Associated Papers
Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.
Abel HJ et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.
Marín-Quílez A et al.
British Journal of Haematology, 2025
Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.
Nann D et al.
The Journal of Pathology. Clinical Research, 2025
Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.
Jeong Y
Leukemia & Lymphoma, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.
Kim H et al.
Cancers, 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
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
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
Interface-guided phenotyping of coding variants in the transcription factor RUNX1.
Ozturk K et al.
Cell Reports, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).
Mill CP et al.
Blood Cancer Journal, 2024
Germline CSF3R, RUNX1 and ETV6 Pathogenic Variants in a Case of Atypical Chronic Myeloid Leukemia: Individual to Familial Unravelling by Next Generation Sequencing.
Gupta A et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.
Spencer Chapman M et al.
Nature Medicine, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
ABO Blood Group Antigen Changes in Acute Myeloid Leukemia and No Significant Association With RUNX1 and GATA2 Somatic Variants.
Jeong IH et al.
Annals of Laboratory Medicine, 2023
Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.
Ozturk K et al.
Biorxiv : the Preprint Server for Biology, 2023
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C et al.
Ejhaem, 2023
Acute myeloid leukemia with myelodysplasia-related changes and blasts of the mixed T/myeloid phenotype: a case report.
Sheng XF et al.
The Journal of International Medical Research, 2022
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
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
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Decker M et al.
Blood Advances, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement.
Di Giacomo D et al.
Annals of Hematology, 2022
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A et al.
Haematologica, 2022
In-silico probing of AML related RUNX1 cancer-associated missense mutations: Predicted relationships to DNA binding and drug interactions.
Ullah H et al.
Frontiers in Molecular Biosciences, 2022
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.
Decker M et al.
Leukemia, 2021
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.
Li Y et al.
The Journal of Clinical Investigation, 2021
Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.
Papuc SM et al.
Genes, 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
Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.
Wang F et al.
Nature Communications, 2021
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 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
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Single-cell mutation analysis of clonal evolution in myeloid malignancies.
Miles LA et al.
Nature, 2020
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.
DiFilippo EC et al.
Leukemia, 2020
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.
Simon L et al.
Blood, 2020
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu D et al.
Haematologica, 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL et al.
Blood Advances, 2020
Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.
Aguilera-Diaz A et al.
Plos One, 2020