ReviewPlatelets2017
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Review in Platelets, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
16 citing papers in PubMed, 40 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Diagnostic workup of inherited platelet disorders.Blood research · 2022Review
- The RNA-binding protein SRSF3 has an essential role in megakaryocyte maturation and platelet production.Blood · 2022Article
- Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.Blood advances · 2021Article
- Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.Haemophilia : the official journal of the World Federation of Hemophilia · 2021Article
- A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.Cureus · 2020Review
- Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel NonsenseTH open : companion journal to thrombosis and haemostasis · 2020Article
- Article
- Diagnosis of Inherited Platelet Disorders on a Blood Smear.Journal of clinical medicine · 2020Article
- Identification of Three Novel Mutations in theInternational journal of preventive medicine · 2020Article
- TBXA2R gene variants associated with bleeding.Platelets · 2018Article
- The genetics of platelet count and volume in humans.Platelets · 2018Review
- Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.American journal of hematology · 2018Article
- Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.Thrombosis and haemostasis · 2017Article
- Article
- Inherited Thrombocytopenias: Combining High-Throughput Sequencing With Other Relevant Data.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Inherited platelet disorders (IPDs) are a heterogeneous group of disorders associated with normal or reduced platelet counts and bleeding diatheses of varying severities. The identification of the underlying cause of IPDs is clinically challenging due to the absence of a gold-standard platelet test, and is often based on a clinical presentation and normal values in other hematology assays. As a consequence, a DNA-based approach has a potentially important role in the investigation of these patients. Next-generation sequencing (NGS) technologies are allowing the rapid analysis of genes that have been previously implicated in IPDs or that are known to have a key role in platelet regulation, as well as novel genes that have not been previously implicated in platelet dysfunction. The potential limitations of NGS arise with the interpretation of the sheer volume of genetic information obtained from whole exome sequencing (WES) or whole genome sequencing (WGS) in order to identify function-disrupting variants. Following on from bioinformatic analysis, a number of candidate genetic variants usually remain, therefore adding to the difficulty of phenotype-genotype segregation verification. Linking genetic changes to an underlying bleeding disorder is an ongoing challenge and may not always be feasible due to the multifactorial nature of IPDs. Nevertheless, NGS will play a key role in our understanding of the mechanisms of platelet function and the genetics involved.
Indexed as
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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.