{"id":"https://openalex.org/W16620579","doi":"https://doi.org/10.1182/blood.v90.1.105","title":"Phenotypic Consequences of Mutations in the Fanconi Anemia FAC Gene: An International Fanconi Anemia Registry Study","display_name":"Phenotypic Consequences of Mutations in the Fanconi Anemia FAC Gene: An International Fanconi Anemia Registry Study","publication_year":1997,"publication_date":"1997-07-01","ids":{"openalex":"https://openalex.org/W16620579","doi":"https://doi.org/10.1182/blood.v90.1.105","mag":"16620579","pmid":"https://pubmed.ncbi.nlm.nih.gov/9207444"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v90.1.105","doi":"https://doi.org/10.1182/blood.v90.1.105","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v90.1.105","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","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/A5027095419","display_name":"Alfred P. Gillio","orcid":"https://orcid.org/0000-0001-8391-3101","observed_orcids":["https://orcid.org/0000-0001-8391-3101"]},"institutions":[{"id":"https://openalex.org/I1324520350","display_name":"Hackensack University Medical Center","ror":"https://ror.org/008zj0x80","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1324520350"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alfred P. Gillio","raw_affiliation_strings":["From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I1324520350","https://openalex.org/I205783295","https://openalex.org/I83399316"]},{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","institution_ids":["https://openalex.org/I83399316"]},{"raw_affiliation_string":"the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I205783295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109169086","display_name":"Peter C. Verlander","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1324520350","display_name":"Hackensack University Medical Center","ror":"https://ror.org/008zj0x80","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1324520350"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter C. Verlander","raw_affiliation_strings":["From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I1324520350","https://openalex.org/I205783295","https://openalex.org/I83399316"]},{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","institution_ids":["https://openalex.org/I83399316"]},{"raw_affiliation_string":"the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I205783295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016265536","display_name":"Sat Dev Batish","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1324520350","display_name":"Hackensack University Medical Center","ror":"https://ror.org/008zj0x80","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1324520350"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S.D. Batish","raw_affiliation_strings":["From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I1324520350","https://openalex.org/I205783295","https://openalex.org/I83399316"]},{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","institution_ids":["https://openalex.org/I83399316"]},{"raw_affiliation_string":"the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I205783295"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012494390","display_name":"Philip F. Giampietro","orcid":"https://orcid.org/0000-0003-2874-8064","observed_orcids":["https://orcid.org/0000-0003-2874-8064","https://orcid.org/0000-0001-5151-6152"]},"institutions":[{"id":"https://openalex.org/I1324520350","display_name":"Hackensack University Medical Center","ror":"https://ror.org/008zj0x80","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1324520350"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P.F. Giampietro","raw_affiliation_strings":["From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I1324520350","https://openalex.org/I205783295","https://openalex.org/I83399316"]},{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","institution_ids":["https://openalex.org/I83399316"]},{"raw_affiliation_string":"the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I205783295"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065995811","display_name":"Arleen D. Auerbach","orcid":"https://orcid.org/0000-0002-6911-8379","observed_orcids":["https://orcid.org/0000-0002-6911-8379"]},"institutions":[{"id":"https://openalex.org/I1324520350","display_name":"Hackensack University Medical Center","ror":"https://ror.org/008zj0x80","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1324520350"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I83399316","display_name":"Rockefeller University","ror":"https://ror.org/0420db125","country_code":"US","type":"education","lineage":["https://openalex.org/I83399316"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Arleen D. Auerbach","raw_affiliation_strings":["From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY; the Department of Pediatric Hematology-Oncology, Tomorrow's Children Institute, Hackensack University Medical Center, NJ; and the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I1324520350","https://openalex.org/I205783295","https://openalex.org/I83399316"]},{"raw_affiliation_string":"From the Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY","institution_ids":["https://openalex.org/I83399316"]},{"raw_affiliation_string":"the Division of Human Genetics, New York Hospital-Cornell University Medical College, NY","institution_ids":["https://openalex.org/I205783295"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.9631,"has_fulltext":false,"cited_by_count":127,"citation_normalized_percentile":{"value":0.91852975,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"90","issue":"1","first_page":"105","last_page":"110"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.8618000149726868,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10123","display_name":"DNA Repair Mechanisms","score":0.8618000149726868,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12919","display_name":"Blood disorders and treatments","score":0.09080000221729279,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.004999999888241291,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/fanconi-anemia","display_name":"Fanconi anemia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/fancc","display_name":"FANCC","score":0.6859999895095825},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7749999761581421},{"id":"https://openalex.org/keywords/acute-myeloid-leukemia","display_name":"acute myeloid leukemia","score":0.8100000023841858},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.4779999852180481},{"id":"https://openalex.org/keywords/hematologic-abnormalities","display_name":"hematological abnormalities","score":0.8080000281333923}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.8265718221664429},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5744495391845703},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5711817741394043},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.48614785075187683},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48043036460876465},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.4768691956996918},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4584557116031647},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.44304099678993225},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.4429134428501129},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.33141446113586426},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.31948456168174744},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24054092168807983},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.20674419403076172},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.08008673787117004},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1182/blood.v90.1.105","doi":"https://doi.org/10.1182/blood.v90.1.105","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v90.1.105","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"doi:10.1182/blood.v90.1.105.105_105_110","doi":"https://doi.org/10.1182/blood.v90.1.105.105_105_110","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v90.1.105.105_105_110","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:9207444","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9207444","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":"Blood","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":0.9922999739646912}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/1","display_name":"No poverty","score":0.699999988079071}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1397412543","display_name":"GENERAL CLINICAL RESEARCH CENTER","funder_award_id":"2m01rr000102-41","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3460795981","display_name":null,"funder_award_id":"HL-32987","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G367656647","display_name":null,"funder_award_id":"RR00102","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W86972051","https://openalex.org/W127564532","https://openalex.org/W164238282","https://openalex.org/W1483859990","https://openalex.org/W1487260701","https://openalex.org/W1496574262","https://openalex.org/W1549538719","https://openalex.org/W1559871785","https://openalex.org/W1562232013","https://openalex.org/W1583606054","https://openalex.org/W1601895528","https://openalex.org/W1711427337","https://openalex.org/W1979300931","https://openalex.org/W1996719010","https://openalex.org/W1997104526","https://openalex.org/W1999244681","https://openalex.org/W2006741975","https://openalex.org/W2033310811","https://openalex.org/W2054965243","https://openalex.org/W2065417936","https://openalex.org/W2067650156","https://openalex.org/W2074499201","https://openalex.org/W2082172922","https://openalex.org/W2086567214","https://openalex.org/W2087512282","https://openalex.org/W2097442971","https://openalex.org/W2112473094","https://openalex.org/W2139984188","https://openalex.org/W2156476071","https://openalex.org/W2237812909","https://openalex.org/W2401017124","https://openalex.org/W3117462546","https://openalex.org/W4293241248","https://openalex.org/W4302183079","https://openalex.org/W4302212409","https://openalex.org/W6629023626"],"related_works":["https://openalex.org/W2097990135","https://openalex.org/W7162733624","https://openalex.org/W3048382435","https://openalex.org/W2084194591","https://openalex.org/W1601895528","https://openalex.org/W2976125747","https://openalex.org/W86972051","https://openalex.org/W7096505029","https://openalex.org/W2528621901","https://openalex.org/W2522789989"],"abstract_inverted_index":{"Fanconi":[0,88],"anemia":[1],"(FA)":[2],"is":[3],"a":[4,35,112,282],"genetically":[5],"and":[6,145,158,191,199,222,274],"phenotypically":[7],"heterogeneous":[8,266],"disorder":[9,267],"defined":[10],"by":[11],"cellular":[12,214],"hypersensitivity":[13,215],"to":[14,65,195,200,216,262,269],"DNA":[15],"cross-linking":[16],"agents;":[17],"mutations":[18,50,175],"in":[19,23,34,51,81,251],"the":[20,32,45,52,56,76,86,96,116,124,201,211,217,229,247,254],"gene":[21,78],"defective":[22],"FA":[24,83,98,285],"complementation":[25],"group":[26],"C,":[27],"FAC,":[28],"are":[29,182],"responsible":[30],"for":[31,281],"syndrome":[33],"subset":[36,283],"of":[37,44,48,75,95,111,188,213,220,224,228,240,249,253,284],"patients.":[38,257,286],"We":[39],"have":[40,234,243],"performed":[41],"an":[42],"analysis":[43,114,168],"clinical":[46,225,272],"effects":[47],"specific":[49],"FAC":[53,68,77],"gene.":[54],"Using":[55],"amplification":[57],"refractory":[58],"mutation":[59,126,138,154,163],"system":[60],"assays":[61],"that":[62,170],"we":[63],"developed":[64,235],"rapidly":[66],"detect":[67],"mutations,":[69],"at":[70,133,149],"least":[71,134,150],"one":[72,135,151],"mutated":[73],"copy":[74],"was":[79,206,246],"identified":[80],"59":[82,230],"patients":[84,99,102,122,131,147,198,232,242],"from":[85],"International":[87],"Anemia":[89],"Registry":[90],"(IFAR).":[91],"This":[92,258],"represents":[93],"15%":[94],"397":[97],"tested.":[100],"FA-C":[101,231,256],"were":[103],"divided":[104],"into":[105],"three":[106],"subgroups":[107],"based":[108],"on":[109],"results":[110],"genotype-phenotype":[113],"using":[115],"Cox":[117],"proportional":[118],"hazards":[119],"model:":[120],"(1)":[121],"with":[123,132,148,184],"IVS4":[125,171],"(n":[127,142,164],"=":[128,143,165],"26);":[129],"(2)":[130],"exon":[136,152,161,173,196],"14":[137,162,174],"(R548X":[139],"or":[140,156,172],"L554P)":[141],"16);":[144],"(3)":[146],"1":[153,197],"(322delG":[155],"Q13X)":[157],"no":[159,207],"known":[160],"17).":[166],"Kaplan-Meier":[167],"shows":[169],"define":[176,263],"poor":[177],"risk":[178],"subgroups,":[179],"as":[180],"they":[181],"associated":[183],"significantly":[185],"earlier":[186],"onset":[187],"hematologic":[189],"abnormalities":[190],"poorer":[192],"survival":[193],"compared":[194],"non-FA-C":[202],"IFAR":[203],"population.":[204],"There":[205],"direct":[208],"correlation":[209],"between":[210],"degree":[212],"clastogenic":[218],"effect":[219],"diepoxybutane":[221],"severity":[223],"phenotype.":[226],"Sixteen":[227],"(27%)":[233],"acute":[236],"myelogenous":[237],"leukemia.":[238],"Thirteen":[239],"these":[241],"died;":[244],"AML":[245],"cause":[248],"death":[250],"46%":[252],"expired":[255],"study":[259],"enables":[260],"us":[261],"this":[264],"clinically":[265],"genotypically":[268],"better":[270],"predict":[271],"outcome":[273],"aid":[275],"decision-making":[276],"regarding":[277],"major":[278],"therapeutic":[279],"modalities":[280]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2},{"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"}
