A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias-Reference-Cited by-同舟云学术

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

Published:2016-07-19 Issue:2 Volume:175 Page:318-330
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Roy Noémi B. A.¹²,Wilson Edward A.¹,Henderson Shirley¹,Wray Katherine²,Babbs Christian²,Okoli Steven²,Atoyebi Wale³,Mixon Avery⁴,Cahill Mary R.⁵,Carey Peter⁶,Cullis Jonathan⁷,Curtin Julie⁸,Dreau Helene¹,Ferguson David J. P.⁹,Gibson Brenda¹⁰,Hall Georgina¹¹,Mason Joanne¹,Morgan Mary¹²,Proven Melanie¹,Qureshi Amrana¹¹,Sanchez Garcia Joaquin¹³,Sirachainan Nongnuch¹⁴,Teo Juliana⁸,Tedgård Ulf¹⁵,Higgs Doug²,Roberts David¹⁶,Roberts Irene²,Schuh Anna¹

Affiliation:

1. BRC Blood Theme and BRC/NHS Translational Molecular Diagnostics Centre John Radcliffe Hospital Oxford UK

2. Molecular Haematology Unit Weatherall Institute of Molecular Medicine John Radcliffe Hospital Oxford UK

3. Department of Haematology Oxford University Hospitals NHS Foundation Trust Churchill Hospital Oxford UK

4. Division of Pediatric Hematology/Oncology Children's Hospital at Erlanger Chattanooga TN USA

5. Department of Haematology Cork University Hospital Cork Ireland

6. Department of Haematology The Royal Victoria Infirmary Newcastle‐upon‐Tyne UK

7. Department of Haematology Salisbury NHS Foundation Trust Salisbury UK

8. Department of Haematology Sydney Children's Hospitals Network Westmead Australia

9. Nuffield Department of Clinical Laboratory Sciences John Radcliffe Hospital University of Oxford Oxford UK

10. Department of Paediatric Haematology/Oncology Royal Hospital for Children Glasgow UK

11. Paediatric Haematology/Oncology Unit Oxford University Hospitals NHS Foundation Trust John Radcliffe Hospital Oxford UK

12. Department of Paediatric Haematology‐Oncology University Hospital Southampton Southampton UK

13. Laboratorio Diagnóstico UGC de Hematología Hospital Universitario Reina Sofía Córdoba Spain

14. Division of Haemato‐Oncology Department of Paediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand

15. Department of Paediatrics Skåne University Hospital Lund Sweden

16. NHS Blood and Transplant NHSBT – John Radcliffe Hospital, Level 2 Oxford UK

Funder

University Of Oxford

National Institute for Health Research

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.14221

Reference30 articles.

1. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

2. Hematologically Important Mutations: Red Cell Pyruvate Kinase (2ndupdate)

3. Mutations in SBDS are associated with Shwachman–Diamond syndrome

4. Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants

5. Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

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