Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Over the last decade, the field of hereditary haematological malignancy syndromes
(HHMSs) has gained increasing recognition among clinicians and scientists worldwide …

The recent application of whole exome or whole genome sequencing unveiled a plethora of
germline variants predisposing to myeloid disorders, particularly myelodysplastic …

Abstract GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease
predisposing to a range of symptoms, of which myeloid malignancy and immunodeficiency …

Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological
and clinical phenotypes. The genetic, immunological, and clinical features of GATA2 …

Pediatric myelodysplastic syndromes (MDS) often raise concern for an underlying germline
predisposition to hematologic malignancies, referred to as germline predisposition herein …

The importance of predisposition to leukaemia in clinical practice is being increasingly
recognized. This is emphasized by the establishment of a novel WHO disease category in …

Reversion mosaicism has been reported in an increasing number of genetic disorders
including primary immunodeficiency diseases. Several mechanisms can mediate somatic …

Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in
inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene …

Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …