Associated Papers
Clonal megakaryocyte dysplasia with normal blood values: a covert, thrombosis-prone, early myeloproliferative neoplasm.
Barosi G et al.
Haematologica, 2025
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
Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.
Marin-Quilez A et al.
Biomolecules, 2025
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.
Rondoni M et al.
Cancers, 2025
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
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.
Winter PS et al.
Biorxiv : the Preprint Server for Biology, 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
Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.
Verma T et al.
Cancers, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
El Khoury LY et al.
Clinical Epigenetics, 2023
Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing.
Ambayya A et al.
Cancers, 2023
The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.
Sobieralski P et al.
Frontiers in Oncology, 2023
ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.
Schönfeld L et al.
Leukemia, 2022
The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.
Zagaria A et al.
Experimental Hematology & Oncology, 2022
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Decker M et al.
Blood Advances, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 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
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies.
Decker M et al.
Leukemia, 2021
Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.
Marín-Quílez A et al.
Thrombosis and Haemostasis, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Absence of FGFR3-TACC3 rearrangement in hematological malignancies with numerical chromosomal alteration.
Banella C et al.
Hematology/oncology and Stem Cell Therapy, 2021
An analysis of the RUNX1p.(Leu56Ser) variant in a cohort of individuals with myeloid neoplasms; suggests it is a benign germline variant.
Palmer D et al.
Leukemia & Lymphoma, 2021
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.
Feusier JE et al.
Blood Cancer Discovery, 2021
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.
Docking TR et al.
Nature Communications, 2021
Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele.
Anelli L et al.
Leukemia, 2021
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Arindrarto W et al.
Leukemia, 2021
Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia.
Abdelmoumen K et al.
Acta Haematologica, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.
Cattaneo D et al.
Frontiers in Oncology, 2021
Accurate germline RUNX1 variant interpretation and its clinical significance.
Feurstein S et al.
Blood Advances, 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
Controversies about germline RUNX1 missense variants.
Duployez N et al.
Leukemia & Lymphoma, 2020
Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder.
Prieto-Conde MI et al.
Leukemia & Lymphoma, 2020
Reply to Brown et al: 'Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis'.
Prieto-Conde MI et al.
Leukemia & Lymphoma, 2020
Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis.
Brown AL et al.
Leukemia & Lymphoma, 2020
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X et al.
Blood Advances, 2019
Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis.
Yoshimi A et al.
Nature, 2019
TP53, ETV6 and RUNX1 germline variants in a case series of patients developing secondary neoplasms after treatment for childhood acute lymphoblastic leukemia.
Junk SV et al.
Haematologica, 2019
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.
Salehzadeh S et al.
Cancer Cell International, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018