Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …

Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and
chromosome fragility. We review the recent discovery of FA genes and efforts to develop …

Fanconi anemia (FA) is a severe hereditary disorder with defective DNA damage response
and repair. It is characterized by phenotypes including progressive bone marrow failure …

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

Fanconi anaemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS) and
Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders …

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and
increased risk for malignancy. Physical abnormalities, present in approximately 75% of …

Genotype–phenotype databases provide information about genetic variation, its
consequences and its mechanisms of action for research and health care purposes. Existing …

Accurate and timely diagnosis of inherited bone marrow failure and inherited
myelodysplastic syndromes is essential to guide clinical management. Distinguishing …

Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic
basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of …