Associated Papers
Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.
Marín-Quílez A et al.
British Journal of Haematology, 2025
Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Ernst MPT et al.
Hemasphere, 2025
39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.xlsx › Sheet1
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts
Platelet transcriptome analysis in patients with germline RUNX1 mutations.
Palma-Barqueros V et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort.
Yamamori A et al.
American Journal of Hematology, 2023
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS
B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.
Six KA et al.
Blood Advances, 2021
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
Lamolda M et al.
Stem Cell Research, 2019
Gene of the issue: RUNX1 mutations and inherited bleeding.
Morgan NV et al.
Platelets, 2017
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