The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper
Br J Haematol
.
2022 Aug;198(3):459-477.
doi: 10.1111/bjh.18191.
Epub 2022 Jun 6.
Authors
Noémi B A Roy
1
2
,
Lydie Da Costa
3
,
Roberta Russo
4
5
,
Paola Bianchi
6
,
Maria Del Mar Mañú-Pereira
7
,
Elisa Fermo
6
,
Immacolata Andolfo
4
5
,
Barnaby Clark
8
,
Melanie Proven
9
,
Mayka Sanchez
10
11
,
Richard van Wijk
12
,
Bert van der Zwaag
12
,
Mark Layton
13
,
David Rees
8
,
Achille Iolascon
4
5
;
British Society for Haematology/ European Hematology Association
Affiliations
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.
PMID:
35661144
DOI:
10.1111/bjh.18191
No abstract available
Publication types
Letter
MeSH terms
Anemia*
High-Throughput Nucleotide Sequencing*
Humans
Mutation