Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH-Reference-Cited by-同舟云学术

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

Published:2019-06-09 Issue:8 Volume:17 Page:1253-1260
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Megy Karyn¹²³,Downes Kate¹²³,Simeoni Ilenia¹²³,Bury Loredana⁴,Morales Joannella⁵,Mapeta Rutendo¹²³,Bellissimo Daniel B.⁶,Bray Paul F.⁷,Goodeve Anne C.⁸,Gresele Paolo⁴,Lambert Michele⁹¹⁰,Reitsma Pieter¹¹,Ouwehand Willem H.¹²³,Freson Kathleen¹²^ORCID,

Affiliation:

1. Department of Haematology University of Cambridge Cambridge UK

2. NIHR BioResource Cambridge University Hospitals Cambridge UK

3. NHS Blood and Transplant Cambridge UK

4. Department of Medicine Section of Internal and Cardiovascular Medicine University of Perugia Perugia Italy

5. European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK

6. Clinical Genomics Laboratory University of Pittsburgh Pittsburgh Pennsylvania

7. Division of Hematology, and Program in Molecular Medicine University of Utah Salt Lake City Utah

8. Haemostasis Research Group Department of Infection, Immunity and Cardiovascular Disease Faculty of Medicine Dentistry and Health Medical School University of Sheffield Sheffield UK

9. Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

10. Division of Hematology The Children's Hospital of Philadelphia Philadelphia Pennsylvania

11. Einthoven Laboratory for Experimental Vascular Medicine Leiden University Medical Center Leiden The Netherlands

12. Department of Cardiovascular Sciences Center for Molecular and Vascular Biology KU Leuven Leuven Belgium

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14479

Reference23 articles.

1. High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders

2. High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

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

4. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

5. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

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