Population based frequency of naturally occurring loss‐of‐function variants in genes associated with platelet disorders-Reference-Cited by-同舟云学术

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Population based frequency of naturally occurring loss‐of‐function variants in genes associated with platelet disorders

Published:2020-10-23 Issue:1 Volume:19 Page:248-254
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Oved Joseph H.¹²³,Lambert Michele P.¹³,Kowalska M. Anna¹,Poncz Mortimer¹³,Karczewski Konrad J.⁴⁵

Affiliation:

1. Division of Hematology Department of Pediatrics Children’s Hospital of Philadelphia Philadelphia PA USA

2. Comprehensive Bone Marrow Failure Center Children’s Hospital of Philadelphia Philadelphia PA USA

3. Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA

4. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA

5. Program in Medical and Population Genetics Broad Institute Cambridge MA USA

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.15113

Reference28 articles.

1. Update on the inherited platelet disorders

2. Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

3. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

4. αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

5. Inherited platelet disorders: toward DNA-based diagnosis

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2. Point-of-Care Testing in Patients with Hereditary Disorders of Primary Hemostasis: A Narrative Review;Seminars in Thrombosis and Hemostasis;2024-07-01

3. A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat;Journal of Veterinary Internal Medicine;2024-03

4. Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC;Research and Practice in Thrombosis and Haemostasis;2024-01

5. National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries;Expert Review of Hematology;2023-12-02

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