{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:52:55Z","timestamp":1787007175634,"version":"build-2736575974"},"reference-count":63,"publisher":"Informa UK Limited","issue":"3","funder":[{"name":"no funding"}],"content-domain":{"domain":["www.tandfonline.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[2023,5,4]]},"DOI":"10.1080\/13816810.2022.2113546","type":"journal-article","created":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T07:54:11Z","timestamp":1662969251000},"page":"304-312","update-policy":"https:\/\/doi.org\/10.1080\/tandf_crossmark_01","source":"Crossref","is-referenced-by-count":1,"title":["A novel\n                    <i>WFS1<\/i>\n                    variant associated with severe diabetic retinopathy in Wolfram syndrome type 1"],"prefix":"10.1080","volume":"44","author":[{"given":"Rym","family":"Maamouri","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia"},{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7720-1279","authenticated-orcid":false,"given":"Syrine","family":"Hizem","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Kammoun","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of endocrinology and metabolic diseases, National Institute \u201cZouhair Kallel\u201d of Nutrition, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmina","family":"Elaribi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Rejeb","sequence":"additional","affiliation":[{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molka","family":"Sebai","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houweyda","family":"Jilani","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Rouzier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monia","family":"Cheour","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia"},{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Paquis-Flucklinger","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamia","family":"Ben Jemaa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"},{"name":"Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2022,9,12]]},"reference":[{"key":"cit0001","first-page":"715","volume":"13","author":"Wolfram DJ","year":"1938","journal-title":"Mayo Clin Proc"},{"key":"cit0002","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(95)92473-6"},{"key":"cit0003","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-030015"},{"key":"cit0004","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-013-0039-4"},{"key":"cit0005","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-015-0702-6"},{"key":"cit0006","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2018.17"},{"key":"cit0007","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2021"},{"key":"cit0008","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2501"},{"key":"cit0009","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph18094796"},{"key":"cit0010","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2509"},{"key":"cit0011","doi-asserted-by":"publisher","DOI":"10.2337\/dc08-0178"},{"key":"cit0012","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-0950-4"},{"key":"cit0013","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12513"},{"key":"cit0014","doi-asserted-by":"publisher","DOI":"10.2337\/db16-1296"},{"key":"cit0015","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31809"},{"key":"cit0016","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.18.12.1566"},{"key":"cit0017","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9300"},{"key":"cit0018","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"cit0019","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200057"},{"key":"cit0020","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph19063225"},{"key":"cit0021","doi-asserted-by":"publisher","DOI":"10.2337\/dc10-1937"},{"key":"cit0022","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-018-1608-2"},{"key":"cit0023","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1997.226"},{"key":"cit0024","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.22.8.1376a"},{"key":"cit0025","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0698"},{"key":"cit0026","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2014.07.162"},{"key":"cit0027","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.12.2.135"},{"key":"cit0028","doi-asserted-by":"publisher","DOI":"10.1177\/112067210201200202"},{"key":"cit0029","doi-asserted-by":"publisher","DOI":"10.1159\/000490535"},{"key":"cit0030","doi-asserted-by":"publisher","DOI":"10.1177\/1120672119842489"},{"key":"cit0031","doi-asserted-by":"publisher","DOI":"10.3109\/13816818609004133"},{"key":"cit0032","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201491"},{"key":"cit0033","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2011.03377.x"},{"key":"cit0034","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.040"},{"key":"cit0035","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-020-02320-6"},{"key":"cit0036","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2022.120267"},{"key":"cit0037","doi-asserted-by":"publisher","DOI":"10.18502\/jovr.v16i4.9750"},{"key":"cit0038","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.e37"},{"key":"cit0039","doi-asserted-by":"publisher","DOI":"10.1186\/1757-1626-2-9355"},{"key":"cit0040","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0b013e3181ad3944"},{"key":"cit0041","doi-asserted-by":"publisher","DOI":"10.1097\/OPX.0b013e31822f4d8f"},{"key":"cit0042","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.22.8.1378"},{"key":"cit0043","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2022.101452"},{"key":"cit0044","doi-asserted-by":"publisher","DOI":"10.1007\/BF01206246"},{"key":"cit0045","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-011-9308-8"},{"key":"cit0046","doi-asserted-by":"publisher","DOI":"10.1007\/BF02169784"},{"issue":"1","key":"cit0047","first-page":"35","volume":"3","author":"Moghtaderi M","year":"2015","journal-title":"J Ped Nephrology"},{"issue":"3","key":"cit0048","first-page":"331","volume":"25","author":"Rezaei L","year":"2020","journal-title":"Bina J Ophthalmol"},{"key":"cit0049","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.4.328"},{"key":"cit0050","doi-asserted-by":"publisher","DOI":"10.1007\/s00347-003-0833-z"},{"key":"cit0051","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2003.10.012"},{"issue":"1","key":"cit0052","first-page":"53","volume":"5","author":"Naderian G","year":"2010","journal-title":"J Ophthalmic Vis Res"},{"key":"cit0053","doi-asserted-by":"publisher","DOI":"10.4172\/2155-6156.1000561"},{"key":"cit0054","doi-asserted-by":"publisher","DOI":"10.1016\/j.joco.2015.11.003"},{"key":"cit0055","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198711263172206"},{"key":"cit0056","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4690-3"},{"key":"cit0057","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23358"},{"key":"cit0058","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01217"},{"key":"cit0059","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.180"},{"key":"cit0060","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.10.017"},{"key":"cit0061","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01945"},{"key":"cit0062","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M507426200"},{"key":"cit0063","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2009.05.007"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.1080\/13816810.2022.2113546","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T06:47:43Z","timestamp":1687157263000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.1080\/13816810.2022.2113546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,12]]},"references-count":63,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5,4]]}},"alternative-id":["10.1080\/13816810.2022.2113546"],"URL":"https:\/\/doi.org\/10.1080\/13816810.2022.2113546","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"value":"1381-6810","type":"print"},{"value":"1744-5094","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,12]]},"assertion":[{"value":"The publishing and review policy for this title is described in its Aims & Scope.","order":1,"name":"peerreview_statement","label":"Peer Review Statement"},{"value":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","URL":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","order":2,"name":"aims_and_scope_url","label":"Aim & Scope"},{"value":"2022-04-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-04","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}