Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

An early haematopoietic defect in mice lacking the transcription factor GATA-2

Fong‐Ying Tsai, Gordon Keller, Frank C. Kuo et al. · Nature · 1994 · 1.4K citations

Knockout Mouse, Transcriptional Regulation, Developmental Biology +9

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

Woo‐Joo Song, Melanie G. Sullivan, Robert D. Legare et al. · Nature Genetics · 1999 · 1.1K citations

Hematological Malignancy, Thrombosis, Acute Myelogenous Leukaemia +11

Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-α (C/EBPα), in acute myeloid leukemia

Thomas Pabst, Beatrice U. Mueller, Pu Zhang et al. · Nature Genetics · 2001 · 903 citations

Hematological Malignancy, Tumor Biology, Transcriptional Regulation +10

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Amy P. Hsu, Elizabeth P. Sampaio, Javed Khan et al. · Blood · 2011 · 629 citations

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

Rachel Dickinson, Helen Griffin, Venetia Bigley et al. · Blood · 2011 · 424 citations · Full text