RNA modifications have recently emerged as critical posttranscriptional regulators of gene
expression programmes. Significant advances have been made in understanding the …

GATA family proteins play essential roles in development of many cell types, including
hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3 …

The classification of myeloid neoplasms and acute leukemias was last updated in 2016
within a collaboration between the World Health Organization (WHO), the Society for …

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be
inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 …

Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid
disease. We investigated 426 children and adolescents with primary myelodysplastic …

We report germline missense mutations in ETV6 segregating with the dominant transmission
of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a …

Precise genome editing/correction of DNA double-strand breaks (DSBs) induced by
CRISPR-Cas9 by homology-dependent repair (HDR) is limited by the competing error-prone …

Familial clustering of myelodysplastic syndromes (MDSs) and acute myeloid leukemia
(AML) can be caused by inherited factors. We screened 59 individuals from 17 families with …

Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In
contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here …