{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:01:46Z","timestamp":1771106506257,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012856","name":"Alberta Children's Hospital Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","award":["OGI\u2010147"],"award-info":[{"award-number":["OGI\u2010147"]}],"id":[{"id":"10.13039\/100008762","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":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a 15\u2010year\u2010old female with hypoplastic left heart syndrome and a strong family history of congenital heart defects. Quad genome sequencing was performed following negative chromosomal microarray and congenital structural heart disease gene panel testing, revealing a heterozygous 144\u2009kb deletion encompassing exons 4\u201314 of\n                    <jats:italic>RBFOX2<\/jats:italic>\n                    , the entirety of the\n                    <jats:italic>APOL5<\/jats:italic>\n                    gene, and exon 3 of\n                    <jats:italic>APOL6<\/jats:italic>\n                    in all affected family members. Although\n                    <jats:italic>RBFOX2<\/jats:italic>\n                    has been implicated in causing hypoplastic left heart syndrome in animal models, and variants in this gene are enriched in patients with congenital heart disease, this report establishes loss\u2010of\u2010function variants in\n                    <jats:italic>RBFOX2<\/jats:italic>\n                    as an autosomal dominant cause of hypoplastic left heart syndrome. Furthermore, this case highlights the power of genome sequencing in identifying causative variants in patients who have received nondiagnostic array and panel testing.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64288","type":"journal-article","created":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T09:15:08Z","timestamp":1761729308000},"page":"718-722","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genome Sequencing Identifies a Heterozygous Deletion of\n                    <scp>\n                      <i>RBFOX2<\/i>\n                    <\/scp>\n                    in a Family With Congenital Heart Disease: A Case Report"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6184-9475","authenticated-orcid":false,"given":"Francesca","family":"Jean","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Stuart","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Marcadier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"},{"name":"Department of Pediatrics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois P.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"},{"name":"Department of Pediatrics Cumming School of Medicine, University of Calgary  Calgary Alberta 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Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000189"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/NAR\/GKW177"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20102\u201023"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0735\u20101097(03)00420\u20100"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.115.304458"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.07.021"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002903"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aac9396"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010022\u201032982\u2010x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01674.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20366"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30602"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms12824"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12872\u2010023\u201003169\u2010z"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00246\u2010012\u20100208\u20109\/METRICS"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010015\u20101582\u20101"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001070"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac055"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010013\u20101353\u20109"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.02.013"}],"container-title":["American 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