{"id":"https://openalex.org/W4231102570","doi":"https://doi.org/10.3410/f.1032805.374900","title":"Faculty Opinions recommendation of Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.","display_name":"Faculty Opinions recommendation of Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.","publication_year":2006,"publication_date":"2006-06-19","ids":{"openalex":"https://openalex.org/W4231102570","doi":"https://doi.org/10.3410/f.1032805.374900"},"language":"en","primary_location":{"id":"doi:10.3410/f.1032805.374900","doi":"https://doi.org/10.3410/f.1032805.374900","is_oa":false,"landing_page_url":"https://doi.org/10.3410/f.1032805.374900","pdf_url":null,"source":{"id":"https://openalex.org/S4363604054","display_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","raw_type":"dataset"},"volume":null,"type":"peer-review","indexed_in":["crossref"],"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/A5000317216","display_name":"Alejandro A. Sch\u00e4ffer","orcid":"https://orcid.org/0000-0002-2147-8033","observed_orcids":["https://orcid.org/0000-0002-2147-8033"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Alejandro Schaffer","raw_affiliation_strings":["Cancer Data Science Laboratory (CDSL),, National Cancer Institute (NCI), USA"],"raw_orcid":"https://orcid.org/0000-0002-2147-8033","affiliations":[{"raw_affiliation_string":"Cancer Data Science Laboratory (CDSL),, National Cancer Institute (NCI), USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5000317216"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"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"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":9.999999747378752e-05,"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/T12172","display_name":"Neutropenia and Cancer Infections","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/congenital-neutropenia","display_name":"congenital neutropenia","score":0.8539999723434448},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9850000143051147},{"id":"https://openalex.org/keywords/neutrophil-elastase","display_name":"neutrophil elastase","score":0.6940000057220459}],"concepts":[{"id":"https://openalex.org/C2908751872","wikidata":"https://www.wikidata.org/wiki/Q1337441","display_name":"Congenital Neutropenia","level":4,"score":0.8181838989257812},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.5757985711097717},{"id":"https://openalex.org/C2777063308","wikidata":"https://www.wikidata.org/wiki/Q1435822","display_name":"Neutropenia","level":3,"score":0.5239512920379639},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4779469966888428},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3861583471298218},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35127806663513184},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10417592525482178},{"id":"https://openalex.org/C2776694085","wikidata":"https://www.wikidata.org/wiki/Q974135","display_name":"Chemotherapy","level":2,"score":0.0737236738204956}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3410/f.1032805.374900","doi":"https://doi.org/10.3410/f.1032805.374900","is_oa":false,"landing_page_url":"https://doi.org/10.3410/f.1032805.374900","pdf_url":null,"source":{"id":"https://openalex.org/S4363604054","display_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Faculty Opinions \u2013 Post-Publication Peer Review of the Biomedical Literature","raw_type":"dataset"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1990984558","https://openalex.org/W2167469807","https://openalex.org/W2585707805","https://openalex.org/W4255781038","https://openalex.org/W2947593840","https://openalex.org/W2182186846","https://openalex.org/W4234975750","https://openalex.org/W1981054210","https://openalex.org/W2082658786","https://openalex.org/W7100944829"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2022-05-11T00:00:00"}