{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T00:51:14Z","timestamp":1792198274565,"version":"4.4.0"},"reference-count":46,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["OPTH"],"DOI":"10.2147\/opth.s353787","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T12:39:49Z","timestamp":1649767189000},"page":"1127-1138","source":"Crossref","is-referenced-by-count":27,"title":["Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice"],"prefix":"10.2147","volume":"Volume 16","author":[{"given":"Sena","family":"Gocuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanzhang","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1101-2870","authenticated-orcid":true,"given":"Alexis Ceecee","family":"Britten-Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7381-285X","authenticated-orcid":true,"given":"Nathan M","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndell","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8022-8002","authenticated-orcid":true,"given":"Simon","family":"Skalicky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Stawell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N","family":"Ayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9756-1098","authenticated-orcid":true,"given":"Heather G","family":"Mack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2022,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2710","DOI":"10.1073\/pnas.1913179117","volume":"117","author":"Hanany","year":"2020","journal-title":"Proc Natl Acad Sci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1146\/annurev.genet.33.1.89","volume":"33","author":"Rattner","year":"1999","journal-title":"Annu Rev Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1136\/bjophthalmol-2013-303993","volume":"97","author":"Crewe","year":"2013","journal-title":"Br J Ophthalmol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"e004015","DOI":"10.1136\/bmjopen-2013-004015","volume":"4","author":"Liew","year":"2014","journal-title":"BMJ Open"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/bjo.2009.175356","volume":"95","author":"Clemson","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ajo.2016.07.013","volume":"170","author":"Birch","year":"2016","journal-title":"Am J Ophthalmol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-018-37186-2","volume":"9","author":"Miura","year":"2019","journal-title":"Sci Rep"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"4485","DOI":"10.1167\/iovs.10-6932","volume":"52","author":"Schatz","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref9","volume-title":"Gene Therapy, Diet, and Drug Approaches to Treating Inherited Retinal Disease. In: Kenakin T, Editor. Reference Module in Biomedical Sciences - Comprehensive Pharmacology","year":"2021"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1080\/08164622.2021.1880863","volume":"104","author":"Hu","year":"2021","journal-title":"Clin Exp Optom"},{"key":"ref11","unstructured":"Grigg J, Jamieson R, Chen FK, et al. Guidelines for the assessment and management of patients with Inherited Retinal Degenerations. 2020. Available from: www.ranzco.edu. Accessed April 1, 2022."},{"key":"ref12","first-page":"242","volume":"1","author":"Duncan","year":"2016","journal-title":"Clin J Med"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.ophtha.2017.06.018","volume":"124","author":"Moore","year":"2017","journal-title":"Ophthalmology"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","volume":"124","author":"Stone","year":"2017","journal-title":"Ophthalmology"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1080\/13816810.2020.1804943","volume":"41","author":"Strait","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/gim.2015.15","volume":"17","author":"Lee","year":"2015","journal-title":"Genet Med"},{"key":"ref17","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":"ref18","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.23903","volume":"41","author":"Sharon","year":"2020","journal-title":"Hum Mutat"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"105","DOI":"10.3390\/genes11010105","volume":"11","author":"Whelan","year":"2020","journal-title":"Genes"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1080\/13816810.2020.1778736","volume":"41","author":"Shah","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/ajmg.c.31835","volume":"1","author":"Branham","year":"2020","journal-title":"Am J Med Genet Part C"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.2147\/OPTH.S293381","volume":"15","author":"Coco-Martin","year":"2021","journal-title":"Clin Ophthalmol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0738-3991(97)00061-X","volume":"32","author":"Aro","year":"1997","journal-title":"Patient Educ Couns"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1007\/s10995-008-0340-6","volume":"13","author":"Vahratian","year":"2009","journal-title":"Matern Child Health J"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1002\/ajmg.c.31825","volume":"184","author":"Mansfield","year":"2020","journal-title":"Am J Med Genet Part C"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.2147\/OPTH.S293381","volume":"15","author":"Coco-Martin","year":"2021","journal-title":"Clin Ophthalmol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/aos.14218","volume":"98","author":"Holtan","year":"2020","journal-title":"Acta Ophthalmol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1002\/ajmg.c.31825","volume":"184","author":"Mansfield","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1016\/j.ophtha.2020.04.008","volume":"127","author":"Pontikos","year":"2020","journal-title":"Ophthalmology"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"445","DOI":"10.34172\/aim.2020.41","volume":"23","author":"Sabbaghi","year":"2020","journal-title":"Arch Iran Med"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/aos.14218","volume":"98","author":"Holtan","year":"2020","journal-title":"Acta Ophthalmol"},{"key":"ref32","first-page":"60","volume":"2","author":"De Roach","year":"2020","journal-title":"Tasman Med J"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1002\/ajmg.c.31836","volume":"184","author":"Hull","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/ceo.13875","volume":"49","author":"Liu","year":"2021","journal-title":"Clin Exp Ophthalmol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"15939","DOI":"10.1038\/s41598-018-34380-0","volume":"8","author":"Motta","year":"2018","journal-title":"Sci Rep"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/cge.12798","volume":"91","author":"Khan","year":"2017","journal-title":"Clin Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1038\/ng1438","volume":"36","author":"Tishkoff","year":"2004","journal-title":"Nat Genet"},{"key":"ref38","first-page":"243","volume":"230","author":"Kohl","year":"2013","journal-title":"Klin Monbl Augenheilkd"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/s41431-019-0548-5","volume":"28","author":"Jiman","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1016\/j.ophtha.2019.04.031","volume":"126","author":"Li","year":"2019","journal-title":"Ophthalmology"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1097\/01.GIM.0000055201.16487.61","volume":"5","author":"Suther","year":"2003","journal-title":"Genet Med"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/GIM.0b013e3181ab22aa","volume":"11","author":"Suther","year":"2009","journal-title":"Genet Med"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"6","DOI":"10.3928\/23258160-20201223-02","volume":"52","author":"Neiweem","year":"2021","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"ref44","unstructured":"Retinal International Campaign - Know Your Code. 2021. Available from: https:\/\/kyc.retinaint.org\/. Accessed April 1, 2022"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"e1508","DOI":"10.1002\/mgg3.1508","volume":"8","author":"Tan","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1016\/j.ophtha.2012.05.047","volume":"119","author":"Stone","year":"2012","journal-title":"Ophthalmology"}],"container-title":["Clinical Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=79896","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=79896","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T10:37:44Z","timestamp":1675247864000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/genetic-testing-of-inherited-retinal-disease-in-australian-private-ter-peer-reviewed-fulltext-article-OPTH"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":46,"URL":"https:\/\/doi.org\/10.2147\/opth.s353787","relation":{},"ISSN":["1177-5483"],"issn-type":[{"value":"1177-5483","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}