ArticleAmerican journal of hematology2018
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Article in American journal of hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing.Frontiers in pediatrics · 2026Article
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.Diagnostics (Basel, Switzerland) · 2025Article
- Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.Haematologica · 2023Article
- Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.International journal of molecular sciences · 2021Review
- Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders.Hematology. American Society of Hematology. Education Program · 2020Review
- Article
- Diagnosis of Inherited Platelet Disorders on a Blood Smear.Journal of clinical medicine · 2020Article
- The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.American journal of hematology · 2020Review
- Hereditary platelet function disorder fromHaematologica · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Horizon Scan Of Clinical Laboratories Offering Pharmacogenetic Testing.Health affairs (Project Hope) · 2018Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
Inherited platelet disorders (IPD) are a heterogeneous group of rare disorders that affect platelet number and function and often predispose to other significant medical complications. In spite of the identification of over 50 IPD disease-associated genes, a molecular diagnosis is only identified in a minority (10%) of affected patients without a clinically suspected etiology. We studied a cohort of 21 pediatric patients with suspected IPDs by exome sequencing (ES) to: (1) examine the performance of the exome test for IPD genes, (2) determine if this exome-wide diagnostic test provided a higher diagnostic yield than has been previously reported, (3) to evaluate the frequency of variants of uncertain significance identified, and (4) to identify candidate variants for functional evaluation in patients with an uncertain or negative diagnosis. We established a high priority gene list of 53 genes, evaluated exome capture kit performance, and determined the coverage for these genes and disease-related variants. We identified likely disease causing variants in 5 of the 21 probands (23.8%) and variants of uncertain significance in 52% of patients studied. In conclusion, ES has the potential to molecularly diagnose causes of IPD, and to identify candidate genes for functional evaluation. Robust exome sequencing also requires that coverage of genes known to be associated with clinical findings of interest need to be carefully examined and supplemented if necessary. Clinicians who undertake ES should understand the limitations of the test and the full significance of results that may be returned.
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