{"id":"https://openalex.org/W4281688264","doi":"https://doi.org/10.1097/hs9.0000000000000739","title":"The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper","display_name":"The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper","publication_year":2022,"publication_date":"2022-06-01","ids":{"openalex":"https://openalex.org/W4281688264","doi":"https://doi.org/10.1097/hs9.0000000000000739","pmid":"https://pubmed.ncbi.nlm.nih.gov/35686139","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9170004"},"language":"en","primary_location":{"id":"doi:10.1097/hs9.0000000000000739","doi":"https://doi.org/10.1097/hs9.0000000000000739","is_oa":true,"landing_page_url":"https://doi.org/10.1097/hs9.0000000000000739","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1097/hs9.0000000000000739","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078662250","display_name":"Noemi B. A. Roy","orcid":"https://orcid.org/0000-0002-0919-0790","observed_orcids":["https://orcid.org/0000-0002-0919-0790"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210147381","display_name":"Oxford University Hospitals NHS Trust","ror":"https://ror.org/03h2bh287","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"No\u00e9mi B. A. Roy","raw_affiliation_strings":["Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom","NIHR BRC Blood Theme, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149","https://openalex.org/I4210147381"]},{"raw_affiliation_string":"NIHR BRC Blood Theme, Oxford, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018458938","display_name":"Lydie M. Da Costa","orcid":"https://orcid.org/0000-0001-8806-6941","observed_orcids":["https://orcid.org/0000-0001-8806-6941"]},"institutions":[{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lydie Da Costa","raw_affiliation_strings":["H\u00f4pital Universitaire Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"H\u00f4pital Universitaire Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091406001","display_name":"Roberta Russo","orcid":"https://orcid.org/0000-0002-3624-7721","observed_orcids":["https://orcid.org/0000-0002-3624-7721"]},"institutions":[{"id":"https://openalex.org/I4210128854","display_name":"CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)","ror":"https://ror.org/033pa2k60","country_code":"IT","type":"company","lineage":["https://openalex.org/I4210128854"]},{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberta Russo","raw_affiliation_strings":["CEINGE Biotecnologie Avanzate, Naples, Italy","Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEINGE Biotecnologie Avanzate, Naples, Italy","institution_ids":["https://openalex.org/I4210128854"]},{"raw_affiliation_string":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064003351","display_name":"Paola Ilaria Bianchi","orcid":"https://orcid.org/0000-0001-5976-5233","observed_orcids":["https://orcid.org/0000-0001-5976-5233"]},"institutions":[{"id":"https://openalex.org/I2803066834","display_name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","ror":"https://ror.org/016zn0y21","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I189158943","https://openalex.org/I2803066834","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paola Bianchi","raw_affiliation_strings":["UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milano, Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milano, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110781653","display_name":"Mar\u00eda del Mar Ma\u00f1\u00fa\u2010Pereira","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210102407","display_name":"Vall d'Hebron Institut de Recerca","ror":"https://ror.org/01d5vx451","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210102407","https://openalex.org/I4387153040"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Maria del Mar Ma\u00f1\u00fa-Pereira","raw_affiliation_strings":["Translational research in Rare Anaemia Disorders, Vall d\u2019Hebron Research Institute, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translational research in Rare Anaemia Disorders, Vall d\u2019Hebron Research Institute, Barcelona, Spain","institution_ids":["https://openalex.org/I4210102407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080554564","display_name":"Elisa Fermo","orcid":"https://orcid.org/0000-0003-2812-8711","observed_orcids":["https://orcid.org/0000-0003-2812-8711"]},"institutions":[{"id":"https://openalex.org/I2803066834","display_name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","ror":"https://ror.org/016zn0y21","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I189158943","https://openalex.org/I2803066834","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elisa Fermo","raw_affiliation_strings":["UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milano, Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Milano, Milano, Italy","institution_ids":["https://openalex.org/I2803066834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043728055","display_name":"Immacolata Andolfo","orcid":"https://orcid.org/0000-0003-0493-812X","observed_orcids":["https://orcid.org/0000-0003-0493-812X"]},"institutions":[{"id":"https://openalex.org/I4210128854","display_name":"CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)","ror":"https://ror.org/033pa2k60","country_code":"IT","type":"company","lineage":["https://openalex.org/I4210128854"]},{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Immacolata Andolfo","raw_affiliation_strings":["CEINGE Biotecnologie Avanzate, Naples, Italy","Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEINGE Biotecnologie Avanzate, Naples, Italy","institution_ids":["https://openalex.org/I4210128854"]},{"raw_affiliation_string":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy","institution_ids":["https://openalex.org/I71267560"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054262747","display_name":"Barnaby E. Clark","orcid":"https://orcid.org/0000-0002-5394-1889","observed_orcids":["https://orcid.org/0000-0002-5394-1889"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I4210153400","display_name":"King's College Hospital","ror":"https://ror.org/044nptt90","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210111135","https://openalex.org/I4210153400"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Barnaby Clark","raw_affiliation_strings":["King\u2019s College Hospital, King\u2019s College, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King\u2019s College Hospital, King\u2019s College, London, United Kingdom","institution_ids":["https://openalex.org/I183935753","https://openalex.org/I4210153400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002730519","display_name":"Melanie Proven","orcid":"https://orcid.org/0009-0008-2251-2257","observed_orcids":["https://orcid.org/0009-0008-2251-2257"]},"institutions":[{"id":"https://openalex.org/I4210147381","display_name":"Oxford University Hospitals NHS Trust","ror":"https://ror.org/03h2bh287","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Melanie Proven","raw_affiliation_strings":["Genetics Laboratories, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Laboratories, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom","institution_ids":["https://openalex.org/I4210147381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057922683","display_name":"Mayka S\u00e1nchez","orcid":"https://orcid.org/0000-0002-6499-5989","observed_orcids":["https://orcid.org/0000-0002-6499-5989"]},"institutions":[{"id":"https://openalex.org/I3123915005","display_name":"Universitat Internacional de Catalunya","ror":"https://ror.org/00tse2b39","country_code":"ES","type":"education","lineage":["https://openalex.org/I3123915005"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mayka Sanchez","raw_affiliation_strings":["BloodGenetics S. L. Diagnostics in Inherited Blood Diseases, Barcelona, Spain","Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BloodGenetics S. L. Diagnostics in Inherited Blood Diseases, Barcelona, Spain","institution_ids":[]},{"raw_affiliation_string":"Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Barcelona, Spain","institution_ids":["https://openalex.org/I3123915005"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071238879","display_name":"Richard van Wijk","orcid":"https://orcid.org/0000-0002-8236-8292","observed_orcids":["https://orcid.org/0000-0002-8236-8292"]},"institutions":[{"id":"https://openalex.org/I193662353","display_name":"Utrecht University","ror":"https://ror.org/04pp8hn57","country_code":"NL","type":"education","lineage":["https://openalex.org/I193662353"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Richard van Wijk","raw_affiliation_strings":["Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104075781","display_name":"Bert van der Zwaag","orcid":"https://orcid.org/0000-0001-5545-4630","observed_orcids":["https://orcid.org/0000-0001-5545-4630"]},"institutions":[{"id":"https://openalex.org/I193662353","display_name":"Utrecht University","ror":"https://ror.org/04pp8hn57","country_code":"NL","type":"education","lineage":["https://openalex.org/I193662353"]},{"id":"https://openalex.org/I3018483916","display_name":"University Medical Center Utrecht","ror":"https://ror.org/0575yy874","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I3018483916"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Bert van der Zwaag","raw_affiliation_strings":["Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands","institution_ids":["https://openalex.org/I193662353","https://openalex.org/I3018483916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040935737","display_name":"Mark Layton","orcid":"https://orcid.org/0000-0002-1219-1321","observed_orcids":["https://orcid.org/0000-0002-1219-1321"]},"institutions":[{"id":"https://openalex.org/I2801748203","display_name":"Hammersmith Hospital","ror":"https://ror.org/05jg8yp15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I153355300","https://openalex.org/I2801748203"]},{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark Layton","raw_affiliation_strings":["Imperial College London, Hammersmith Hospital, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London, Hammersmith Hospital, London, United Kingdom","institution_ids":["https://openalex.org/I2801748203","https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024034145","display_name":"David C. Rees","orcid":"https://orcid.org/0000-0003-3647-1050","observed_orcids":["https://orcid.org/0000-0003-3647-1050","https://orcid.org/0000-0003-3600-2852"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I4210153400","display_name":"King's College Hospital","ror":"https://ror.org/044nptt90","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210111135","https://openalex.org/I4210153400"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David Rees","raw_affiliation_strings":["King\u2019s College Hospital, King\u2019s College, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King\u2019s College Hospital, King\u2019s College, London, United Kingdom","institution_ids":["https://openalex.org/I183935753","https://openalex.org/I4210153400"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022755764","display_name":"Achille Iolascon","orcid":"https://orcid.org/0000-0002-9558-0356","observed_orcids":["https://orcid.org/0000-0002-9558-0356"]},"institutions":[{"id":"https://openalex.org/I4210128854","display_name":"CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)","ror":"https://ror.org/033pa2k60","country_code":"IT","type":"company","lineage":["https://openalex.org/I4210128854"]},{"id":"https://openalex.org/I71267560","display_name":"University of Naples Federico II","ror":"https://ror.org/05290cv24","country_code":"IT","type":"education","lineage":["https://openalex.org/I71267560"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Achille Iolascon","raw_affiliation_strings":["CEINGE Biotecnologie Avanzate, Naples, Italy","Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEINGE Biotecnologie Avanzate, Naples, Italy","institution_ids":["https://openalex.org/I4210128854"]},{"raw_affiliation_string":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy","institution_ids":["https://openalex.org/I71267560"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":14,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2480,"currency":"USD","value_usd":2480},"apc_paid":{"value":2480,"currency":"USD","value_usd":2480},"fwci":4.6187,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.95724907,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"6","issue":"6","first_page":"e739","last_page":"e739"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.6474999785423279,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.6474999785423279,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.2273000031709671,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.02419999986886978,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.9369999766349792},{"id":"https://openalex.org/keywords/diamond-blackfan-anemia","display_name":"Diamond-Blackfan anemia","score":0.8330000042915344},{"id":"https://openalex.org/keywords/congenital-dyserythropoietic-anemia","display_name":"congenital dyserythropoietic anemia","score":0.9610000252723694},{"id":"https://openalex.org/keywords/hereditary-spherocytosis","display_name":"hereditary spherocytosis","score":0.9869999885559082},{"id":"https://openalex.org/keywords/red-cell-membrane-disorders","display_name":"red blood cell membrane disorders","score":0.9100000262260437},{"id":"https://openalex.org/keywords/pyruvate-kinase-deficiency","display_name":"pyruvate kinase deficiency","score":0.8820000290870667},{"id":"https://openalex.org/keywords/diagnostic-testing","display_name":"diagnostic testing","score":0.45899999141693115},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.36899998784065247}],"concepts":[{"id":"https://openalex.org/C2780182762","wikidata":"https://www.wikidata.org/wiki/Q1630279","display_name":"Guideline","level":2,"score":0.608978807926178},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6074749231338501},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.4793575406074524},{"id":"https://openalex.org/C2777286243","wikidata":"https://www.wikidata.org/wiki/Q5591926","display_name":"Grading (engineering)","level":2,"score":0.4604339003562927},{"id":"https://openalex.org/C194409129","wikidata":"https://www.wikidata.org/wiki/Q103824","display_name":"Hematology","level":2,"score":0.42144089937210083},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.398703396320343},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.387795627117157},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3853839337825775},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.18752408027648926},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11997383832931519},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C18903297","wikidata":"https://www.wikidata.org/wiki/Q7150","display_name":"Ecology","level":1,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1097/hs9.0000000000000739","doi":"https://doi.org/10.1097/hs9.0000000000000739","is_oa":true,"landing_page_url":"https://doi.org/10.1097/hs9.0000000000000739","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9170004","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9170004/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9170004/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemasphere","raw_type":"Text"},{"id":"pmid:35686139","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35686139","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"Journal Article"},{"id":"pmh:oai:kclpure.kcl.ac.uk:openaire/8e840b59-5f71-4bb3-95d2-022a711956d3","doi":null,"is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/8e840b59-5f71-4bb3-95d2-022a711956d3","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Roy, N B A, Da Costa, L, Russo, R, Bianchi, P, Del Mar Ma\u00f1\u00fa-Pereira, M, Fermo, E, Andolfo, I, Clark, B, Proven, M, Sanchez, M, Van Wijk, R, Van Der Zwaag, B, Layton, M, Rees, D & Iolascon, A 2022, 'The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias : A Joint BSH/EHA Good Practice Paper', HemaSphere, vol. 6, no. 6, e739. https://doi.org/10.1097/HS9.0000000000000739","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:9374bbd49e7c4657be3e9a7c2dd0e7d2","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/9374bbd49e7c4657be3e9a7c2dd0e7d2","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"HemaSphere, Vol 6, Iss 6, p e739 (2022)","raw_type":"article"},{"id":"pmh:oai:dspace.library.uu.nl:1874/446500","doi":null,"is_oa":true,"landing_page_url":"https://dspace.library.uu.nl/handle/1874/446500","pdf_url":null,"source":{"id":"https://openalex.org/S4306401649","display_name":"Utrecht University Repository (Utrecht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193662353","host_organization_name":"Utrecht University","host_organization_lineage":["https://openalex.org/I193662353"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1097/hs9.0000000000000739","doi":"https://doi.org/10.1097/hs9.0000000000000739","is_oa":true,"landing_page_url":"https://doi.org/10.1097/hs9.0000000000000739","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310646","display_name":"European Hematology Association","ror":"https://ror.org/05hk0hn26"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4281688264.pdf","grobid_xml":"https://content.openalex.org/works/W4281688264.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W2001906057","https://openalex.org/W2014150086","https://openalex.org/W2026696492","https://openalex.org/W2051978340","https://openalex.org/W2057152418","https://openalex.org/W2080762011","https://openalex.org/W2090321928","https://openalex.org/W2116138166","https://openalex.org/W2118272646","https://openalex.org/W2126762990","https://openalex.org/W2343669241","https://openalex.org/W2419183473","https://openalex.org/W2496481565","https://openalex.org/W2560641002","https://openalex.org/W2592854746","https://openalex.org/W2620447037","https://openalex.org/W2793089824","https://openalex.org/W2810548263","https://openalex.org/W2885671628","https://openalex.org/W2889574471","https://openalex.org/W2921814081","https://openalex.org/W2943449347","https://openalex.org/W2971686951","https://openalex.org/W2989239676","https://openalex.org/W3043938349"],"related_works":["https://openalex.org/W4408300976","https://openalex.org/W2947533133","https://openalex.org/W4221087262","https://openalex.org/W2544539914","https://openalex.org/W2910539741","https://openalex.org/W4220887148","https://openalex.org/W2979539046","https://openalex.org/W4416099124","https://openalex.org/W2746218970","https://openalex.org/W4280595735"],"abstract_inverted_index":{"METHODOLOGY":[0],"The":[1,41,65,273,553,657,861,890,1375,1388,1413,1467,1660,1938,2054,2797,2814,2886,2953,3232,3458,3502,3623,4036,4591,4808,5058,5431,5457,5536,5582,5595,5766,5777,5817,5842,5901,6058],"British":[2],"Society":[3,4249],"for":[4,25,129,249,474,486,577,668,854,883,1154,1167,1183,1190,1332,1386,1449,1456,1464,1474,1592,1611,1676,1848,1981,1994,2093,2127,2224,2230,2273,2284,2334,2469,2612,2625,2756,2923,2955,3254,3320,3343,3480,3556,3568,3629,3776,3788,4022,4088,4099,4232,4364,4481,4525,4607,4623,4887,5109,5389,5454,5525,5542,5618,5833,5859,5933,6127],"Haematology":[5,222,232,5780],"(BSH)":[6],"produces":[7],"Good":[8,74],"Practice":[9,75],"Papers":[10],"to":[11,35,38,53,59,90,135,201,375,433,437,440,443,563,591,661,768,808,949,964,970,994,1031,1056,1122,1137,1220,1278,1284,1303,1315,1368,1419,1430,1441,1444,1461,1503,1515,1530,1614,1617,1699,1770,1782,1836,1931,2010,2013,2046,2058,2066,2075,2089,2169,2197,2206,2217,2221,2260,2315,2324,2337,2412,2427,2448,2455,2475,2502,2520,2563,2623,2646,2698,2739,2819,2856,2893,2985,2998,3104,3131,3243,3283,3293,3310,3349,3376,3413,3447,3645,3658,3670,3675,3738,3750,3822,3871,4019,4063,4111,4165,4189,4194,4218,4223,4229,4280,4330,4367,4370,4377,4390,4435,4531,4556,4560,4581,4635,4645,4703,4727,4760,4779,4838,4847,4895,4919,4923,4974,5040,5047,5080,5219,5305,5321,5371,5419,5428,5479,5561,5571,5588,5744,5821,5847,5923,5974,6007,6103,6113],"recommend":[12],"good":[13,673,1301,1535,5790,5839,5867,5912],"practice":[14,674,1302,1536,5370,5418,5791,5840,5868,5913],"in":[15,131,279,341,561,614,641,719,731,739,749,780,981,1011,1027,1052,1095,1246,1325,1381,1485,1551,1560,1573,1631,1645,1741,1839,1863,1912,2048,2060,2162,2185,2200,2251,2295,2311,2341,2393,2492,2524,2553,2639,2689,2789,2883,2902,2905,2969,2979,2990,3121,3164,3221,3493,3540,3582,3616,3652,3660,3688,3696,3756,3830,3862,3880,3960,3964,3973,4047,4137,4155,4210,4290,4300,4333,4341,4348,4508,4596,4618,4723,4741,4816,4824,4872,4884,4944,5028,5055,5090,5146,5156,5177,5240,5282,5400,5573,5702,5836,5862,5891,6051,6098],"areas":[16],"where":[17,345,782,2425,2508,2641,2769,3578,3912,3953,4145,4693,4931,5148,5273,5448],"there":[18,618,1037,2182,2586,2743,3939,4647,4714],"is":[19,33,286,567,619,629,708,717,765,778,787,925,985,1015,1038,1172,1218,1300,1322,1418,1512,1519,1544,1624,1717,1858,1941,2109,2166,2178,2188,2203,2240,2281,2308,2321,2348,2372,2417,2445,2483,2511,2514,2556,2561,2587,2610,2668,2686,2744,2818,2983,3240,3275,3316,3394,3399,3430,3575,3593,3716,3843,3860,3886,3903,3940,4058,4091,4105,4162,4237,4271,4288,4433,4465,4648,4695,4715,4734,4765,4771,4836,5077,5151,5174,5183,5193,5204,5215,5233,5245,5318,5368,5398,5409,5416,5478,5494,5546,5559,5569,5977,6101],"a":[20,27,80,292,578,582,596,620,758,770,1039,1230,1309,1612,1682,1689,1707,1721,1724,1929,1985,2027,2040,2061,2080,2256,2266,2276,2351,2504,2534,2588,2777,2821,2857,2894,2911,2924,3012,3258,3269,3287,3291,3313,3324,3329,3340,3397,3487,3497,3570,3590,3607,3677,3705,3712,3721,3744,3761,3807,3844,3909,3925,3961,3993,4014,4043,4146,4365,4375,4381,4426,4515,4533,4585,4632,4710,4897,5115,5152,5248,5337,5394,5405,5483,5685,5707,5720,5919],"limited":[21,4711],"evidence":[22,57,1385,2116,3813,4759,6039],"base":[23],"but":[24,810,820,873,1524,1665,1888,2978,3763,4269],"which":[26,1162,1475,1558,1581,1777,2021,2186,2280,2787,2970,3172,3676,3779,3826,3875,4326,4388,4432,4474,5104,5609,5648],"degree":[28,621],"of":[29,43,56,63,108,203,207,211,235,245,258,275,282,295,303,322,330,349,352,361,369,377,397,402,526,537,555,585,600,616,622,652,664,671,697,700,705,712,756,760,776,830,833,840,847,866,871,875,902,911,929,942,1004,1024,1049,1083,1086,1093,1107,1114,1126,1130,1227,1232,1240,1256,1262,1269,1292,1295,1335,1350,1359,1371,1384,1397,1411,1415,1425,1433,1469,1483,1508,1548,1554,1628,1634,1648,1654,1671,1688,1692,1703,1727,1735,1747,1764,1817,1825,1845,1859,1866,1877,1895,1909,1915,1922,1951,1971,1987,2016,2042,2056,2083,2104,2112,2121,2153,2189,2235,2278,2327,2355,2368,2451,2462,2487,2490,2547,2603,2615,2618,2629,2676,2704,2799,2871,2910,2932,2934,3008,3015,3089,3107,3196,3224,3234,3264,3272,3322,3328,3331,3401,3404,3417,3436,3460,3490,3496,3527,3585,3597,3619,3631,3711,3723,3730,3865,3985,3997,4003,4017,4038,4078,4085,4103,4126,4132,4259,4383,4412,4447,4459,4471,4540,4545,4547,4564,4584,4587,4651,4689,4788,4798,4856,4890,4929,4989,5000,5088,5118,5124,5159,5211,5237,5326,5336,5342,5359,5404,5439,5465,5471,5500,5520,5556,5598,5655,5670,5722,5760,5787,5897,5910,5921,5944,5979,6023,6047,6111,6130],"consensus":[30],"or":[31,146,153,155,159,161,165,168,170,173,178,183,186,399,469,478,491,507,523,624,643,795,909,936,1187,1448,1547,1627,1775,1868,1882,1900,2033,2051,2379,2439,2760,2807,2861,3079,3425,3476,3536,3812,3850,3918,3988,4479,4708,4819,4886,4961,5261,5285,5340,5350,5356,5660,6054],"uniformity":[32],"likely":[34,2984,3639,4164,5570],"be":[36,69,202,335,592,812,991,1000,1045,1119,1236,1279,1343,1439,1478,1566,1585,1590,1601,1615,1700,1779,1978,2011,2125,2248,2325,2362,2388,2500,2567,2581,2594,2637,2647,2654,2661,2696,2714,2737,2751,2774,2795,2899,2941,2986,3057,3069,3119,3150,3176,3229,3252,3284,3371,3453,3506,3525,3554,3610,3627,3650,3681,3781,3817,3828,3837,3855,3878,4030,4067,4112,4166,4186,4267,4298,4331,4352,4368,4386,4420,4498,4512,4523,4529,4554,4571,4579,4594,4675,4792,4803,4814,4861,4893,4914,4920,4934,4942,4975,4979,4993,5007,5018,5107,5121,5143,5169,5251,5271,5303,5331,5384,5426,5434,5446,5451,5475,5540,5562,5586,5591,5602,5614,5622,5634,5646,5676,5698,5711,5716,5739,5755,5770,6061,6083,6104],"beneficial":[37],"patient":[39,2482,3010,3073,3109,4157,4691,5327],"care.":[40],"Grading":[42],"Recommendations":[44,2633,3501,3655,5616],"Assessment,":[45],"Development":[46],"and":[47,58,106,113,124,143,229,263,266,320,326,388,428,447,450,455,462,515,570,581,608,634,648,654,667,685,695,738,743,751,791,823,894,907,914,922,931,1102,1157,1175,1265,1337,1348,1361,1458,1480,1497,1580,1603,1652,1658,1678,1686,1697,1714,1719,1744,1749,1799,1829,1948,1974,1990,1997,2044,2077,2138,2158,2165,2193,2265,2302,2305,2395,2459,2551,2565,2663,2674,2706,2728,2811,2823,2830,2915,2937,2961,2963,2966,3005,3022,3052,3171,3246,3299,3303,3364,3407,3470,3512,3530,3566,3589,3638,3725,3800,3846,3892,3894,3932,3967,3975,4032,4053,4075,4130,4207,4214,4225,4251,4338,4355,4400,4438,4467,4550,4615,4692,4794,4822,4827,4842,4904,4958,5025,5141,5229,5295,5314,5442,5468,5532,5590,5627,5636,5658,5680,5688,5695,5700,5713,5735,5814,5828,5864,5886,5895,5926,5950,5957,5988,6000,6063,6088,6096,6106],"Evaluation":[48],"(GRADE)":[49],"nomenclature":[50,4244],"was":[51,77,214,239,4121,5611],"used":[52,1479,1591,2501,2638,2738,2997,3058,3555,4324,4513,5304,5612],"evaluate":[54],"levels":[55,1746],"assess":[60,1304,2079,4780],"the":[61,83,91,104,109,138,208,212,217,225,230,236,242,246,259,267,280,350,358,370,564,601,669,693,710,725,753,918,1084,1096,1124,1225,1228,1241,1254,1258,1263,1266,1270,1290,1326,1333,1338,1346,1357,1403,1409,1423,1431,1472,1481,1486,1509,1525,1531,1540,1552,1561,1570,1575,1632,1642,1646,1704,1712,1757,1765,1795,1808,1818,1822,1843,1864,1875,1913,1920,1925,1949,1968,2017,2049,2119,2140,2163,2195,2233,2328,2418,2428,2435,2456,2460,2481,2525,2574,2591,2613,2682,2690,2717,2770,2790,2869,2872,2884,2908,2921,2935,2945,2967,2991,3000,3009,3060,3072,3087,3090,3105,3108,3133,3145,3153,3161,3166,3200,3222,3262,3294,3378,3385,3402,3405,3427,3434,3437,3491,3494,3519,3522,3528,3541,3583,3586,3605,3613,3617,3646,3653,3661,3671,3701,3728,3739,3766,3792,3823,3831,3841,3863,3866,3872,3881,3933,3946,3965,4001,4007,4076,4086,4096,4109,4115,4119,4127,4133,4138,4156,4159,4169,4174,4177,4181,4211,4220,4242,4254,4262,4283,4313,4391,4394,4397,4401,4409,4442,4445,4456,4460,4462,4484,4492,4495,4509,4519,4538,4543,4565,4628,4655,4659,4687,4690,4697,4724,4728,4742,4745,4751,4768,4799,4806,4817,4825,4834,4864,4873,4935,4945,4990,4998,5013,5021,5034,5042,5056,5063,5091,5100,5125,5136,5157,5197,5224,5230,5308,5316,5322,5364,5412,5422,5429,5437,5440,5463,5469,5492,5501,5515,5550,5557,5565,5599,5637,5653,5703,5745,5785,5824,5829,5849,5892,5898,5904,5908,5924,5942,6024,6029,6045,6048,6066,6086,6094,6109,6116,6118,6121,6128],"strength":[62,6046],"recommendations.":[64,4747],"GRADE":[66],"criteria":[67,1283,1367,1583,1588,1608,3174,3552,4361,5024],"can":[68,333,639,811,999,1118,1477,1778,1820,1880,2247,2293,2361,2566,3118,3149,3609,3680,3816,3827,3999,4419,4570,4940,5250,5301,5445],"found":[70,3120,3282,3922,4136,4154],"at":[71,94,392,1408,2544,2626,2868,4537,4795,4810,5084,5564,5784,5937,6108],"http://www.gradeworkinggroup.org.":[72],"This":[73,96,638,1133,1170,1249,1437,1534,2151,2246,2416,2559,3301,3439,3949,4405,5253,5477,5507,5568],"Paper":[76],"produced":[78,3429],"as":[79,289,769,800,1140,1142,1146,1395,1517,1794,1807,2114,2345,2375,2466,2708,2765,2947,2949,3083,3184,3465,3790,3981,4072,4500,4514,4731,4736,5235,5275,5288,5362,5575,5853,5855],"collaboration":[81],"with":[82,519,533,605,850,879,1112,1317,1902,2070,2420,2539,2569,2702,2863,2993,3011,3102,3286,3334,3373,3604,3683,3692,3700,3718,3720,3727,3743,3760,3797,3924,3945,4006,4069,4227,4309,4535,4641,4997,5114,5187,5196,5411,5684,5689,5757],"European":[84],"Hematology":[85],"Association":[86,1349,4603],"(EHA)":[87],"compiled":[88],"according":[89,4188,4726],"BSH":[92,105,218,226,247,5778,5825,5830,5902,6087],"process":[93,1085,3305],"http://scanmail.trustwave.com/?c=8248&d=68DV3b1jbPPsVn.":[95],"guideline":[97,675],"group":[98,6026,6031],"included":[99,198,3651,3829,3879,4793,4815,4943,4980,5122,5176,5701,5764],"UK-based":[100],"medical":[101],"experts":[102],"representing":[103],"members":[107,243,257,4483,4577,5377,5783],"EHA":[110,260,268,5850,5856,6089],"Red":[111,261,384],"Cell":[112,262,385],"Iron":[114,264],"Scientific":[115],"Working":[116],"Group":[117],"(SWG).":[118],"Literature":[119],"review":[120,2076],"details":[121],"MEDLINE,":[122],"EMBASE":[123],"PubMED":[125],"were":[126,192,197,5490,5763,5793],"searched":[127],"systematically":[128],"publications":[130,191,296,4738,4776],"English":[132],"from":[133,189,1091,1907,2073,2776,3353,3381,3765,4668,4706,5292,5374,5941,5954,5964,5991,5997,6010,6065],"2000":[134],"2019":[136],"using":[137,556,814,818,1846,1945,1984,2026,2401,3235,3273,4241,4287,4322],"following":[139,1541,4443,5064],"key":[140,359],"words.":[141],"\u2018NGS\u2019":[142,659],"\u2018next-generation":[144],"sequencing\u2019":[145,149],"\u2018high":[147],"throughput":[148],"AND":[150],"\u2018haemolytic":[151],"anaemia\u2019":[152,158,164,167],"\u2018DBA\u2019":[154],"\u2018Diamond":[156],"Blackfan":[157],"\u2018CDA\u2019":[160],"\u2018congenital":[162],"dyserythropoietic":[163,313,542,1198],"\u2018sideroblastic":[166],"\u2018HS\u2019":[169],"\u2018hereditary":[171],"spherocytosis\u2019":[172],"\u2018red":[174,179],"cell":[175,180,324,1148,1165,1656,2370,2725,2730,2780,3469,3482],"membrane":[176,325,511,1168,2731,3483],"disorders\u2019":[177,182],"enzyme":[181,1149,2467,2726],"\u2018PK":[184],"deficiency\u2019":[185],"\u2018PKD\u2019.":[187],"References":[188],"relevant":[190,4786,5375,5970,6017],"also":[193,240,253,334,603,821,1954,3317,3950,4152,4238,4674,4941,5062,5302,5845],"searched.":[194],"Conference":[195],"abstracts":[196],"if":[199,1319,1961,2181,3277,3732,3784,4713,5223,5482,5631,5741,6035,6071],"deemed":[200],"particular":[204,342,579,1860,3341],"relevance.":[205],"Review":[206,210],"manuscript":[209,213,6009],"performed":[215,2582,2752],"by":[216,256,291,1784,1998,2160,2350,3144,3422,3456,3612,4756,4805,4863,5206,5333,5514,5549,5593,5665],"Guidelines":[219,227,269,5851],"Committee":[220,228,5852],"General":[221,231,5779],"Task":[223,5781,5927],"Force,":[224],"sounding":[233,5826],"board":[234,5952],"BSH.":[237],"It":[238,251,1299,2177,2320,5167,5367,5644],"on":[241,421,632,1224,1253,1289,1422,1492,1706,1752,1756,2000,2004,2142,2148,2433,2573,2681,2716,2804,3152,3390,3433,3509,3518,4408,4430,4455,4663,5020,5033,5099,5436,5553,6085],"section":[244],"website":[248,6070],"comment.":[250],"has":[252,610,1312,2134,2155,3062,3074,3544,3920,4151,4985,5226,5311],"been":[254,611,1313,1833,2135,2156,3063,3206,3546,3564,3921,4153,4328,4986,5227,5312,5461,5505,5651],"reviewed":[255,4778],"SWG":[265],"Executive":[270,5857],"Committee.":[271],"INTRODUCTION":[272],"use":[274,1462,2198,2703,2798,4095,5774],"next-generation":[276,1216],"sequencing":[277,683,688,908,915,923,933,1857,2450,2675,4832,5067,5214,5244,5300],"(NGS)":[278],"diagnosis":[281,626,1432,1553,1633,1680,1726,1957,2330,2386,2578,2592,2906,3014,3134,3492,3808,5724,5731],"rare":[283,306,521,524,1434,1555,1635,2094,2211,2470,3956],"inherited":[284,1435,1972,2095,2757,3016,3332],"anaemias":[285,307,314,318,332,2212,2759],"increasingly":[287,3230],"common,":[288],"evidenced":[290],"growing":[293],"number":[294,584,802,1062,1231,1250,1255,1691,2055,2082,3330,4382],"describing":[297],"its":[298,2207],"clinical":[299,569,1100,1465,1713,3587,3614,3647,3672,3740,3751,3799,3873,4116,5413,5583,5730],"utility.1\u20136":[300],"Excluding":[301],"disorders":[302,321,1653,2732],"globin":[304,1661,1672,1791,1802,1827,1840,1855,1885,2019,2678,2699,3336],"synthesis,":[305],"include":[308,677,1641,2047,2059,2600,2719,3659,4200,4869],"Diamond-Blackfan":[309,546,1202],"anaemia":[310,346,4932],"(DBA),":[311],"congenital":[312,316,541,1197],"(CDA),":[315],"sideroblastic":[317],"(CSA),":[319],"red":[323,550,1147,1164,1655,2369,2724,2729,3468,3481],"enzymes.":[327],"Other":[328,4192,5518],"forms":[329],"genetic":[331,343,1767,1992,2132,2244,2306,2385,2407,2496,2509,2577,2608,2683,2771,2864,2877,2964,2981,3001,3219,3326,3499,4149,5472,5638,5723],"considered":[336,2662],"while":[337,5044,5172],"establishing":[338],"NGS":[339,557,706,1089,1214,1426,1447,1470,1545,1565,1578,1594,1625,1639,1753,1847,2001,2187,2199,2403,2444,2634,2667,2794,2800,3054,3095,3169,3503,3558,4660,4679],"panels,":[340,2002,5180],"syndromes,":[344,4930],"comprises":[347],"one":[348,794,3853,3913,4161,5402],"constellation":[351],"symptoms.":[353],"Table":[354,364,690,826,2098],"1":[355,530,2532,4951,5164],"briefly":[356],"summarises":[357],"aspects":[360,2933],"these":[362,1366,1732,2287,2359,2554,3148,3418,3533,4671,4938,5656],"conditions.":[363],"1.":[365,721,3665],"-":[366,828],"Key":[367],"Aspects":[368],"Rare":[371],"Anaemias":[372],"Not":[373],"Due":[374],"Disorders":[376,390],"Haemoglobin":[378,1871],"Synthesis":[379],"DBA":[380,544,1200],"CDA":[381,1195],"Sideroblastic":[382],"Anaemia":[383],"Membrane/Cation":[386],"Leaking":[387],"Enzyme":[389],"Age":[391],"presentation":[393,1716,3588],"Usually":[394,404,407,435],"2\u20133":[395],"mo":[396],"age":[398],"<first":[400],"year":[401],"life":[403,653],"child/young":[405,408],"adult":[406,409,411],"Foetal/neonate/child/young":[410],"Associated":[412],"features":[413,572],"CraniofacialSkeletalCardiacUrogenital":[414],"tract":[415],"Distal":[416],"limbIron":[417],"overload":[418],"Ring":[419],"sideroblasts":[420],"bone":[422,2766,2858,2925,2958,3080],"marrow":[423,2767,2859,2926,2959,3081],"aspiration":[424,2960],"JaundiceHepatosplenomegalyGallstonesIron":[425],"overloadProgressive":[426],"myopathy":[427],"neurocognitive":[429],"impairmentaLymphoedemab":[430],"Severity":[431],"Moderate":[432],"severe":[434,441,444,535,1932],"mild":[436,1930,2290],"moderate":[438],"Mild":[439,442],"Treatment":[445],"CorticosteroidsTransfusions":[446],"chelationBMT":[448],"InterferonTransfusions":[449],"chelationOften":[451,456],"none":[452,457,460,4626],"needed":[453,458,4837,5217],"Transfusions":[454],"Often":[459],"neededSplenectomyTransfusions":[461],"chelationNew":[463],"agents":[464],"Genetics":[465,1109,1297],"Autosomal":[466,489,505],"dominant":[467,506,1898,2522],"(45%)":[468],"de":[470,2267,5390],"novo":[471,2268,5391],"(other":[472,484],"inheritance":[473,2264,2619,3998],"DBA-like":[475,487],"disease)Ribosomal":[476],"proteins":[477],"other":[479,1177,1532,1728,2761,2875,3777,4134,4310,4575,4642,5160],"genes":[480,485,588,726,735,742,761,777,849,869,969,1028,1053,1643,1662,1705,2045,2057,2123,2141,2154,2174,2477,3203,3280,3689,3697,3757,3820,3868,4315,4502,4790,4812,4939,5458,5467,5577,5649],"affecting":[481,650],"ribosome":[482],"biogenesis":[483],"disease)":[488],"recessive":[490,2263,3910,5406],"dominant,":[492],"X-linkedVesicle":[493],"trafficking,":[494],"heterochromatin":[495],"assembly,":[496],"nuclear":[497],"proteins,":[498],"transcription":[499],"factors":[500],"X-linked;":[501],"autosomal":[502,2521],"recessiveHaem":[503],"synthesis":[504,5894],"recessive;":[508],"X-":[509],"linkedRBC":[510],"cytoskeleton,":[512],"RBC":[513,516,548],"transporters":[514],"enzymes":[517],"aAssociated":[518],"some":[520,534,851,880,996,1788,1830,2128,2201,2252,2366,2413,2442,2493,2851,2918,3187,3213,3416,4416,4563,4638,4749,5036,5241,5750],"enzymopathies":[522],"form":[525,536,3113,3223,4000,4016],"glucose":[527],"transporter":[528],"type":[529,699,1468],"(GLUT1)":[531],"variants.bAssociated":[532],"hereditary":[538,1155,2226,2343,2516,2596],"stomatocytosis.CDA":[539],"=":[540,545,549,1060,1065,1070,1075,1196,1201,1205,1208,1211,1215],"anaemia;":[543,1203],"Anaemia;":[547],"blood":[551,1953,2575,2826,2951,3034],"cell.":[552],"advantages":[554,694,2887],"over":[558,3237],"single-gene":[559],"testing,":[560,1754],"addition":[562,4568],"cost":[565,2900,2913,3245,4054],"effectiveness,":[566],"that":[568,613,1029,1054,1117,1341,1427,1451,2171,2213,2241,2590,2620,2685,2712,2889,2939,3098,3204,3276,3396,3408,3426,3450,3602,3703,3715,3804,3840,3847,3857,3889,3938,3990,4009,4020,4092,4183,4282,4490,4551,4574,4682,4774,4970,5171,5203,5279,5307,5380,5408,5421,5459,5481,5486,5545,5719,6042],"laboratory":[571,1613,1715,2271,3006,3398,3523,4366,4376,4392,4423,4510,4592,4629,4656,4698,4725,4826],"are":[573,728,736,746,762,805,1243,1378,1428,1459,1527,1569,1609,1663,1733,1772,1804,1811,1852,1967,2146,2175,2183,2210,2214,2288,2437,2542,2621,2644,2888,2972,3019,3100,3129,3160,3180,3281,3356,3411,3580,3897,3929,3958,3972,4172,4286,4321,4362,4503,4684,4754,4777,4852,4971,5026,5133,5280,5578,5663,6078],"often":[574,986,1016,1942,2215,2289,4059,4346],"not":[575,1019,1173,1666,1812,1890,1943,3023,3452,3545,3748,3869,3877,3887,4272,4487,4766,4972,4978,5184,5216,5504,5512,5661,5726],"specific":[576,1429,1758,1991,2024,2452,4190,4263,4982],"condition,":[580],"large":[583,586,2081,4921],"candidate":[587],"might":[589,4066],"need":[590,1277,2922,4217,5039,5046],"analysed":[593],"before":[594,2331,2390,2583,2666,2753,2833,5010,5247,5773],"making":[595,1694,2472],"diagnosis.":[597,1466,1850,3500],"A":[598,702,4141],"proportion":[599,5555],"patients":[602,1926,1976,4536,5147],"present":[604,5134,5281],"overlapping":[606],"phenotypes,":[607],"it":[609,1463,1476,1484,1695,2242,2473,3067,3393,3538,3835,3885,4464,4527,4666,4705,4770,5415,5714,6056,6072],"shown":[612,4329],"10%\u201340%":[615],"cases,":[617,1711,2852,4750],"misdiagnosis":[623,2489],"no":[625,783,2190,3941,4716,5487,5969,5982,6016],"when":[627,1854,2480,2585,2742,2943],"this":[628,672,713,716,1320,1416,1454,1518,2346,2396,2540,2598,2853,2890,3084,3256,3789,3858,3979,4010,4057,4270,4301,4694,4764,4867,5095,5289,5449,5642,5666,5789,5838,5866,5911,5975,6008,6052,6099,6131],"based":[630,1288,3508,5019],"purely":[631,2204],"phenotype":[633,3061,3106,3762,4493,4688,5544,5558],"traditional":[635,2815],"non-NGS":[636],"testing.1,6":[637],"result":[640,2294,5291],"incorrect":[642],"inadequate":[644],"treatment,":[645],"causing":[646],"anxiety":[647],"adversely":[649],"quality":[651,1339,1582,3173,4620],"potentially":[655,1739,4142],"cost.":[656,2208],"term":[658],"refers":[660],"all":[662,741,917,1239,1305,1362,1372,1702,1975,2139,3218,3344,5888],"types":[663,3657,4855,5470],"high-throughput":[665],"sequencing,":[666],"purposes":[670],"will":[676,1007,1234,1251,1489,1538,2124,2397,2409,2599,2801,2974,3228,3388,4406,4453,4497,4522,4680,5539,6027,6060,6082],"targeted":[678,824,982,1066,3354],"resequencing":[679,1067],"(t-NGS),":[680],"whole":[681,686,797,891,1071,1076,5231,5767],"exome":[682,1072],"(WES)":[684],"genome":[687,872,892,957,1077],"(WGS).":[689],"2":[691,886,2929,3954,4879],"shows":[692,2930],"disadvantages":[696],"each":[698,1493,2143,2805,4413,5049,5110,5543],"NGS.":[701,4624],"detailed":[703],"description":[704],"techniques":[707],"beyond":[709,3261],"scope":[711,3263],"paper;":[714],"however,":[715],"summarised":[718,5027],"Figure":[720,1079,2928,3123],"In":[722,773,1709,1761,1786,1919,2130,2383,2850,2874,3065,3595,3883,4257,4567,4748,4927,5128,5747],"t-NGS,":[723,3185],"only":[724,757,978,1008,1720,2570,2636,3021,3783,5038,5283,5401],"selected":[727,3386],"sequenced,":[729],"whereas":[730],"WES":[732,750,822,837,1069],"~30":[733,863],"000":[734,859,864],"sequenced":[737],"WGS":[740,781,838,955,1074,3315],"intergenic":[744],"regions":[745,1734,4787,4801],"sequenced.":[747],"However,":[748,1500,1814,2118,3268,3834,4056,4168,4415,5191,5239],"WGS,":[752,819,3225,3255],"coding":[754,868,1012],"sequences":[755,1810],"subset":[759],"analysed,":[763,4466],"what":[764,3543,5497,5554],"frequently":[766,1664,5194],"referred":[767],"\u2018virtual":[771],"panel\u2019.":[772],"addition,":[774,1762],"coverage":[775,975,984,1014,4809,4891,5069,5072,5464,5654],"best":[779,1513,5369],"DNA":[784,924,2222,4496,4507,4520,4664,5334,5619],"amplification":[785,905,910,920,2037],"step":[786,921],"required.":[788],"Large":[789],"duplications":[790],"deletions,":[792],"involving":[793],"more":[796,806,947,962,1393,1780,1958,2895,4061,4170,4175],"genes,":[798,1257,1693,1841,2020,2453,2679,5657],"known":[799,867,876,2122,2688,3288,3686,3713,4789,4857,4973,5560,5690],"copy":[801,1061],"variants":[803,1129,1233,1274,1306,1373,1394,1396,1595,1599,1792,1828,1966,2408,3091,3099,3201,3559,3562,3579,3633,3643,3668,3687,3695,3736,3755,3815,3896,3989,4029,4039,4080,4104,4135,4171,4308,4343,4683,4752,4841,4859,4870,4906,4912,5082,5212,5222,5278,5361,5489,5511,5639,5671,5737,5753],"(CNVs),":[804],"difficult":[807,1781,2474,2562,4062,4106],"identify,":[809],"detected":[813,3454,4862,5513],"appropriate":[815,1577,2709,3168,5729],"analysis,":[816,1873,1947,2223],"particularly":[817,1960,2310,2322,2479,2512],"resequencing.":[825],"2.":[827,3734],"Comparison":[829],"Different":[831],"Types":[832],"Next-Generation":[834],"Sequencing":[835],"t-NGS":[836,1064,1516,2050,2092,3236,3274,3308,5179,5189,5208],"Target":[839],"sequencing;":[841,1073],"size":[842,1226],"(base":[843],"pairs":[844],"[bp])":[845],"Exons":[846],"20\u2013200":[848],"intron/exon":[852,881],"boundaries":[853,882],"splice":[855,884,4840],"site":[856,4883],"mutations;":[857,885],"500":[858],"bp":[860,889,899,4846],"\u2018exome\u2019":[862],"exons":[865,913],"(~1.5%":[870],"80%\u201390%":[874],"disease-causing":[877],"mutations)":[878],"\u00d7":[887,897],"107":[888],"(coding":[893],"noncoding":[895],"space)3":[896],"109":[898],"Method":[900],"Capture":[901,916],"chosen":[903,912,3507],"exons,":[904,919],"steps":[906,3410],"fragmented":[926],"randomly,":[927],"ligation":[928],"adaptors":[930],"direct":[932,3086],"(no":[934],"capture":[935,3363],"amplification)":[937],"Advantages":[938],"Cost,":[939],"relative":[940],"ease":[941],"interpretation,":[943],"few":[944],"unsolicited":[945,1005],"findings,":[946,1006],"challenging":[948,1035,1806],"identify":[950,965,979,1881,1892,4839],"CNVs":[951,997,1773,1838,2015,3449,5269,5662],"Cost":[952],"lower":[953,3253],"than":[954,1402,2283,4065],"Entire":[956],"interrogated":[958],"including":[959,1862,1874,1935,2298,2671,4123,4900,4907,5387],"non-coding":[960,1041],"region;":[961],"potential":[963,1261,2778],"CNVs.":[966,1021,4908],"Can":[967],"add":[968],"virtual":[971,2052,3210,3226,3238],"panel.":[972,1708,2404,5051],"Relatively":[973],"even":[974,1245,1307],"Disadvantages":[976],"Will":[977],"mutations":[980,989,1010,2436,2523,4489,4851],"regions,":[983,1013,3197],"uneven,":[987,1017],"so":[988,4662,5379],"may":[990,1018,1438,1927,2022,2854,2879,2891,2898,2916,3085,3251,3370,3440,3451,3485,3907,4185,4297,4486,4528,4553,4578,4813,4933,5096,5290,5329,5354,5383,5425,5754],"missed.":[992],"Harder":[993],"detect":[995,1020,1783,1837,4896,4924],"Interpretation":[998,1034],"challenging,":[1001],"high":[1002,1745,2545,3037],"chance":[1003],"find":[1009,4488],"Ethical":[1022,1047,4337],"issues":[1023,1048,4070,4340],"incidental":[1025,1050,3771,4450],"findings":[1026,1051,3772,4451],"predispose":[1030,1055],"serious":[1032,1057],"illness":[1033],"unless":[1036,2365,3899,4981],"trio,":[1040],"region":[1042,4875],"cannot":[1043,3854],"easily":[1044],"interpreted.":[1046],"illnessCost":[1058],"CNV":[1059,3351],"variant;":[1063],"panels;":[1068],"sequencing.":[1078,4807],"1.:":[1080],"(A)":[1081],"Cartoon":[1082],"creating":[1087],"an":[1088,2402,3598,3620,4597,4649,5085,5728,5934,6080],"report":[1090,3155,3428,3542,3592,3608,3663,3908,3934,4712,5057,5059,5249,5317,5420,5432,5484,5584,5704,6015],"arrival":[1092],"sample":[1094,3111,4521,4639,5310,5339],"laboratory.":[1097,5015],"(Usually":[1098],"includes":[1099,1134,1176,3951,4114,5254,5508],"scientists":[1101,3615],"clinicians.)":[1103],"(B)":[1104],"American":[1105,1293],"College":[1106,1294],"Medical":[1108,1296],"variant":[1110,1311,1321,2772,3146,3601,3842,3859,4089,4100,4144,4196,4586,5113,5201,5257,5397,5424],"classification,":[1111],"examples":[1113,2931],"further":[1115,2317,3127,3810,4558,5443],"studies":[1116,1136,3852,3928,3969,5382],"carried":[1120,2669,2987,3182,3576,4994,5008,5385],"out":[1121,2111,2237,2988,3183,3191,4637,4658,4995,5009],"determine":[1123,1285,1369,3377],"pathogenicity":[1125,1370,3630,3864,3943,4120,4720,4722,4740,5119,5358],"class":[1127,5751],"3":[1128,1401,5752],"uncertain":[1131,3986,4548],"significance.":[1132],"family":[1135,2258,3136,3851,3968,4482,4576,5376,5381],"investigate":[1138],"segregation,":[1139],"well":[1141,2948,5854],"functional":[1143,1178,2995,3801,3849,3901,3976,4758,5352,5628],"assays":[1144,1179,2025,2468],"such":[1145,1793,2231,2374,2465,2764,3464,4071],"activities,":[1150],"EMA":[1151,1192,1207,3473],"dye":[1152,1193,3474],"binding":[1153,3475,4882],"spherocytosis,":[1156],"osmotic":[1158,2376,2380,2839,3477],"gradient":[1159,2377,2840,3478],"ektacytometry":[1160,2378,3479],"(Osmoscan),":[1161],"investigates":[1163],"deformability":[1166],"disorders.":[1169],"list":[1171,2041,2103,2108,2152],"exhaustive":[1174],"(eg,":[1180,3135,3420,3445,3709,3773,4245,4600,4876,4947,5139,5264,5693],"electron":[1181],"microscopy":[1182],"CDA,":[1184,1650,2721],"ribosomal":[1185],"profiling,":[1186],"northern":[1188],"blots":[1189],"DBA);":[1191],"binding.":[1194],"anaemias;":[1199],"Ekta":[1204],"ektacytometry;":[1206],"eosin-5\u2019-maleimide;":[1209],"MDT":[1210,3621],"multidisciplinary":[1212,3571],"team;":[1213],"sequencing.It":[1217],"important":[1219,1571,2323,3162,4045],"note":[1221],"that,":[1222],"depending":[1223,1755,2003,2680,5098,5552],"panel,":[1229,4461,5551],"always":[1235,1667,2499,4273],"identified":[1237,1275,1323,1600,3092,3565,3818,3959,4187,5399],"after":[1238,1308],"filters":[1242],"applied,":[1244],"normal":[1247],"individuals.":[1248],"depend":[1252,1491,2803,3389,4407,4454],"inherent":[1259],"polymorphic":[1260],"gene":[1264,1673,1856,1886,1965,2526,2658,2700,3292,3337,3714,3980,4457,5407],"ethnic":[1267,5102],"origin":[1268],"individual":[1271,2677,4124,4811,5050,5221,5360],"tested.":[1272],"All":[1273,4784,4854,5915,6012],"post-filtering":[1276],"assessed":[1280,1980,4122,5234,5548,5640],"against":[1281,4253,4686,5641,5672],"strict":[1282],"their":[1286,1382,1982,3358,5834,5860],"pathogenicity,":[1287,3569],"guidelines":[1291,1330,1355,1377,3625,4730,5831,6069,6090],"(ACMG).7":[1298],"pathogenic":[1310,1766,3600,3640,3667,3678,3746,3914,4143,4911,4976,5131,5396,5423,5488,5510],"found,":[1314],"help":[1316,4561],"interpretation":[1318,1358],"again":[1324],"future.":[1327],"Excellent":[1328],"comprehensive":[1329],"exist":[1331],"preparation":[1334],"samples":[1336,4559,4665,5373],"control":[1340,4516,5053]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":7}],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2022-06-13T00:00:00"}