Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
GATA2 mitotic bookmarking is required for definitive haematopoiesis.
Silvério-Alves R et al.
Nature Communications, 2023
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L et al.
British Journal of Haematology, 2022
GATA2 haploinsufficient patients lack innate lymphoid cells that arise after hematopoietic cell transplantation.
van Lier YF et al.
Frontiers in Immunology, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 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
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C et al.
Journal of Clinical Immunology, 2021
Germline mutations and blood malignancy (Review).
Gong Y et al.
Oncology Reports, 2021
Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?
Bresnick EH et al.
Blood Advances, 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
GATA2 mutations in myeloid malignancies: Two zinc fingers in many pies.
Leubolt G et al.
Iubmb Life, 2020
Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.
Chong CE et al.
Leukemia, 2018
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S et al.
International Journal of Hematology, 2017
GATA2 deficiency and related myeloid neoplasms.
Wlodarski MW et al.
Seminars in Hematology, 2017
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW et al.
Blood, 2016
GATA2 is required for lymphatic vessel valve development and maintenance.
Kazenwadel J et al.
The Journal of Clinical Investigation, 2015
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
Pasquet M et al.
Blood, 2013
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
Holme H et al.
British Journal of Haematology, 2012
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Kazenwadel J et al.
Blood, 2012
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P et al.
Nature Genetics, 2011