ArticleHaematologica2016
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Article in Haematologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed, 140 citations in OpenAlex.
- Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.British journal of haematology · 2017Trial
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Annals of hematology · 2026Review
- Clinical Characteristics and Predictors of Chronicity in Children With Immune Thrombocytopenia.Cureus · 2026Article
- Clinical characteristic of isolated thrombocytopenia in patients with bone marrow failure-related germline variants: a retrospective study from a single centre.Annals of medicine · 2025Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression.The Journal of clinical investigation · 2025Article
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits.Blood vessels, thrombosis & hemostasis · 2025Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Cytosolic cytochrome c represses ferroptosis.Cell metabolism · 2025Article
- Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.Research and practice in thrombosis and haemostasis · 2025Article
- Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.Annals of hematology · 2024Article
- A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.British journal of haematology · 2024Article
- Review
- Article
- Diverse functions of cytochrome c in cell death and disease.Cell death and differentiation · 2024Review
- Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.Journal of thrombosis and haemostasis : JTH · 2024Article
- Altered conformational dynamics contribute to species-specific effects of cytochrome c mutations on caspase activation.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2024Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
35 authors at 15 institutions in 2 countries.
Funding
Abstract
Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, and more recently in the discovery of novel disease-causing genes. However its full potential has not yet been exploited. Over the past 6 years we have sequenced the exomes from 55 patients, including 37 index cases and 18 additional family members, all of whom were recruited to the UK Genotyping and Phenotyping of Platelets study. All patients had inherited or sustained thrombocytopenia of unknown etiology with platelet counts varying from 11×10
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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.