Associated Papers
FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.
Niederkorn M et al.
The Journal of Clinical Investigation, 2026
41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples
Telomere attrition is common in patients with germline RUNX1 pathogenic variants.
Lawal RA et al.
Haematologica, 2026
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS
The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.
Yu H et al.
Leukemia, 2025
Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.
Yang X et al.
Human Genomics, 2025
40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4
Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.
Zeng AGX et al.
Blood Cancer Discovery, 2025
40294241 (PubMed )
Supplement: bcd-24-0342_supplementary_tables_s1-s21_suppst1.xlsx › S18_-_Tapestri_CO131_Panel
Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.
Krizkova J et al.
Leukemia, 2025
40295826 (PubMed )
Supplement: 41375_2025_2609_MOESM1_ESM.pdf
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5
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
Case Report: A rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in acute myeloid leukemia with plasmacytoid dendritic cell expansion.
Gong J et al.
Frontiers in Oncology, 2025
41103945 (PubMed )
Supplement: Table1.xlsx › Table_S1
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Blood Advances, 2024
38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M et al.
Nature Genetics, 2024
38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Exome_Seq
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
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations
Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Eriksson A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3
RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.
Zezulin AU et al.
Genes & Development, 2023
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L et al.
Haematologica, 2023
36727400 (PubMed )
Supplement: 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx › Details
Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.
Wang Y et al.
Clinical and Translational Medicine, 2023
37345307 (PubMed )
Supplement: CTM2-13-e1309-s003.xlsx › Table_1
Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort.
Yamamori A et al.
American Journal of Hematology, 2023
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C et al.
Ejhaem, 2023
RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.
Zezulin AU et al.
Biorxiv : the Preprint Server for Biology, 2023
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf
Distinct gene expression pattern of RUNX1 mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia.
Li J et al.
Frontiers of Medicine, 2022
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
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Decker M et al.
Blood Advances, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.
Maurya N et al.
Scientific Reports, 2022
35396491 (PubMed )
Supplement: 41598_2022_9864_MOESM9_ESM.xlsx › Sheet1
Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.
Tawana K et al.
British Journal of Haematology, 2022
Validation and refinement of a RUNX1 mutation-associated gene expression signature in blast crisis chronic myeloid leukemia.
Lee KL et al.
Leukemia, 2022
35121847 (PubMed )
Supplement: 41375_2022_1508_MOESM1_ESM.xlsx › Supplementary_Table_5
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Homan CC et al.
Haematologica, 2021
34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.
Decker M et al.
Leukemia, 2021
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S1
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.
Six KA et al.
Blood Advances, 2021
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.
Fenwarth L et al.
Haematologica, 2021
Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.
Bagla S et al.
Pediatric Hematology and Oncology, 2021
Clonal hematopoiesis in adult pure red cell aplasia.
Fujishima N et al.
Scientific Reports, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
33909614 (PubMed )
Supplement: pone.0243683.s002.xlsx › S2
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