The use of <scp>next‐generation</scp> sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*-Reference-Cited by-同舟云学术

The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*

Published:2022-06-06 Issue:3 Volume:198 Page:459-477
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Roy Noémi B. A.¹²^ORCID,Da Costa Lydie³,Russo Roberta⁴⁵^ORCID,Bianchi Paola⁶^ORCID,Mañú‐Pereira Maria del Mar⁷,Fermo Elisa⁶,Andolfo Immacolata⁴⁵^ORCID,Clark Barnaby⁸,Proven Melanie⁹,Sanchez Mayka¹⁰¹¹,van Wijk Richard¹²,van der Zwaag Bert¹²,Layton Mark¹³,Rees David⁸^ORCID,Iolascon Achille⁴⁵^ORCID,

Affiliation:

1. Department of Haematology Oxford University Hospitals, NHS Foundation Trust Oxford UK

2. NIHR BRC Blood Theme Oxford UK

3. Hôpital Universitaire Robert Debré Paris France

4. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università degli Studi di Napoli Federico II Naples Italy

5. CEINGE Biotecnologie Avanzate Naples Italy

6. UOS Fisiopatologia delle Anemie Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano Milan Italy

7. Translational research in Rare Anaemia Disorders, Vall d'Hebron Research Institute Barcelona Spain

8. King's College Hospital King's College London UK

9. Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Oxford UK

10. Department of Basic Sciences, Iron metabolism: Regulation and Diseases Universitat Internacional de Catalunya (UIC) Barcelona Spain

11. BloodGenetics S.L. Diagnostics in Inherited Blood Diseases Barcelona Spain

12. Central Diagnostic Laboratory University Medical Center Utrecht, Utrecht University Utrecht The Netherlands

13. Imperial College London Hammersmith Hospital London UK

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18191

Reference25 articles.

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

2. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias

3. A novelPKLRgene mutation identified using advanced molecular techniques

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