{"id":"https://openalex.org/W2013446391","doi":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","title":"Congenital bone marrow failure syndromes","display_name":"Congenital bone marrow failure syndromes","publication_year":2000,"publication_date":"2000-10-01","ids":{"openalex":"https://openalex.org/W2013446391","doi":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","mag":"2013446391","pmid":"https://pubmed.ncbi.nlm.nih.gov/11091180"},"language":"en","primary_location":{"id":"doi:10.1046/j.1365-2141.2000.02263.x","doi":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062784258","display_name":"Colin A. Sieff","orcid":"https://orcid.org/0000-0003-3387-6415","observed_orcids":["https://orcid.org/0000-0003-3387-6415"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]},{"id":"https://openalex.org/I4210166317","display_name":"Dana-Farber/Boston Children's Cancer and Blood Disorders Center","ror":"https://ror.org/05k11pb55","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113","https://openalex.org/I4210117453","https://openalex.org/I4210166317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Colin A. Sieff","raw_affiliation_strings":["Division of Paediatric Hematology and Oncology, Dana-Farber Cancer Institute, Children's Hospital, Boston 02115, USA. colin_sieff@dfci.harvard.edu","Division of Paediatric \u2028Hematology and Oncology,\u2028"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric Hematology and Oncology, Dana-Farber Cancer Institute, Children's Hospital, Boston 02115, USA. colin_sieff@dfci.harvard.edu","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I4210117453","https://openalex.org/I4210166317"]},{"raw_affiliation_string":"Division of Paediatric \u2028Hematology and Oncology,\u2028","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078761568","display_name":"Eric Nisbet\u2010Brown","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eric Nisbet-Brown","raw_affiliation_strings":["Division of Paediatric \u2028Hematology and Oncology,\u2028"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Paediatric \u2028Hematology and Oncology,\u2028","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112135585","display_name":"DG Nathan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David G. Nathan","raw_affiliation_strings":["Dana-Farber Cancer Institute, Children's Hospital, and Department of Paediatrics, Harvard Medical School, Boston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana-Farber Cancer Institute, Children's Hospital, and Department of Paediatrics, Harvard Medical School, Boston, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5190,"currency":"USD","value_usd":5190},"apc_paid":null,"fwci":0.2337,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.22666667,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"111","issue":"1","first_page":"30","last_page":"42"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.989300012588501,"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"}},"topics":[{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.989300012588501,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.004999999888241291,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10345","display_name":"Hematopoietic Stem Cell Transplantation","score":0.002300000051036477,"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/myelodysplastic-syndrome","display_name":"myelodysplastic syndrome","score":0.8320000171661377},{"id":"https://openalex.org/keywords/fanconi-anemia","display_name":"Fanconi anemia","score":0.8209999799728394},{"id":"https://openalex.org/keywords/dyskeratosis-congenita","display_name":"dyskeratosis congenita","score":0.8399999737739563},{"id":"https://openalex.org/keywords/shwachman-diamond-syndrome","display_name":"Shwachman-Diamond syndrome","score":0.8619999885559082},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.597000002861023},{"id":"https://openalex.org/keywords/bone-marrow-failure","display_name":"bone marrow failure","score":0.4620000123977661}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6488536596298218},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.6030550599098206},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.594992995262146},{"id":"https://openalex.org/C2909801294","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone Marrow Diseases","level":3,"score":0.4881325662136078},{"id":"https://openalex.org/C2994180119","wikidata":"https://www.wikidata.org/wiki/Q1128050","display_name":"Bone marrow transplantation","level":3,"score":0.41196033358573914},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3070259690284729},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.17810553312301636},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10194113850593567},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.07510772347450256},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000756","descriptor_name":"Anemia, Sideroblastic","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D000756","descriptor_name":"Anemia, Sideroblastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001855","descriptor_name":"Bone Marrow Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D001855","descriptor_name":"Bone Marrow Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001855","descriptor_name":"Bone Marrow Diseases","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D010182","descriptor_name":"Pancreatic Diseases","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D010182","descriptor_name":"Pancreatic Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019871","descriptor_name":"Dyskeratosis Congenita","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1046/j.1365-2141.2000.02263.x","doi":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1365-2141.2000.02263.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"doi:10.1111/j.1365-2141.2000.02263.x","doi":"https://doi.org/10.1111/j.1365-2141.2000.02263.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2141.2000.02263.x","pdf_url":null,"source":{"id":"https://openalex.org/S153015021","display_name":"British Journal of Haematology","issn_l":"0007-1048","issn":["0007-1048","1365-2141"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Haematology","raw_type":"journal-article"},{"id":"pmid:11091180","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11091180","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":"British journal of haematology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/2","display_name":"Zero hunger","score":0.4099999964237213}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":152,"referenced_works":["https://openalex.org/W31973432","https://openalex.org/W51791417","https://openalex.org/W80850850","https://openalex.org/W127564532","https://openalex.org/W176393589","https://openalex.org/W176564998","https://openalex.org/W199916548","https://openalex.org/W235677381","https://openalex.org/W243546123","https://openalex.org/W297316515","https://openalex.org/W298649660","https://openalex.org/W310617275","https://openalex.org/W561506858","https://openalex.org/W1483859990","https://openalex.org/W1495571943","https://openalex.org/W1507388169","https://openalex.org/W1514932744","https://openalex.org/W1517751361","https://openalex.org/W1518699080","https://openalex.org/W1521601785","https://openalex.org/W1525631450","https://openalex.org/W1541725266","https://openalex.org/W1549100097","https://openalex.org/W1553029586","https://openalex.org/W1553668917","https://openalex.org/W1590382483","https://openalex.org/W1601895528","https://openalex.org/W1608124574","https://openalex.org/W1608563261","https://openalex.org/W1650721121","https://openalex.org/W1752766917","https://openalex.org/W1788745063","https://openalex.org/W1927581912","https://openalex.org/W1963501775","https://openalex.org/W1963536798","https://openalex.org/W1965721553","https://openalex.org/W1966582145","https://openalex.org/W1972346929","https://openalex.org/W1973727425","https://openalex.org/W1979169364","https://openalex.org/W1983613432","https://openalex.org/W1985898872","https://openalex.org/W1988676653","https://openalex.org/W1992115026","https://openalex.org/W1992567175","https://openalex.org/W1992951293","https://openalex.org/W1993026521","https://openalex.org/W1993808141","https://openalex.org/W1996499049","https://openalex.org/W1997104526","https://openalex.org/W1999725652","https://openalex.org/W2002122727","https://openalex.org/W2007510125","https://openalex.org/W2009664834","https://openalex.org/W2010641059","https://openalex.org/W2014237818","https://openalex.org/W2019039833","https://openalex.org/W2020155382","https://openalex.org/W2020747171","https://openalex.org/W2021061167","https://openalex.org/W2021540083","https://openalex.org/W2022682937","https://openalex.org/W2024282269","https://openalex.org/W2027856808","https://openalex.org/W2029491803","https://openalex.org/W2032628875","https://openalex.org/W2034668175","https://openalex.org/W2034677862","https://openalex.org/W2036503229","https://openalex.org/W2037350726","https://openalex.org/W2038131360","https://openalex.org/W2039345216","https://openalex.org/W2044329004","https://openalex.org/W2044758458","https://openalex.org/W2048949968","https://openalex.org/W2055856192","https://openalex.org/W2061646069","https://openalex.org/W2064566037","https://openalex.org/W2065417936","https://openalex.org/W2065506090","https://openalex.org/W2069209063","https://openalex.org/W2075765271","https://openalex.org/W2076473351","https://openalex.org/W2076593817","https://openalex.org/W2082172922","https://openalex.org/W2083121277","https://openalex.org/W2087247175","https://openalex.org/W2088379935","https://openalex.org/W2088605578","https://openalex.org/W2091555842","https://openalex.org/W2092576086","https://openalex.org/W2101574511","https://openalex.org/W2102677296","https://openalex.org/W2106860203","https://openalex.org/W2110542977","https://openalex.org/W2118008377","https://openalex.org/W2127403065","https://openalex.org/W2133442371","https://openalex.org/W2135678432","https://openalex.org/W2139360111","https://openalex.org/W2144651412","https://openalex.org/W2145582626","https://openalex.org/W2147140533","https://openalex.org/W2154393492","https://openalex.org/W2154476554","https://openalex.org/W2155219249","https://openalex.org/W2156375180","https://openalex.org/W2167356244","https://openalex.org/W2253940800","https://openalex.org/W2259813718","https://openalex.org/W2264057435","https://openalex.org/W2268635172","https://openalex.org/W2283135299","https://openalex.org/W2309121447","https://openalex.org/W2315323207","https://openalex.org/W2326136512","https://openalex.org/W2332875841","https://openalex.org/W2338755716","https://openalex.org/W2339540275","https://openalex.org/W2345046476","https://openalex.org/W2387074628","https://openalex.org/W2395350998","https://openalex.org/W2395957390","https://openalex.org/W2399040425","https://openalex.org/W2403066481","https://openalex.org/W2407223750","https://openalex.org/W2408418092","https://openalex.org/W2409158391","https://openalex.org/W2413849551","https://openalex.org/W2417522554","https://openalex.org/W2418642050","https://openalex.org/W2421932102","https://openalex.org/W2429972283","https://openalex.org/W2464077395","https://openalex.org/W2465013747","https://openalex.org/W2465174048","https://openalex.org/W2472680894","https://openalex.org/W2473619089","https://openalex.org/W2474754797","https://openalex.org/W2564590762","https://openalex.org/W2918093937","https://openalex.org/W4205098299","https://openalex.org/W4229833143","https://openalex.org/W4235019056","https://openalex.org/W4242126543","https://openalex.org/W4250964040","https://openalex.org/W4253276331","https://openalex.org/W4254102844","https://openalex.org/W4255635114","https://openalex.org/W4302183079","https://openalex.org/W4302212409","https://openalex.org/W4313063123"],"related_works":["https://openalex.org/W2416407332","https://openalex.org/W7167847092","https://openalex.org/W2412545059","https://openalex.org/W2036639009","https://openalex.org/W2416905252","https://openalex.org/W2050090147","https://openalex.org/W7160046759","https://openalex.org/W3161841596","https://openalex.org/W4229662130","https://openalex.org/W4223472424"],"abstract_inverted_index":null,"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}