Associated Papers
The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.
Yu H et al.
Leukemia, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
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
Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia.
Kamizela AE et al.
Nature, 2025
Mutation of Epigenetic Regulators at Diagnosis Is an Independent Predictor of Tyrosine Kinase Inhibitor Treatment Failure in Chronic Myeloid Leukemia: A Report From the RESIDIAG Study.
Guerineau H et al.
American Journal of Hematology, 2025
39654506 (PubMed )
Supplement: supplement_1.pdf
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1
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
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.
Halper-Stromberg E et al.
Experimental Hematology & Oncology, 2024
39090734 (PubMed )
Supplement: 40164_2024_541_MOESM1_ESM.pdf
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2
Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).
Mill CP et al.
Blood Cancer Journal, 2024
38316746 (PubMed )
Supplement: 41408_2024_981_MOESM2_ESM.pdf
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 › Cytogenetics
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
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
Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.
Sahajpal NS et al.
Cancers, 2023
37370824 (PubMed )
Supplement: cancers-15-03214-s001.zip › cancers-2363777-supplementary.xlsx › File_S2
Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations.
Zuo Z et al.
Leukemia Research Reports, 2023
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf
ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.
Schönfeld L et al.
Leukemia, 2022
35902731 (PubMed )
Supplement: 41375_2022_1648_MOESM1_ESM.xlsx › Genomic_data
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf
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
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1
Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement.
Di Giacomo D et al.
Annals of Hematology, 2022
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
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
Searching for germline mutations in the RUNX1 gene among Polish patients with acute myeloid leukemia.
Bąk A et al.
Leukemia & Lymphoma, 2021
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.
Li Y et al.
The Journal of Clinical Investigation, 2021
Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study.
Orsmark-Pietras C et al.
Genes, Chromosomes & Cancer, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab2
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.
Simon L et al.
Blood, 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
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