The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-06-01
|
| Series: | HemaSphere |
| Online Access: | http://journals.lww.com/10.1097/HS9.0000000000000739 |
| _version_ | 1797281001828777984 |
|---|---|
| author | Noémi B. A. Roy Lydie Da Costa Roberta Russo Paola Bianchi Maria del Mar Mañú-Pereira Elisa Fermo Immacolata Andolfo Barnaby Clark Melanie Proven Mayka Sanchez Richard van Wijk Bert van der Zwaag Mark Layton David Rees Achille Iolascon on behalf of the British Society for Haematology and the European Hematology Association |
| author_facet | Noémi B. A. Roy Lydie Da Costa Roberta Russo Paola Bianchi Maria del Mar Mañú-Pereira Elisa Fermo Immacolata Andolfo Barnaby Clark Melanie Proven Mayka Sanchez Richard van Wijk Bert van der Zwaag Mark Layton David Rees Achille Iolascon on behalf of the British Society for Haematology and the European Hematology Association |
| author_sort | Noémi B. A. Roy |
| collection | DOAJ |
| first_indexed | 2024-03-07T16:50:19Z |
| format | Article |
| id | doaj.art-9374bbd49e7c4657be3e9a7c2dd0e7d2 |
| institution | Directory Open Access Journal |
| issn | 2572-9241 |
| language | English |
| last_indexed | 2024-03-07T16:50:19Z |
| publishDate | 2022-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | HemaSphere |
| spelling | doaj.art-9374bbd49e7c4657be3e9a7c2dd0e7d22024-03-03T05:33:39ZengWileyHemaSphere2572-92412022-06-0166e73910.1097/HS9.0000000000000739202206000-00019The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice PaperNoémi B. A. Roy0Lydie Da Costa1Roberta Russo2Paola Bianchi3Maria del Mar Mañú-Pereira4Elisa Fermo5Immacolata Andolfo6Barnaby Clark7Melanie Proven8Mayka Sanchez9Richard van Wijk10Bert van der Zwaag11Mark Layton12David Rees13Achille Iolascon14on behalf of the British Society for Haematology and the European Hematology Association1 Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom3 Hôpital Universitaire Robert Debré, Paris, France4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy6 UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milano, Italy7 Translational research in Rare Anaemia Disorders, Vall d’Hebron Research Institute, Barcelona, Spain6 UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milano, Italy4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy8 King’s College Hospital, King’s College, London, United Kingdom9 Genetics Laboratories, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom10 Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Barcelona, Spain12 Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands12 Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands13 Imperial College London, Hammersmith Hospital, London, United Kingdom8 King’s College Hospital, King’s College, London, United Kingdom4 Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italyhttp://journals.lww.com/10.1097/HS9.0000000000000739 |
| spellingShingle | Noémi B. A. Roy Lydie Da Costa Roberta Russo Paola Bianchi Maria del Mar Mañú-Pereira Elisa Fermo Immacolata Andolfo Barnaby Clark Melanie Proven Mayka Sanchez Richard van Wijk Bert van der Zwaag Mark Layton David Rees Achille Iolascon on behalf of the British Society for Haematology and the European Hematology Association The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper HemaSphere |
| title | The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper |
| title_full | The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper |
| title_fullStr | The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper |
| title_full_unstemmed | The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper |
| title_short | The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper |
| title_sort | use of next generation sequencing in the diagnosis of rare inherited anaemias a joint bsh eha good practice paper |
| url | http://journals.lww.com/10.1097/HS9.0000000000000739 |
| work_keys_str_mv | AT noemibaroy theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT lydiedacosta theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT robertarusso theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT paolabianchi theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT mariadelmarmanupereira theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT elisafermo theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT immacolataandolfo theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT barnabyclark theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT melanieproven theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT maykasanchez theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT richardvanwijk theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT bertvanderzwaag theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT marklayton theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT davidrees theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT achilleiolascon theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT onbehalfofthebritishsocietyforhaematologyandtheeuropeanhematologyassociation theuseofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT noemibaroy useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT lydiedacosta useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT robertarusso useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT paolabianchi useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT mariadelmarmanupereira useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT elisafermo useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT immacolataandolfo useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT barnabyclark useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT melanieproven useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT maykasanchez useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT richardvanwijk useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT bertvanderzwaag useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT marklayton useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT davidrees useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT achilleiolascon useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper AT onbehalfofthebritishsocietyforhaematologyandtheeuropeanhematologyassociation useofnextgenerationsequencinginthediagnosisofrareinheritedanaemiasajointbshehagoodpracticepaper |