{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:51:38Z","timestamp":1791204698460,"version":"4.2.0"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T00:00:00Z","timestamp":1707264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T00:00:00Z","timestamp":1707264000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aim<\/jats:title>\n                    <jats:p>Advances in molecular genetics have uncovered causative genes responsible for neonatal cholestasis. Panel\u2010based next\u2010generation sequencing has been used clinically in infants with neonatal cholestasis. We aimed to evaluate the clinical application of single\u2010gene testing and next\u2010generation sequencing and to develop a diagnostic algorithm for neonatal intrahepatic cholestasis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>From January 2010 to July 2021, patients suspected of having neonatal intrahepatic cholestasis were tested at the Seoul National University Hospital. If there was a clinically suspected disease, single\u2010gene testing was performed. Alternatively, if it was clinically difficult to differentiate, a neonatal cholestasis gene panel test containing 34 genes was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of the total 148 patients examined, 49 (33.1%) were received a confirmed genetic diagnosis, including 14 with Alagille syndrome, 14 with neonatal intrahepatic cholestasis caused by citrin deficiency, 7 with Dubin\u2013Johnson syndrome, 5 with arthrogryposis\u2010renal dysfunction\u2010cholestasis syndrome, 5 with progressive familial intrahepatic cholestasis type II, 1 with Rotor syndrome, 1 with Niemann\u2010Pick disease type C, 1 with Kabuki syndrome, and 1 with Phenylalanyl\u2010tRNA synthetase subunit alpha mutation. Sixteen novel pathogenic or likely pathogenic variants of neonatal cholestasis were observed in this study. Based on the clinical characteristics and laboratory findings, we developed a diagnostic algorithm for neonatal intrahepatic cholestasis by integrating single\u2010gene testing and next\u2010generation sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Alagille syndrome and neonatal intrahepatic cholestasis caused by citrin deficiency were the most common diseases associated with genetic neonatal cholestasis. Single\u2010gene testing and next\u2010generation sequencing are important and complementary tools for the diagnosis of genetic neonatal cholestasis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jgh.16505","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T05:58:07Z","timestamp":1707285487000},"page":"964-974","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single\u2010gene testing and next\u2010generation sequencing in East Asia"],"prefix":"10.1111","volume":"39","author":[{"given":"Jong Woo","family":"Hahn","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine  Seoul Korea"},{"name":"Department of Pediatrics Seoul National University Bundang Hospital  Seongnam 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