The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …

Severe congenital neutropenias are a heterogeneous group of rare haematological
diseases characterized by impaired maturation of neutrophil granulocytes. Patients with …

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 …

ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …

As individuals with germ line predisposition to hematologic malignancies are diagnosed
with increasing frequency, the need for clinical surveillance has become apparent …

The clinical and histopathological distinctions between inherited versus acquired bone
marrow failure and myelodysplastic syndromes are challenging. The identification of …

Inherited pathogenic (P)/likely pathogenic (LP) variants are recognized increasingly as
predisposing patients to myelodysplastic syndrome (MDS) and aplastic anemia (AA)[1–3] …

Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective
hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia …

The inherited bone marrow failure syndromes (IBMFS) typically present with significant
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with
leukemia predisposition. An understanding of the hematologic complications of SDS with …