Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

11 Mar 2019

Abstract excerpt

The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context of a patient's phenotype. Before detailed testing is initiated, the treating physician and patient should establish an understanding of why testing is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hemoglobinopathies and Related Disorders
Share to Immunodeficiency and Autoimmune Disorders
Share to Platelet Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30858232
DOI: 10.1182/blood-2019-01-852350

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easierPMID 30858232Read ↗

Platelet genetic testing by next-generation sequencing: A practical update.Semantic proximity Read ↗

Inherited platelet disorders: toward DNA-based diagnosisSemantic proximity Read ↗

Inherited Platelet Disorders: Diagnosis and Management.Semantic proximity Read ↗

Learning the Ropes of Platelet Count Regulation: Inherited ThrombocytopeniasSemantic proximity Read ↗

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders.Semantic proximity Read ↗

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.Semantic proximity Read ↗

Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?Semantic proximity Read ↗

Genomics of platelet disorders.Semantic proximity Read ↗

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and managementSemantic proximity Read ↗

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation.Semantic proximity Read ↗

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With BleedingSemantic proximity Read ↗

Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.