ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
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- Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.Annals of hematology · 2025Article
- Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review.Journal of clinical immunology · 2025Review
- Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.Frontiers in genetics · 2025Article
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- Recent advances in the diagnosis and treatment of pediatric acquired aplastic anemia.International journal of hematology · 2024Review
- When to consider inherited marrow failure syndromes in adults.Hematology. American Society of Hematology. Education Program · 2023Article
- Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.Haematologica · 2023Article
- Haploinsufficiency of the essential geneeLife · 2023Article
- Comprehensive genetic analyses of childhood acute leukemia in Iraq using next-generation sequencing.Translational pediatrics · 2023Article
- TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.Journal of clinical immunology · 2022Article
- Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.International journal of hematology · 2022Review
- Hematologic complications with age in Shwachman-Diamond syndrome.Blood advances · 2022Article
- Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.Frontiers in immunology · 2022Article
- Simple and robust methylation test for risk stratification of patients with juvenile myelomonocytic leukemia.Blood advances · 2021Article
- Article
- Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes.Haematologica · 2021Article
- CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Nucleic acids research · 2021Article
- Approach to the diagnosis of aplastic anemia.Blood advances · 2021Review
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Authors and funding
31 authors.
Funding
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Abstract
purposePrecise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making.
methodsWe analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES).
resultsWe achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES. In the majority of cases (targeted sequencing: 45/53, 85%; WES: 63/68, 93%), the detected variants were concordant with, and therefore supported, the clinical diagnoses. However, in the remaining 13 cases (8 patients by target sequencing and 5 patients by WES), the clinical diagnoses were incompatible with the detected variants.
conclusionOur approach utilizing targeted sequencing and WES achieved satisfactory diagnostic rates and supported the efficacy of massive parallel sequencing as a diagnostic tool for IBMFS.Genet Med advance online publication 19 January 2017.
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