Associated Papers
CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.
Romero-Moya D et al.
Leukemia, 2025
GATA2 mutation is associated with immune dysfunction and increased Mycobacterium haemophilum susceptibility in immunocompromised individuals.
Gupta A et al.
Jci Insight, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Germline copy number variants in RUNX1: An updated case report and a decade-old red herring.
Deuitch NT et al.
Bjc Reports, 2025
Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms.
Kongkiatkamon S et al.
Journal of Clinical Pathology, 2025
Modeling GATA2 deficiency in mice: the R396Q mutation disrupts normal hematopoiesis.
Hall T et al.
Leukemia, 2025
GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.
Largeaud L et al.
Blood Cancer Journal, 2025
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 2024
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.
Carretta C et al.
Leukemia, 2024
Myeloid/lymphoid neoplasm with a novel cryptic RBPMS::FGFR1 rearrangement presenting as de novo acute leukemias.
Yang T et al.
Leukemia & Lymphoma, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
West RR et al.
Blood Advances, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 2023
Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency.
Rein A et al.
Haematologica, 2023
COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.
Sollier E et al.
Nature Communications, 2023
GATA2 mitotic bookmarking is required for definitive haematopoiesis.
Silvério-Alves R et al.
Nature Communications, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago M et al.
Cancers, 2023
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L et al.
British Journal of Haematology, 2022
Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.
Sperling AS et al.
Blood, 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
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.
Maurya N et al.
Scientific Reports, 2022
Specific effects of somatic GATA2 zinc finger mutations on erythroid differentiation.
Redondo Monte E et al.
Experimental Hematology, 2022
Reduction of blood group A antigen on erythrocytes in a patient with myelodysplastic syndrome harboring somatic mutations in RUNX1 and GATA2.
Hayakawa A et al.
Transfusion, 2022
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ et al.
Blood, 2021
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
Gata2-L359V impairs primitive and definitive hematopoiesis and blocks cell differentiation in murine chronic myelogenous leukemia model.
Fu YK et al.
Cell Death & Disease, 2021
A patient with a germline GATA2 mutation and primary myelofibrosis.
Rütsche CV et al.
Blood Advances, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes.
Bruzzese A et al.
Cancers, 2020
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ et al.
Leukemia, 2020
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Best Practice & Research. Clinical Haematology, 2020
Clonal hematopoietic mutations linked to platelet traits and the risk of thrombosis or bleeding.
Veninga A et al.
Haematologica, 2020
Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations.
Kasai F et al.
Human Cell, 2020