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Is genetic testing for heritable thrombocytopenia coming of age?

作者信息

Gomez Keith

机构信息

Katherine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom.

出版信息

Res Pract Thromb Haemost. 2025 Jul 22;9(5):102975. doi: 10.1016/j.rpth.2025.102975. eCollection 2025 Jul.

DOI:10.1016/j.rpth.2025.102975
PMID:40821743
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12356470/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1ae/12356470/007fc680be0e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1ae/12356470/9349b9d3f9f8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1ae/12356470/007fc680be0e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1ae/12356470/9349b9d3f9f8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1ae/12356470/007fc680be0e/gr2.jpg

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[1]
Is genetic testing for heritable thrombocytopenia coming of age?

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[2]
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[6]
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[7]
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[9]
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[10]
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本文引用的文献

[1]
The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience.

Res Pract Thromb Haemost. 2025-4-24

[2]
Clinical and laboratory diagnosis of heritable platelet disorders in adults and children: a British Society for Haematology Guideline.

Br J Haematol. 2021-10

[3]
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

J Thromb Haemost. 2021-10

[4]
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Blood Adv. 2021-1-26

[5]
Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders.

J Thromb Haemost. 2020-8

[6]
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.

J Thromb Haemost. 2019-8

[7]
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Blood. 2019-12-5

[8]
ClinGen--the Clinical Genome Resource.

N Engl J Med. 2015-6-4

[9]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015-5

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