ReviewHematology. American Society of Hematology. Education Program2017
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.
Review in Hematology. American Society of Hematology. Education Program, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Article
- Development and Validation of the PASS Score: A Simplified Tool to Diagnose Acquired Aplastic Anemia in Adults.Research square · 2026Article
- Diagnosis and Management of Immune Thrombocytopenia in Paediatrics: A Comprehensive Review.Cureus · 2024Review
- Review
- Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.Blood · 2022Article
- Approach to the diagnosis of aplastic anemia.Blood advances · 2021Review
- Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.Best practice & research. Clinical haematology · 2021Review
- Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.American journal of human genetics · 2020Article
- Application of the Moran Model in Estimating Selection Coefficient of Mutated CSF3R Clones in the Evolution of Severe Congenital Neutropenia to Myeloid Neoplasia.Frontiers in physiology · 2020Article
- Genetic predisposition to MDS: diagnosis and management.Hematology. American Society of Hematology. Education Program · 2019Article
- Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.Mayo Clinic proceedings · 2019Article
- Neutropenia in the age of genetic testing: Advances and challenges.American journal of hematology · 2019Review
- Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies.Current hematologic malignancy reports · 2018Review
- Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications.Clinical case reports · 2018Article
- Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework.Frontiers in immunology · 2018Review
- Treatment of inherited bone marrow failure syndromes beyond transplantation.Hematology. American Society of Hematology. Education Program · 2017Review
- Inherited bone marrow failure syndromes: considerations pre- and posttransplant.Hematology. American Society of Hematology. Education Program · 2017Review
- Review
- Diamond-Blackfan anemia with mutation inJournal of pharmacy & bioallied sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs. This review presents a practical approach for the clinical hematologist that outlines when to suspect an IBMFS and how to use various diagnostic tools, from physical examination to screening laboratory tests and genomics, for the diagnosis of the most frequent IBMFSs: Fanconi anemia, telomere biology disorders, Diamond-Blackfan anemia, GATA2 deficiency syndrome, Shwachman-Diamond syndrome, and severe congenital neutropenia.
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.