{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T10:17:12Z","timestamp":1794305832299,"version":"4.9.0"},"reference-count":48,"publisher":"XMLink","issue":"36","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018688","name":"Korea Disease Control and Prevention Agency","doi-asserted-by":"publisher","award":["2021-ER0706-00"],"award-info":[{"award-number":["2021-ER0706-00"]}],"id":[{"id":"10.13039\/100018688","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018688","name":"Korea Disease Control and Prevention Agency","doi-asserted-by":"publisher","award":["2022-ER0503-00"],"award-info":[{"award-number":["2022-ER0503-00"]}],"id":[{"id":"10.13039\/100018688","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2019-NI-093-00"],"award-info":[{"award-number":["2019-NI-093-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2022-NI-060-00"],"award-info":[{"award-number":["2022-NI-060-00"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["2022-NI-060-01"],"award-info":[{"award-number":["2022-NI-060-01"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jkms.org"],"crossmark-restriction":false},"short-container-title":["J Korean Med Sci"],"DOI":"10.3346\/jkms.2024.39.e250","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T04:30:12Z","timestamp":1722832212000},"update-policy":"https:\/\/doi.org\/10.3346\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping\/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies"],"prefix":"10.3346","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1634-6623","authenticated-orcid":false,"given":"Misun","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7011-1537","authenticated-orcid":false,"given":"Jee Ah","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6406-2153","authenticated-orcid":false,"given":"Heui Seung","family":"Jo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kangwon National University Hospital, Kangwon National University School of Medicine, Chuncheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5883-8322","authenticated-orcid":false,"given":"Jong-Ho","family":"Park","sequence":"additional","affiliation":[{"name":"Clinical Genomics Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1821-3173","authenticated-orcid":false,"given":"So Yoon","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8717-6142","authenticated-orcid":false,"given":"Se In","family":"Sung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8245-4692","authenticated-orcid":false,"given":"Won Soon","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7341-2979","authenticated-orcid":false,"given":"Hye-Won","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4305-5162","authenticated-orcid":false,"given":"Jeong-Min","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9058-1704","authenticated-orcid":false,"given":"Mi-Hyun","family":"Park","sequence":"additional","affiliation":[{"name":"Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6698-7368","authenticated-orcid":false,"given":"Hyun-Young","family":"Park","sequence":"additional","affiliation":[{"name":"National Institute of Health, Cheongju, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0516-4947","authenticated-orcid":false,"given":"Ja-Hyun","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9201-2938","authenticated-orcid":false,"given":"Yun Sil","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Cell and Gene Therapy Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."},{"name":"Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18617","published-online":{"date-parts":[[2024]]},"reference":[{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref1","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00431-021-04213-w","volume":"181","author":"Marouane","year":"2022","journal-title":"Eur J Pediatr"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/bdr2.1115","volume":"110","author":"Agopian","year":"2018","journal-title":"Birth Defects Res"},{"issue":"3","key":"10.3346\/jkms.2024.39.e250_ref3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.3343\/alm.2019.39.3.299","volume":"39","author":"Jang","year":"2019","journal-title":"Ann Lab Med"},{"issue":"5","key":"10.3346\/jkms.2024.39.e250_ref4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.3346\/jkms.2024.39.e250_ref5","doi-asserted-by":"crossref","first-page":"e0253562","DOI":"10.1371\/journal.pone.0253562","volume":"16","author":"Kritioti","year":"2021","journal-title":"PLoS One"},{"issue":"12","key":"10.3346\/jkms.2024.39.e250_ref6","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1001\/jamapediatrics.2021.3496","volume":"175","author":"NICUSeq Study Group","year":"2021","journal-title":"JAMA Pediatr"},{"issue":"8","key":"10.3346\/jkms.2024.39.e250_ref7","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1007\/s00431-019-03399-4","volume":"178","author":"Elliott","year":"2019","journal-title":"Eur J Pediatr"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref8","doi-asserted-by":"crossref","first-page":"2683","DOI":"10.1007\/s00431-023-04909-1","volume":"182","author":"Olde Keizer","year":"2023","journal-title":"Eur J Pediatr"},{"issue":"11","key":"10.3346\/jkms.2024.39.e250_ref9","doi-asserted-by":"crossref","first-page":"E254","DOI":"10.1503\/cmaj.150823","volume":"188","author":"Daoud","year":"2016","journal-title":"CMAJ"},{"issue":"10","key":"10.3346\/jkms.2024.39.e250_ref10","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/s41436-018-0040-6","volume":"20","author":"Waggoner","year":"2018","journal-title":"Genet Med"},{"issue":"10","key":"10.3346\/jkms.2024.39.e250_ref11","first-page":"1673","volume":"10","author":"Jo","year":"2023","journal-title":"Children (Basel)"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref12","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41525-022-00295-z","volume":"7","author":"Austin-Tse","year":"2022","journal-title":"NPJ Genom Med"},{"issue":"5","key":"10.3346\/jkms.2024.39.e250_ref13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.3346\/jkms.2024.39.e250_ref14","unstructured":"ClinGen Working Group. ClinGen sequence variant interpretation recommendation - version 1.0. Updated 2017. Accessed March 1, 2024.  https:\/\/clinicalgenome.org\/working-groups\/sequence-variant-interpretation\/"},{"issue":"2","key":"10.3346\/jkms.2024.39.e250_ref15","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"10.3346\/jkms.2024.39.e250_ref16","doi-asserted-by":"crossref","first-page":"1140406","DOI":"10.3389\/fgene.2023.1140406","volume":"14","author":"Xiang","year":"2023","journal-title":"Front Genet"},{"issue":"10","key":"10.3346\/jkms.2024.39.e250_ref17","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41576-018-0031-0","volume":"19","author":"Kline","year":"2018","journal-title":"Nat Rev Genet"},{"issue":"2","key":"10.3346\/jkms.2024.39.e250_ref18","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1242\/dev.027193","volume":"136","author":"Storm","year":"2009","journal-title":"Development"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref19","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1101\/gad.326105","volume":"19","author":"M\u00fcller","year":"2005","journal-title":"Genes Dev"},{"key":"10.3346\/jkms.2024.39.e250_ref20","doi-asserted-by":"crossref","first-page":"e64684","DOI":"10.7554\/eLife.64684","volume":"10","author":"Lowenstein","year":"2021","journal-title":"eLife"},{"issue":"40","key":"10.3346\/jkms.2024.39.e250_ref21","doi-asserted-by":"crossref","first-page":"10124","DOI":"10.1523\/JNEUROSCI.3769-08.2008","volume":"28","author":"Liu","year":"2008","journal-title":"J Neurosci"},{"issue":"4","key":"10.3346\/jkms.2024.39.e250_ref22","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/humu.24170","volume":"42","author":"Wang","year":"2021","journal-title":"Hum Mutat"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref23","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1038\/s41436-020-0771-z","volume":"22","author":"Malinowski","year":"2020","journal-title":"Genet Med"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref24","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1146\/annurev-genom-120921-103442","volume":"23","author":"Kingsmore","year":"2022","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"4","key":"10.3346\/jkms.2024.39.e250_ref25","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/gim.2017.119","volume":"20","author":"Lionel","year":"2018","journal-title":"Genet Med"},{"issue":"7920","key":"10.3346\/jkms.2024.39.e250_ref26","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/s41586-022-04965-x","volume":"607","author":"Halldorsson","year":"2022","journal-title":"Nature"},{"issue":"11","key":"10.3346\/jkms.2024.39.e250_ref27","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","volume":"12","author":"Manning","year":"2010","journal-title":"Genet Med"},{"issue":"4","key":"10.3346\/jkms.2024.39.e250_ref28","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1542\/peds.2011-2337","volume":"129","author":"Southard","year":"2012","journal-title":"Pediatrics"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref29","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/s41525-018-0053-8","volume":"3","author":"Clark","year":"2018","journal-title":"NPJ Genom Med"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref30","doi-asserted-by":"crossref","first-page":"e24441","DOI":"10.1002\/jcla.24441","volume":"36","author":"Perovic","year":"2022","journal-title":"J Clin Lab Anal"},{"issue":"3","key":"10.3346\/jkms.2024.39.e250_ref31","doi-asserted-by":"crossref","first-page":"fcad139","DOI":"10.1093\/braincomms\/fcad139","volume":"5","author":"Kim","year":"2023","journal-title":"Brain Commun"},{"key":"10.3346\/jkms.2024.39.e250_ref32","unstructured":"Axenfeld-Rieger syndrome. Updated October 24, 2022. Accessed March 1, 2024.  https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538504\/"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-015-0458-9","volume":"17","author":"Haliburton","year":"2016","journal-title":"Neurogenetics"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref34","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/cge.14075","volume":"101","author":"Yang","year":"2022","journal-title":"Clin Genet"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref35","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13073-018-0582-x","volume":"10","author":"Normand","year":"2018","journal-title":"Genome Med"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref36","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.fmre.2022.07.003","volume":"2","author":"Dong","year":"2022","journal-title":"Fundam Res"},{"issue":"Suppl 6","key":"10.3346\/jkms.2024.39.e250_ref37","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1186\/s12911-021-01534-6","volume":"21","author":"Harrison","year":"2021","journal-title":"BMC Med Inform Decis Mak"},{"issue":"2","key":"10.3346\/jkms.2024.39.e250_ref38","doi-asserted-by":"crossref","first-page":"a023168","DOI":"10.1101\/cshperspect.a023168","volume":"6","author":"Smith","year":"2015","journal-title":"Cold Spring Harb Perspect Med"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref39","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s13073-023-01166-7","volume":"15","author":"Peterson","year":"2023","journal-title":"Genome Med"},{"issue":"5","key":"10.3346\/jkms.2024.39.e250_ref40","doi-asserted-by":"crossref","first-page":"10.1056\/aioa2300009","DOI":"10.1056\/AIoa2300009","volume":"1","author":"Mao","year":"2024","journal-title":"NEJM AI"},{"issue":"21","key":"10.3346\/jkms.2024.39.e250_ref41","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.1093\/bioinformatics\/bts535","volume":"28","author":"Teo","year":"2012","journal-title":"Bioinformatics"},{"issue":"1","key":"10.3346\/jkms.2024.39.e250_ref42","first-page":"76","volume":"10","author":"Kim","year":"2022","journal-title":"Children (Basel)"},{"issue":"5","key":"10.3346\/jkms.2024.39.e250_ref43","first-page":"2869","volume":"11","author":"Hou","year":"2018","journal-title":"Int J Clin Exp Pathol"},{"issue":"2","key":"10.3346\/jkms.2024.39.e250_ref44","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1086\/499925","volume":"78","author":"Tartaglia","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.3346\/jkms.2024.39.e250_ref45","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/j.ajhg.2019.03.024","volume":"104","author":"Duijkers","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.3346\/jkms.2024.39.e250_ref46","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1073\/pnas.81.2.289","volume":"81","author":"Koide","year":"1984","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"10.3346\/jkms.2024.39.e250_ref47","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1007\/s00439-021-02426-5","volume":"141","author":"Chen","year":"2022","journal-title":"Hum Genet"},{"issue":"8","key":"10.3346\/jkms.2024.39.e250_ref48","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1002\/humu.22086","volume":"33","author":"Janssen","year":"2012","journal-title":"Hum Mutat"}],"container-title":["Journal of Korean Medical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jkms.org\/pdf\/10.3346\/jkms.2024.39.e250","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2024.39.e250","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2024.39.e250","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T00:13:34Z","timestamp":1727050414000},"score":1,"resource":{"primary":{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2024.39.e250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":48,"journal-issue":{"issue":"36","published-online":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.3346\/jkms.2024.39.e250","relation":{},"ISSN":["1011-8934","1598-6357"],"issn-type":[{"value":"1011-8934","type":"print"},{"value":"1598-6357","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"2024-03-27","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-14","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-05","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2024 The Korean Academy of Medical Sciences.","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}],"article-number":"e250"}}