A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia-Reference-Cited by-同舟云学术

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

Published:2018-10 Issue:4 Volume:2 Page:640-652
ISSN:2475-0379
Container-title:Research and Practice in Thrombosis and Haemostasis
language:en
Short-container-title:Res Pract Thromb Haemost

Author:

Johnson Ben¹,Doak Rachel²,Allsup David³,Astwood Emma⁴,Evans Gillian⁵,Grimley Charlotte⁴,James Beki⁶,Myers Bethan⁷,Stokley Simone⁴,Thachil Jecko⁸,Wilde Jonathan⁹,Williams Mike¹⁰,Makris Mike¹¹,Lowe Gillian C.⁹,Wallis Yvonne²,Daly Martina E.¹¹,Morgan Neil V.¹^ORCID,

Affiliation:

1. Institute of Cardiovascular Sciences; College of Medical and Dental Sciences; University of Birmingham; Birmingham UK

2. West Midlands Regional Genetics Laboratory; Birmingham Women's Hospital; Birmingham UK

3. Hull York Medical School; University of Hull; Hull UK

4. Nottingham Haemophilia Centre; Nottingham University Hospital; Nottingham UK

5. Kent Haemophilia Centre; Kent & Canterbury Hospital; Canterbury UK

6. Regional Centre for Paediatric Haematology; Leeds Children's Hospital; Leeds UK

7. Department of Haematology; Lincoln County Hospital; Lincoln UK

8. Department of Haematology; Manchester Royal Infirmary; Manchester UK

9. Comprehensive Care Haemophilia Centre; University Hospitals NHS Foundation Trust; Birmingham UK

10. Department of Haematology; Birmingham Children's Hospital; Birmingham UK

11. Department of Infection, Immunity and Cardiovascular Science; University of Sheffield Medical School; University of Sheffield; Sheffield UK

Funder

British Heart Foundation

Medical Research Council

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/rth2.12151/fullpdf

Reference25 articles.

1. Inherited thrombocytopenias-recent advances in clinical and molecular aspects;Balduini;Platelets,2017

2. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?;Daly;Br J Haematol,2014

3. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease;Pecci;Hum Mutat,2008

4. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders;Bastida;Haematologica,2018

5. Hereditary thrombocytopenias: a growing list of disorders;Noris;Hematology Am Soc Hematol Educ Program,2017

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