{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:11:05Z","timestamp":1790014265690,"version":"4.0.1"},"reference-count":5,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center","doi-asserted-by":"publisher","award":["SHDC1 2023116"],"award-info":[{"award-number":["SHDC1 2023116"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201204"],"award-info":[{"award-number":["82201204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171078"],"award-info":[{"award-number":["82171078"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genes & Diseases"],"published-print":{"date-parts":[[2026,11]]},"DOI":"10.1016\/j.gendis.2025.102008","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T16:24:15Z","timestamp":1766507055000},"page":"102008","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Integrative optical genome mapping and long-read sequencing dissect a pathogenic complex structural variant in a multigenerational Chinese retinitis pigmentosa pedigree"],"prefix":"10.1016","volume":"13","author":[{"given":"Yuqiao","family":"Ju","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cong","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaixin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjuan","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge-zhi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gendis.2025.102008_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2021.101029","article-title":"Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities","volume":"89","author":"Schneider","year":"2022","journal-title":"Prog Retin Eye Res"},{"issue":"1","key":"10.1016\/j.gendis.2025.102008_bib2","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/s41525-024-00391-2","article-title":"Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants","volume":"9","author":"Liu","year":"2024","journal-title":"NPJ Genom Med"},{"issue":"11","key":"10.1016\/j.gendis.2025.102008_bib3","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1136\/jmedgenet-2022-108428","article-title":"Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing","volume":"59","author":"Sano","year":"2022","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.gendis.2025.102008_bib4","doi-asserted-by":"crossref","first-page":"398","DOI":"10.3390\/genes12030398","article-title":"Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses","volume":"12","author":"Sahajpal","year":"2021","journal-title":"Genes"},{"issue":"5","key":"10.1016\/j.gendis.2025.102008_bib5","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.ajhg.2020.09.002","article-title":"Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa","volume":"107","author":"de Bruijn","year":"2020","journal-title":"Am J Hum Genet"}],"container-title":["Genes & Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304225004970?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304225004970?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:46:14Z","timestamp":1790012774000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352304225004970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,11]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["S2352304225004970"],"URL":"https:\/\/doi.org\/10.1016\/j.gendis.2025.102008","relation":{},"ISSN":["2352-3042"],"issn-type":[{"value":"2352-3042","type":"print"}],"subject":[],"published":{"date-parts":[[2026,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Integrative optical genome mapping and long-read sequencing dissect a pathogenic complex structural variant in a multigenerational Chinese retinitis pigmentosa pedigree","name":"articletitle","label":"Article Title"},{"value":"Genes & Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gendis.2025.102008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co. Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102008"}}