D., Tu, L., He, F., Hui, W. H. J., Leung, H. K., Ha, S., et al. (2025) · Blood Advances · doi:10.1182/bloodadvances.2025017005 · Cited by 2

Synergistic intragenic epigenetic deregulation by IDH2 and SRSF2 mutations causes mis-splicing of key transcriptional regulators

Telonis, A. G., Stanley, R. F., Adelman, E. R., Yoshimi, A., Adele, A. A., Cruz, A., Wiseman, D. H., Abdel-Wahab, O. I., & Figueroa, M. E. (2026) · Science Advances · doi:10.1126/sciadv.adu8292 · Cited by 2

Sequence-dependent splicing dysregulation drives therapy resistance in pediatric AML

Yue, H., Xiao, P., Lei, Q. I. N., Gao, L., Zhao, Y., Sui, J., Hu, W., Zhou, L., Han, N., Lv, X., et al. (2026) · Cell Reports Medicine · doi:10.1016/j.xcrm.2025.102542 · Cited by 2

The Interplay of Splicing and Metabolism in Cancer

Voss, D. M., Cui, Y., & Klein, P. S. (2026) · Cells · doi:10.3390/cells15121117 · Cited by 3

Murine Modeling of Myeloproliferative Neoplasms

Chen, K., & Shih, A. H. (2020) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2020.11.007 · Cited by 1

Recent advances in the application of induced pluripotent stem cell technology to the study of myeloid malignancies

Tatwavedi, D., Pellagatti, A., & Boultwood, J. (2023) · Advances in Biological Regulation · doi:10.1016/j.jbior.2023.100993 · Cited by 2

Alternative Splicing: A Potential Therapeutic Target in Hematological Malignancies

Temaj, G., Chichiarelli, S., Saha, S., Telkoparan‐Akillilar, P., Nuhii, N., Hadžiselimović, R., & Saso, L. (2024) · Hematology Reports · doi:10.3390/hematolrep16040066 · Cited by 2

Aberrant splicing of CHEK1 is a driver of megakaryocytic dysplasia in U2AF1S34F mutant myelodysplastic neoplasms

Zhang, W., Li, B., Liu, J., Yan, Y., Yang, L., Qin, T., Xu, Z., Sun, Q., Jia, Y., Wang, H., et al. (2025) · Leukemia · doi:10.1038/s41375-025-02684-6 · Cited by 2

Exons of Leukemia Suppressor Genes: Creative Assembly Required

Asnani, M., & Thomas‐Tikhonenko, A. (2018) · Trends in cancer · doi:10.1016/j.trecan.2018.10.005 · Cited by 2

Splicing the MDS genome

Alderton, G. K. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3975 · Cited by 2

Novel therapeutic strategies in myelodysplastic syndromes

Chung, S. S. (2016) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000211 · Cited by 2

ZRSR2mutation in a child with refractory macrocytic anemia and Down Syndrome

Srinath, M., Coberly, E. A., Ebersol, K., Binz, K., Laziuk, K., Gunning, W. T., Gruner, B. A., Hammer, R., & Sathi, B. K. (2019) · Pediatric Hematology and Oncology · doi:10.1080/08880018.2019.1621969 · Cited by 2

Targeting EZH2 oncogenic splicing: decoding the regulatory network and antisense correctionPreprint

Islam, M. R., Nagar, P., McNaughton, N., Heeamoni, S. A., Hasan, M. M., Kandel, S., Mukta, I. J., Tsakiroglou, P., Dalton, W. B., Abdel-Wahab, O. I., et al. (2026) · Genes & Development · doi:10.1101/gad.353628.126 · Cited by 2

Multifaced regulator: RNA binding proteins and their roles in hematopoiesis

Ren, Y., Huo, Y., Li, W., Wang, F., & Yu, J. (2019) · Blood Science · doi:10.1097/bs9.0000000000000008 · Cited by 1

The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis

Lv, Y., Li, J., Yu, S., Zhang, Y., Hu, H., Sun, K., Jia, D., Han, Y., Tu, J., Huang, Y., et al. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.105772 · Cited by 1

Induced pluripotent stem cell-based modelling of disease evolution in myeloid leukemia: MDS to AML

Boultwood, J. (2025) · Advances in Biological Regulation · doi:10.1016/j.jbior.2025.101119 · Cited by 1

Nanopore Sequencing Reveals Novel Alternative Splice Variants of EZH2 in Pediatric Medulloblastoma

Ramírez-Chiquito, J. C., Rosete-Ambriz, S. A., Olguín-García, A. C., Eguía-Aguilar, M. D. P., Niembro-Zúñiga, A., Marhx-Bracho, A., Perezpeña-Diazconti, M., & Juárez-Méndez, S. (2025) · Biomedicines · doi:10.3390/biomedicines13102461 · Cited by 1

Splicing Factor Mutations in Chronic Myelomonocytic Leukemia: Biological Consequences and Therapeutic Implications

Steinauer, N., & Patnaik, M. M. (2025) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-025-00763-0 · Cited by 1

SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes

Dastpak, M., Mimoso, C. A., Farshchian, M., Paraggio, C. L., Leonard, C. E., Yin, S., Chi, B., Nassar, K. W., Rowe, R. G., Zhang, J., et al. (2025) · PLoS ONE · doi:10.1371/journal.pone.0334361 · Cited by 1

CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single‐Center Retrospective Study

Yang, J., Wang, L. Y., Zhu, M., Xiang, X., Wu, Y., Niu, T., Gong, Y., Chen, X., He, C., Dai, Y., et al. (2025) · Cancer Medicine · doi:10.1002/cam4.71471 · Cited by 1

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Steuer, J., & Kahraman, A. (2026) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2026.1774239 · Cited by 1

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Xiao, Y., Dozic, A. V., Deplus, R., Benbarche, S., Stanley, R. F., Fuks, F., Abdel-Wahab, O. I., Lareau, C. A., & David, Y. (2026) · Journal of the American Chemical Society · doi:10.1021/jacs.5c20726 · Cited by 1

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Wang, Y., He, C., Chen, C., Ma, X., Gao, X., Li, G., & Li, T. (2026) · Cell Communication and Signaling · doi:10.1186/s12964-026-02979-w · Cited by 1

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Yuan, X., & Yang, C. (2026) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.6c00234 · Cited by 1

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Jingele, X., Sun, Q., Li, X., Li, X., Kon, A., Tao, X., & Yoshimi, A. (2026) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hyag140 · Cited by 1

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Kulasekararaj, A. G., Kosmider, O., & Mufti, G. J. (2018) · Hematologic malignancies · doi:10.1007/978-3-319-76879-3_2 · Cited by 1

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Salvaris, R., Allanson, B. M., & Cheah, C. Y. (2023) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2023.2192316 · Cited by 1

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Fontenay, M., Boussaid, I., & Chapuis, N. (2023) · Bulletin du Cancer · doi:10.1016/j.bulcan.2023.02.026 · Cited by 1

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He, J., Qiu, W., Li, Y., Wei, C., Bai, Z., Jia, J., & Cai, H. (2023) · Iranian Journal of Public Health · doi:10.18502/ijph.v52i7.13233 · Cited by 1

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Miano, M., Bertola, N., Grossi, A., Dell’Orso, G., Regis, S., Rusmini, M., Uva, P., Vozzi, D., Fioredda, F., Palmisani, E., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25042083 · Cited by 1

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Costa, A. N., & Breccia, M. (2025) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2025.03.007 · Cited by 1

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Paira, S., & Borden, K. L. B. (2025) · RNA Biology · doi:10.1080/15476286.2025.2503040 · Cited by 1

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Victoria, K. E., & Freedman, I. G. (2018) · Anticancer Research · doi:10.21873/anticanres.12922 · Cited by 1

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Fuchs, O. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.73936 · Cited by 1

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Rahman, M. A. (2018) · Genomics & Gene Therapy International Journal · doi:10.23880/ggtij-16000105 · Cited by 1

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Fergany, A., & Tatarskiy, V. V. (2020) · Recent Patents on Anti-Cancer Drug Discovery · doi:10.2174/1574892815666200908122402 · Cited by 1

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Ma, Q., Zhang, S., & Zhang, S.-Y. (2022) · Methods · doi:10.1016/j.ymeth.2022.04.002 · Cited by 1

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Nanjo, S., Wu, W., Karachaliou, N., Blakely, C. M., Suzuki, J., Ali, S. M., Kerr, D. L., Olivas, V. R., Shue, J., Rotow, J. K., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.26.356352 · Cited by 1

U2AF1 S34F enhances tumorigenic potential of lung cells by exhibiting synergy with KRAS mutation and altering response to environmental stressPreprint

Liang, C. E., Hrabeta‐Robinson, E., Mehreteab, S., Behera, A. K., Felton, C., Fetter, I. J., Soulette, C. M., Thornton, A. M., Sikandar, S. S., & Brooks, A. N. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.11.612492 · Cited by 1

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Kim, E., Ilagan, J. O., Lee, S. C.-W., Ramakrishnan, A., Chung, Y. R., Micol, J., Murphy, M. E., Kim, M., Zebari, A. S., Buonamici, S., et al. (2015) · Clinical Cancer Research · doi:10.1158/1557-3265.hemmal14-ia36

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Komeno, Y., Huang, Y.-J., Qiu, J., Lin, L., Xu, Y., Zhou, Y., Chen, L., Monterroza, D. D., Li, H., DeKelver, R. C., et al. (2015) · Molecular and Cellular Biology · doi:10.1128/mcb.00202-15 · Cited by 104

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Masaki, S., Ikeda, S., Hata, A., Shiozawa, Y., Kon, A., Ogawa, S., Suzuki, K., Hakuno, F., Takahashi, S., & Kataoka, N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00338 · Cited by 25

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Liang, Y., Tebaldi, T., Rejeski, K., Joshi, P. M., Stefani, G., Taylor, A., Song, Y., Vasic, R., Maziarz, J. D., Balasubramanian, K., et al. (2018) · Leukemia · doi:10.1038/s41375-018-0152-7 · Cited by 98

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