ReviewSeminars in hematology2013
Genomic characterization of the inherited bone marrow failure syndromes.
Review in Seminars in hematology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 74 citations in OpenAlex.
- Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.Blood · 2015Trial
- Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.Annals of hematology · 2025Article
- [Mitoxantrone hydrochloride liposome combined with cytarabine for treating pediatric acute myeloid leukemia with RUNX1∷MTG16 fusion gene: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation.Annals of medicine and surgery (2012) · 2024Article
- p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.International journal of molecular sciences · 2023Review
- Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.Frontiers in pediatrics · 2023Article
- Genetics and genomics of bone marrow failure syndrome.Blood research · 2022Review
- Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.Genes · 2022Review
- The telomere-binding protein Rif2 and ATP-bound Rad50 have opposing roles in the activation of yeast Tel1The Journal of biological chemistry · 2019Article
- Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.Molecular diagnosis & therapy · 2019Review
- Retinopathy and bone marrow failure revealing Coats plus syndrome.BMJ case reports · 2018Article
- The histopathology of bone marrow failure in children.Journal of clinical and experimental hematopathology : JCEH · 2018Review
- Increased Reactive Oxygen Species and Cell Cycle Defects Contribute to Anemia in the RASA3 Mutant Mouse Model sFrontiers in physiology · 2018Article
- Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.The Journal of clinical investigation · 2017Article
- Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.Blood cells, molecules & diseases · 2017Article
- Impairment of fetal hematopoietic stem cell function in the absence of Fancd2.Experimental hematology · 2017Article
- Application of Induced Pluripotent Stem Cell Technology to the Study of Hematological Diseases.Cells · 2017Review
- [The progress of molecular genetics in bone marrow failure].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
- Chronic eosinophilic leukemia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: a novel variant of myeloid proliferative neoplasm with eosinophilia.Human pathology (New York) · 2016Article
- p53 downregulates the Fanconi anaemia DNA repair pathway.Nature communications · 2016Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The inherited bone marrow failure syndromes (IBMFS) are a set of clinically related yet heterogeneous disorders in which at least one hematopoietic cell lineage is significantly reduced. Many of the IBMFS have notably increased cancer risks, as well as other physical findings. Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis, are causative of Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond-Blackfan anemia (DBA), respectively. Next-generation sequencing (NGS) generally refers to high-throughput, large-scale sequencing technologies and is being used more frequently to understand disease etiology. In the IBMFS, NGS has facilitated the discovery of germline mutations that cause thrombocytopenia absent radii syndrome (TAR), a subset of DC and DBA, and other uncharacterized, but related, disorders. Panels of large numbers of genes are being used to molecularly characterize patients with IBMFS, such as FA and DBA. NGS is also accelerating the discovery of the genetic etiology of previously unclassified IBMFS. In this review, we will highlight recent studies that have employed NGS to ascertain the genetic etiology of IBMFS, namely, FA, DC, DBA, and TAR, and discuss the translational utility of these findings.
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