{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T11:46:18Z","timestamp":1790595978408,"version":"4.1.0"},"reference-count":57,"publisher":"XMLink","issue":"16","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008783","name":"National Research Council of Science and Technology","doi-asserted-by":"publisher","award":["GTL24021-000"],"award-info":[{"award-number":["GTL24021-000"]}],"id":[{"id":"10.13039\/501100008783","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003625","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["RS-2022-KH125938"],"award-info":[{"award-number":["RS-2022-KH125938"]}],"id":[{"id":"10.13039\/501100003625","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002560","name":"Soonchunhyang University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002560","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.2025.40.e54","type":"journal-article","created":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T05:01:02Z","timestamp":1734066062000},"update-policy":"https:\/\/doi.org\/10.3346\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa"],"prefix":"10.3346","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0534-2558","authenticated-orcid":false,"given":"Hyo Song","family":"Park","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, College of Medicine, Soonchunhyang University, Cheonan, Korea."},{"name":"Department of Ophthalmology, Soonchunhyang University Hospital Bucheon, Bucheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7712-3135","authenticated-orcid":false,"given":"Kyung","family":"Kim","sequence":"additional","affiliation":[{"name":"Genoscape PTE, Ltd., Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3628-8152","authenticated-orcid":false,"given":"Dongwook","family":"Lee","sequence":"additional","affiliation":[{"name":"Genoscape PTE, Ltd., Singapore."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0092-9958","authenticated-orcid":false,"given":"Jong-Young","family":"Lee","sequence":"additional","affiliation":[{"name":"Oneomics Institute, Gimpo, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0929-460X","authenticated-orcid":false,"given":"Jeong Nam","family":"Choi","sequence":"additional","affiliation":[{"name":"Korean Foundation for Fighting Blindness, Seoul, Korea."},{"name":"Singularity Biotechnology, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4001-1487","authenticated-orcid":false,"given":"Jin Ha","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, College of Medicine, Soonchunhyang University, Cheonan, Korea."},{"name":"Department of Ophthalmology, Soonchunhyang University Hospital Bucheon, Bucheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1145-8693","authenticated-orcid":false,"given":"Jung Woo","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, College of Medicine, Soonchunhyang University, Cheonan, Korea."},{"name":"Department of Ophthalmology, Soonchunhyang University Hospital Bucheon, Bucheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9689-4384","authenticated-orcid":false,"given":"Tae Kwann","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, College of Medicine, Soonchunhyang University, Cheonan, Korea."},{"name":"Department of Ophthalmology, Soonchunhyang University Hospital Bucheon, Bucheon, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18617","published-online":{"date-parts":[[2025]]},"reference":[{"key":"10.3346\/jkms.2025.40.e54_ref1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.preteyeres.2017.10.004","volume":"63","author":"Dias","year":"2018","journal-title":"Prog Retin Eye Res"},{"issue":"3","key":"10.3346\/jkms.2025.40.e54_ref2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/IAE.0000000000001341","volume":"37","author":"Hafler","year":"2017","journal-title":"Retina"},{"issue":"9549","key":"10.3346\/jkms.2025.40.e54_ref3","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"issue":"5","key":"10.3346\/jkms.2025.40.e54_ref4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.preteyeres.2010.03.004","volume":"29","author":"Berger","year":"2010","journal-title":"Prog Retin Eye Res"},{"key":"10.3346\/jkms.2025.40.e54_ref5","volume-title":"Genomics in the Cloud: Using Docker, GATK, and WDL in Terra","author":"Van der Auwera","year":"2020"},{"issue":"5","key":"10.3346\/jkms.2025.40.e54_ref6","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet"},{"issue":"10","key":"10.3346\/jkms.2025.40.e54_ref7","doi-asserted-by":"crossref","first-page":"e1007453","DOI":"10.1371\/journal.pcbi.1007453","volume":"15","author":"Xavier","year":"2019","journal-title":"PLoS Comput Biol"},{"issue":"5","key":"10.3346\/jkms.2025.40.e54_ref8","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref9","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"7","key":"10.3346\/jkms.2025.40.e54_ref10","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"issue":"D1","key":"10.3346\/jkms.2025.40.e54_ref11","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref12","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"Shihab","year":"2013","journal-title":"Hum Mutat"},{"issue":"17","key":"10.3346\/jkms.2025.40.e54_ref13","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref14","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref15","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/s41588-023-01608-3","volume":"56","author":"Guo","year":"2024","journal-title":"Nat Genet"},{"issue":"10","key":"10.3346\/jkms.2025.40.e54_ref16","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1136\/jmedgenet-2018-105691","volume":"56","author":"Koyanagi","year":"2019","journal-title":"J Med Genet"},{"issue":"12","key":"10.3346\/jkms.2025.40.e54_ref17","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1038\/ejhg.2016.99","volume":"24","author":"Bonnet","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref18","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s12920-021-00874-6","volume":"14","author":"Ma","year":"2021","journal-title":"BMC Med Genomics"},{"key":"10.3346\/jkms.2025.40.e54_ref19","volume-title":"Genetic Analysis of Korean Pediatric Patients With Inherited Retinal Disease","author":"Bae","year":"2021"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref20","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s10384-020-00732-5","volume":"64","author":"Nishiguchi","year":"2020","journal-title":"Jpn J Ophthalmol"},{"issue":"21","key":"10.3346\/jkms.2025.40.e54_ref21","doi-asserted-by":"crossref","first-page":"e161","DOI":"10.3346\/jkms.2019.34.e161","volume":"34","author":"Kim","year":"2019","journal-title":"J Korean Med Sci"},{"issue":"2","key":"10.3346\/jkms.2025.40.e54_ref22","doi-asserted-by":"crossref","first-page":"e31036","DOI":"10.1371\/journal.pone.0031036","volume":"7","author":"Hosono","year":"2012","journal-title":"PLoS One"},{"key":"10.3346\/jkms.2025.40.e54_ref23","first-page":"49","volume":"30","author":"Pantrangi","year":"2024","journal-title":"Mol Vis"},{"issue":"12","key":"10.3346\/jkms.2025.40.e54_ref24","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1016\/j.oret.2021.02.009","volume":"5","author":"Murakami","year":"2021","journal-title":"Ophthalmol Retina"},{"issue":"5","key":"10.3346\/jkms.2025.40.e54_ref25","doi-asserted-by":"crossref","first-page":"675","DOI":"10.3390\/genes12050675","volume":"12","author":"Kim","year":"2021","journal-title":"Genes (Basel)"},{"issue":"2","key":"10.3346\/jkms.2025.40.e54_ref26","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1136\/jmg-2023-109470","volume":"61","author":"Weisschuh","year":"2024","journal-title":"J Med Genet"},{"issue":"24","key":"10.3346\/jkms.2025.40.e54_ref27","doi-asserted-by":"crossref","first-page":"13294","DOI":"10.3390\/ijms222413294","volume":"22","author":"Mansard","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"7","key":"10.3346\/jkms.2025.40.e54_ref28","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/jhg.2011.45","volume":"56","author":"Nakanishi","year":"2011","journal-title":"J Hum Genet"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref29","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.23903","volume":"41","author":"Sharon","year":"2020","journal-title":"Hum Mutat"},{"issue":"9","key":"10.3346\/jkms.2025.40.e54_ref30","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1002\/humu.24064","volume":"41","author":"Weisschuh","year":"2020","journal-title":"Hum Mutat"},{"key":"10.3346\/jkms.2025.40.e54_ref31","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ajo.2019.06.002","volume":"207","author":"Jauregui","year":"2019","journal-title":"Am J Ophthalmol"},{"issue":"8","key":"10.3346\/jkms.2025.40.e54_ref32","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ejmg.2013.06.003","volume":"56","author":"Ramsden","year":"2013","journal-title":"Eur J Med Genet"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref33","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/gim.2014.138","volume":"17","author":"Huang","year":"2015","journal-title":"Genet Med"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref34","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1007\/s10528-019-09907-3","volume":"57","author":"Gao","year":"2019","journal-title":"Biochem Genet"},{"issue":"3","key":"10.3346\/jkms.2025.40.e54_ref35","first-page":"260","volume":"11","author":"Nakahara","year":"2021","journal-title":"Life (Basel)"},{"issue":"3","key":"10.3346\/jkms.2025.40.e54_ref36","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.3346\/jkms.2022.37.e5","volume":"37","author":"Kim","year":"2022","journal-title":"J Korean Med Sci"},{"key":"10.3346\/jkms.2025.40.e54_ref37","first-page":"26","volume":"26","author":"Surl","year":"2020","journal-title":"Mol Vis"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref38","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1001\/archophthalmol.2010.309","volume":"128","author":"McKibbin","year":"2010","journal-title":"Arch Ophthalmol"},{"issue":"3","key":"10.3346\/jkms.2025.40.e54_ref39","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1167\/iovs.15-18702","volume":"57","author":"Beryozkin","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.3346\/jkms.2025.40.e54_ref40","first-page":"2411","volume":"18","author":"Siemiatkowska","year":"2012","journal-title":"Mol Vis"},{"issue":"40","key":"10.3346\/jkms.2025.40.e54_ref41","doi-asserted-by":"crossref","first-page":"16139","DOI":"10.1073\/pnas.1308243110","volume":"110","author":"Nishiguchi","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"10.3346\/jkms.2025.40.e54_ref42","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/cga.12098","volume":"55","author":"Okamoto","year":"2015","journal-title":"Congenit Anom (Kyoto)"},{"issue":"7","key":"10.3346\/jkms.2025.40.e54_ref43","doi-asserted-by":"crossref","first-page":"178","DOI":"10.3390\/genes8070178","volume":"8","author":"McGuigan","year":"2017","journal-title":"Genes (Basel)"},{"issue":"10","key":"10.3346\/jkms.2025.40.e54_ref44","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1007\/s00439-014-1460-2","volume":"133","author":"Xu","year":"2014","journal-title":"Hum Genet"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref45","doi-asserted-by":"crossref","first-page":"13381","DOI":"10.1038\/s41598-021-92834-4","volume":"11","author":"Won","year":"2021","journal-title":"Sci Rep"},{"issue":"12","key":"10.3346\/jkms.2025.40.e54_ref46","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1002\/humu.24492","volume":"43","author":"Suga","year":"2022","journal-title":"Hum Mutat"},{"issue":"12","key":"10.3346\/jkms.2025.40.e54_ref47","doi-asserted-by":"crossref","first-page":"e0207958","DOI":"10.1371\/journal.pone.0207958","volume":"13","author":"Birtel","year":"2018","journal-title":"PLoS One"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref48","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","volume":"100","author":"Carss","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.3346\/jkms.2025.40.e54_ref49","doi-asserted-by":"crossref","first-page":"819760","DOI":"10.1155\/2015\/819760","volume":"2015","author":"Arai","year":"2015","journal-title":"J Ophthalmol"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref50","doi-asserted-by":"crossref","first-page":"20770","DOI":"10.1038\/s41598-020-77558-1","volume":"10","author":"Numa","year":"2020","journal-title":"Sci Rep"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref51","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/ceo.13708","volume":"48","author":"Chen","year":"2020","journal-title":"Clin Exp Ophthalmol"},{"issue":"1","key":"10.3346\/jkms.2025.40.e54_ref52","doi-asserted-by":"crossref","first-page":"86","DOI":"10.3390\/ijms21010086","volume":"21","author":"Karali","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"11","key":"10.3346\/jkms.2025.40.e54_ref53","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1016\/j.ophtha.2019.04.038","volume":"126","author":"Gao","year":"2019","journal-title":"Ophthalmology"},{"issue":"8","key":"10.3346\/jkms.2025.40.e54_ref54","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1016\/j.ophtha.2019.03.018","volume":"126","author":"Martin-Merida","year":"2019","journal-title":"Ophthalmology"},{"key":"10.3346\/jkms.2025.40.e54_ref55","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"10.3346\/jkms.2025.40.e54_ref56","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/nrg2717","volume":"11","author":"Wright","year":"2010","journal-title":"Nat Rev Genet"},{"key":"10.3346\/jkms.2025.40.e54_ref57","first-page":"477","volume":"21","author":"Xu","year":"2015","journal-title":"Mol Vis"}],"container-title":["Journal of Korean Medical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jkms.org\/pdf\/10.3346\/jkms.2025.40.e54","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2025.40.e54","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2025.40.e54","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:11:06Z","timestamp":1745799066000},"score":1,"resource":{"primary":{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2025.40.e54"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":57,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.3346\/jkms.2025.40.e54","relation":{},"ISSN":["1011-8934","1598-6357"],"issn-type":[{"value":"1011-8934","type":"print"},{"value":"1598-6357","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"2024-06-24","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-29","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-13","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 2025 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":"e54"}}