Associated Papers
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Pantea CL et al.
International Journal of Molecular Sciences, 2026
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
BAFF-associated granulomatous lung disease in a patient with GATA2 deficiency.
Yasutomi-Sakai M et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago M et al.
Cancers, 2023
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.
Shamriz O et al.
Frontiers in Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.
Ferraro F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Nakazawa H et al.
International Journal of Hematology, 2021
Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?
Bresnick EH et al.
Blood Advances, 2020
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Wu Z et al.
Blood Advances, 2020
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.
Petti AA et al.
Nature Communications, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Trilineage Dysplasia in an Adolescent With Germline GATA2 Mutation.
Gardner JA et al.
Journal of Pediatric Hematology/oncology, 2019
Unexplained cytopenias in an adolescent? You GATA think about it.
Rueckert J et al.
Journal of the Association of Genetic Technologists, 2018
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S et al.
International Journal of Hematology, 2017
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.
Webb G et al.
Journal of Hepatology, 2016
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW et al.
Blood, 2016
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
Svobodova T et al.
Bmc Pulmonary Medicine, 2015
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY et al.
Haematologica, 2015
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Spinner MA et al.
Blood, 2014
The evolution of cellular deficiency in GATA2 mutation.
Dickinson RE et al.
Blood, 2014
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
West RR et al.
Haematologica, 2014
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
Hsu AP et al.
Blood, 2013