Monosomy 7 and interstitial deletion of 7q (− 7/7q−) are well-recognized nonrandom
chromosomal abnormalities frequently found among patients with myelodysplastic …

It is well established that somatic genomic changes can influence phenotypes in cancer, but
the role of adaptive changes in developmental disorders is less well understood. Here we …

Pediatric myelodysplastic syndromes (MDS) are a heterogeneous disease group associated
with impaired hematopoiesis, bone marrow hypocellularity, and frequently have deletions …

Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been
identified. We studied 2 families with cytopenia, predisposition to MDS with chromosome 7 …

Abstract Germline SAMD9 and SAMD9L mutations cause a spectrum of multisystem
disorders that carry a markedly increased risk of developing myeloid malignancies with …

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in
hematopoiesis and are primarily associated with early-onset disease. Here we describe a …

Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome
7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome …

Myelodysplastic syndromes (MDS) are poorly understood and rare hematologic
malignancies in children. In recent years, several germline mutations have been implicated …

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 …

Familial bone marrow failure (BMF) syndromes present typically in children and younger
adults. 1-3 A number of germline (GL) mutations in genes such as DDX41, 4 RUNX1, 5 …