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1
Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia.
Leukemia. 2021 Aug;35(8):2403-2406. doi: 10.1038/s41375-021-01128-1. Epub 2021 Jan 22.
2
Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia.
Blood. 2011 Aug 25;118(8):2222-38. doi: 10.1182/blood-2011-03-342774. Epub 2011 Jun 29.
4
Clinical and biological aspects of myeloid leukemia in Down syndrome.
Leukemia. 2021 Dec;35(12):3352-3360. doi: 10.1038/s41375-021-01414-y. Epub 2021 Sep 13.
5
[Abnormal hematopoiesis in Down syndrome].
Rinsho Ketsueki. 2014 Oct;55(10):1738-47.
6
Post-induction MRD by FCM and GATA1-PCR are significant prognostic factors for myeloid leukemia of Down syndrome.
Leukemia. 2021 Sep;35(9):2508-2516. doi: 10.1038/s41375-021-01157-w. Epub 2021 Feb 15.
9
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.
Cancer Cell. 2019 Aug 12;36(2):123-138.e10. doi: 10.1016/j.ccell.2019.06.007. Epub 2019 Jul 11.

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Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome.
Blood Adv. 2025 Aug 26;9(16):4235-4243. doi: 10.1182/bloodadvances.2025016282.
2
Down syndrome-associated leukaemias: current evidence and challenges.
Ther Adv Hematol. 2024 Jul 23;15:20406207241257901. doi: 10.1177/20406207241257901. eCollection 2024.
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Weighted gene co-expression network analysis identifies key hub genes and pathways in acute myeloid leukemia.
Front Genet. 2023 Feb 27;14:1009462. doi: 10.3389/fgene.2023.1009462. eCollection 2023.
6
Clinical practice - latest insights in optimizing the care of children with Down syndrome.
Eur J Pediatr. 2023 May;182(5):2027-2039. doi: 10.1007/s00431-023-04890-9. Epub 2023 Mar 10.
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Leukemogenesis in infants and young children with trisomy 21.
Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):1-8. doi: 10.1182/hematology.2022000395.

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