Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder
characterized by diverse congenital malformations, progressive pancytopenia, and …

Somatic mosaicism—the presence of genetically distinct populations of somatic cells in a
given organism—is frequently masked, but it can also result in major phenotypic changes …

To understand the mechanisms that mediate germline genetic leukemia predisposition, we
studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone …

The generation of induced pluripotent stem (iPS) cells has enabled the derivation of patient-
specific pluripotent cells and provided valuable experimental platforms to model human …

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of
hematological abnormalities and congenital anomalies. Based on multilateral efforts from …

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

The past few years have witnessed a considerable expansion in our understanding of the
pathways that maintain chromosome stability in dividing cells through the identification of …

Fanconi anaemia (FA) is an autosomal recessive disease characterised by congenital
abnormalities, defective haemopoiesis, and a high risk of developing acute myeloid …

Somatic mutations occur spontaneously in normal individuals and accumulate throughout
life. These genetic modifications contribute to progressive ageing phenotypes and are …

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