{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:09:26Z","timestamp":1787314166163,"version":"build-2736575974"},"reference-count":57,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein\u2010altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child\u2013parent trios, one child\u2013mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA. We performed (1) a trio\u2010based analysis to identify rare\n                    <jats:italic>de novo<\/jats:italic>\n                    , homozygous, and compound heterozygous PAVs and (2) a case\u2013control analysis using a sequence kernel\u2010based association test to identify genes enriched with rare PAVs. While we replicated previous findings on\n                    <jats:italic>PKD1L1<\/jats:italic>\n                    , our results do not suggest that recurrent\n                    <jats:italic>de novo<\/jats:italic>\n                    PAVs play important roles in BA susceptibility. In fact, our finding in\n                    <jats:italic>NOTCH2<\/jats:italic>\n                    , a disease gene associated with Alagille syndrome, highlights the difficulty in BA diagnosis. Notably,\n                    <jats:italic>IFRD2<\/jats:italic>\n                    has been implicated in other gastrointestinal conditions and warrants additional study. Overall, our findings strengthen the hypothesis that the etiology of BA is complex.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63185","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T06:39:10Z","timestamp":1679380750000},"page":"1546-1556","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Exome\u2010wide assessment of isolated biliary atresia: A report from the\n                    <scp>National Birth Defects Prevention Study<\/scp>\n                    using child\u2013parent trios and a case\u2013control design to identify novel rare variants"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8210-4580","authenticated-orcid":false,"given":"Pagna","family":"Sok","sequence":"first","affiliation":[{"name":"Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9667-8072","authenticated-orcid":false,"given":"Aniko","family":"Sabo","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4399-807X","authenticated-orcid":false,"given":"Lynn M.","family":"Almli","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4399-1348","authenticated-orcid":false,"given":"Mary M.","family":"Jenkins","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-4049","authenticated-orcid":false,"given":"Wendy N.","family":"Nembhard","sequence":"additional","affiliation":[{"name":"Fay W. Boozman College of Public Health University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. 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