Boultwood, Jacqueline

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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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

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

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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

Acute Myeloid Leukemia ResearchRNA Research and Splicing

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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

Acute Myeloid Leukemia ResearchEpigenetics and DNA Methylation

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The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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Molecular International Prognostic Scoring System for Myelodysplastic Syndromes

Bernard, E., Tuechler, H., Greenberg, P. L., Hasserjian, R. P., Arango Ossa, J. E., Nannya, Y., Devlin, S. M., Creignou, M., Pinel, P., Monnier, L., et al. (2022) · NEJM Evidence

Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processes

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Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

Bernard, E., Nannya, Y., Hasserjian, R. P., Devlin, S. M., Tuechler, H., Medina-Martinez, J. S., Yoshizato, T., Shiozawa, Y., Saiki, R., Malcovati, L., et al. (2020) · Nature Medicine

Acute Myeloid Leukemia ResearchCancer-related Molecular Pathways

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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

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Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

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Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

Boultwood, J., Perry, J., Pellagatti, A., Fernandez-Mercado, M., Fernandez-Santamaria, C., Calasanz, M. J., Larrayoz, M. J., Garcia-Delgado, M., Giagounidis, A., Malcovati, L., et al. (2010) · Leukemia

Acute Myeloid Leukemia ResearchChromatin Remodeling and Cancer

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TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups

for the International Working Group for MDS Molecular Prognostic Committee, Haase, D., Stevenson, K. E., Neuberg, D., Maciejewski, J. P., Nazha, A., Sekeres, M. A., Ebert, B. L., Garcia-Manero, G., Haferlach, C., et al. (2019) · Leukemia

Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processes

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Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS

Barreyro, L., Will, B., Bartholdy, B., Zhou, L., Todorova, T. I., Stanley, R. F., Ben-Neriah, S., Montagna, C., Parekh, S., Pellagatti, A., et al. (2012) · Blood

Acute Myeloid Leukemia ResearchHematopoietic Stem Cell Transplantation

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Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline

Hennrich, M. L., Romanov, N., Horn, P., Jaeger, S., Eckstein, V., Steeples, V., Ye, F., Ding, X., Poisa-Beiro, L., Lai, M. C., et al. (2018) · Nature Communications

Hematopoietic Stem Cell TransplantationGenetics, Aging, and Longevity in Model Organisms

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Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

Scharenberg, C., Giai, V., Pellagatti, A., Saft, L., Dimitriou, M., Jansson, M., Jädersten, M., Grandien, A., Douagi, I., Neuberg, D. S., et al. (2017) · Haematologica

Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processes

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Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes

Follo, M. Y., Pellagatti, A., Armstrong, R. N., Ratti, S., Mongiorgi, S., De Fanti, S., Bochicchio, M. T., Russo, D., Gobbi, M., Miglino, M., et al. (2019) · Leukemia

Acute Myeloid Leukemia ResearchRetinoids in leukemia and cellular processes

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De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways

Magistroni, V., Mauri, M., D’Aliberti, D., Mezzatesta, C., Crespiatico, I., Nava, M., Fontana, D., Sharma, N., Parker, W., Schreiber, A., et al. (2019) · Haematologica

Chronic Myeloid Leukemia TreatmentsAcute Myeloid Leukemia Research

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