{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T10:16:18Z","timestamp":1756894578197},"reference-count":15,"publisher":"Hindawi Limited","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"NIH","award":["R01 HL120922","#UL1 TR000043"],"award-info":[{"award-number":["R01 HL120922","#UL1 TR000043"]}]},{"name":"Intramural Research Program of the National Human Genome Research Institute, NIH"},{"DOI":"10.13039\/100001447","name":"Rita Allen Foundation (AS)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001447","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Starr Cancer Consortium (AS)"},{"name":"Vilcek Foundation (ADA)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1002\/humu.22962","type":"journal-article","created":{"date-parts":[[2016,2,3]],"date-time":"2016-02-03T17:21:10Z","timestamp":1454520070000},"page":"465-468","source":"Crossref","is-referenced-by-count":7,"title":["Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia"],"prefix":"10.1155","volume":"37","author":[{"given":"Frank X.","family":"Donovan","sequence":"first","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle C.","family":"Kimble","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Maintenance; The Rockefeller University; New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis P.","family":"Lach","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Maintenance; The Rockefeller University; New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ursula","family":"Harper","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparna","family":"Kamat","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MaryPat","family":"Jones","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica M.","family":"Sanborn","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Maintenance; The Rockefeller University; New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Tryon","sequence":"additional","affiliation":[{"name":"Blood and Marrow Transplant Program; Department of Pediatrics; University of Minnesota; Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John E.","family":"Wagner","sequence":"additional","affiliation":[{"name":"Blood and Marrow Transplant Program; Department of Pediatrics; University of Minnesota; Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret L.","family":"MacMillan","sequence":"additional","affiliation":[{"name":"Blood and Marrow Transplant Program; Department of Pediatrics; University of Minnesota; Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine A.","family":"Ostrander","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arleen D.","family":"Auerbach","sequence":"additional","affiliation":[{"name":"Human Genetics and Hematology Program; The Rockefeller University; New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Smogorzewska","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Maintenance; The Rockefeller University; New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Settara C.","family":"Chandrasekharappa","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2016,2,23]]},"reference":[{"key":"10.1002\/humu.22962-BIB0001|humu22962-cit-0001","doi-asserted-by":"crossref","first-page":"3125","DOI":"10.1093\/hmg\/11.25.3125","article-title":"Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants","volume":"11","author":"Adachi","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22962-BIB0002|humu22962-cit-0002","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ymgme.2011.11.196","article-title":"Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16","volume":"105","author":"Catarzi","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22962-BIB0003|humu22962-cit-0003","doi-asserted-by":"crossref","first-page":"e138","DOI":"10.1182\/blood-2012-12-474585","article-title":"Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia","volume":"121","author":"Chandrasekharappa","year":"2013","journal-title":"Blood"},{"key":"10.1002\/humu.22962-BIB0004|humu22962-cit-0004","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1038\/sj.ejhg.5201619","article-title":"A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements","volume":"14","author":"Engel","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22962-BIB0005|humu22962-cit-0005","first-page":"1342","article-title":"Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes","volume":"35","author":"Flynn","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22962-BIB0006|humu22962-cit-0006","first-page":"263-296","article-title":"The incidence, origin, and etiology of aneuploidy","volume":"167","author":"Griffin","year":"1996","journal-title":"Int Rev Cytol"},{"key":"10.1002\/humu.22962-BIB0007|humu22962-cit-0007","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.ajhg.2015.04.022","article-title":"Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia","volume":"96","author":"Hira","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22962-BIB0008|humu22962-cit-0008","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1016\/j.mam.2012.06.009","article-title":"The role of imprinted genes in humans","volume":"34","author":"Ishida","year":"2013","journal-title":"Mol Aspects Med"},{"key":"10.1002\/humu.22962-BIB0009|humu22962-cit-0009","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/nature11863","article-title":"Fanconi anaemia and the repair of Watson and Crick DNA crosslinks","volume":"493","author":"Kottemann","year":"2013","journal-title":"Nature"},{"key":"10.1002\/humu.22962-BIB0010|humu22962-cit-0010","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/cge.12042","article-title":"FANCA and FANCG are the major Fanconi anemia genes in the Korean population","volume":"84","author":"Park","year":"2013","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22962-BIB0011|humu22962-cit-0011","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.celrep.2015.06.014","article-title":"Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia","volume":"12","author":"Rickman","year":"2015","journal-title":"Cell Rep"},{"key":"10.1002\/humu.22962-BIB0012|humu22962-cit-0012","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/00125817-200105000-00011","article-title":"American College of Medical Genetics statement of diagnostic testing for uniparental disomy","volume":"3","author":"Shaffer","year":"2001","journal-title":"Genet Med"},{"key":"10.1002\/humu.22962-BIB0013|humu22962-cit-0013","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.molcel.2015.07.009","article-title":"A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination","volume":"59","author":"Wang","year":"2015","journal-title":"Mol Cell"},{"key":"10.1002\/humu.22962-BIB0014|humu22962-cit-0014","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.cell.2014.12.031","article-title":"SnapShot: Fanconi anemia and associated proteins","volume":"160","author":"Wang","year":"2015","journal-title":"Cell"},{"key":"10.1002\/humu.22962-BIB0015|humu22962-cit-0015","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/humu.20099","article-title":"Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population","volume":"24","author":"Yagasaki","year":"2004","journal-title":"Hum Mutat"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22962","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22962","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:10Z","timestamp":1672332850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22962"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2016,2,23]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22962","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2,23]]}}}