Associated Papers
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease.
Sugiura Y et al.
Respirology Case Reports, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S et al.
Journal of Clinical Immunology, 2023
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Single Center Experience With Pediatric Patients With GATA2 Deficiency.
Ovsyannikova G et al.
Frontiers in Pediatrics, 2022
Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project
Sargas C et al.
Haematologica, 2021
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
Combined Mutation of the GATA2 Gene and STAT5B Gene in a Patient with Hypogammaglobulinemia and Autoimmunity.
Liu Z et al.
The Tohoku Journal of Experimental Medicine, 2021
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.
Blanco ML et al.
Clinical Case Reports, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl].
Chen LL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Folliculotropic mycosis fungoides associated with GATA2 deficiency: a new skin manifestation.
Fertitta L et al.
The British Journal of Dermatology, 2018
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
Donadieu J et al.
Haematologica, 2018
Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.
Parta M et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2018
Skin manifestations among GATA2-deficient patients.
Polat A et al.
The British Journal of Dermatology, 2018
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S et al.
International Journal of Hematology, 2017
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2017
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW et al.
Blood, 2016
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
Saida S et al.
Pediatric Transplantation, 2016
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY et al.
Haematologica, 2015
GATA2 Deficiency in a Pediatric Patient.
Mojica AM et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0