{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:27:58Z","timestamp":1790015278282,"version":"4.0.1"},"reference-count":23,"publisher":"Informa UK Limited","issue":"2","content-domain":{"domain":["www.tandfonline.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[2020,3,3]]},"DOI":"10.1080\/13816810.2020.1747088","type":"journal-article","created":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T09:05:51Z","timestamp":1586768751000},"page":"151-158","update-policy":"https:\/\/doi.org\/10.1080\/tandf_crossmark_01","source":"Crossref","is-referenced-by-count":13,"title":["Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss"],"prefix":"10.1080","volume":"41","author":[{"given":"Heather A.","family":"Stiff","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina M.","family":"Sloan-Heggen","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"},{"name":"Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA"},{"name":"Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanda L.","family":"Pfeifer","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana L.","family":"Kolbe","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla J.","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy L.","family":"Frees","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin T.","family":"Booth","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donghong","family":"Wang","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy E.","family":"Weaver","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hela","family":"Azaiez","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kamholz","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Iowa, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J. H.","family":"Smith","sequence":"additional","affiliation":[{"name":"Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"},{"name":"Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlene V.","family":"Drack","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA"},{"name":"The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2020,4,13]]},"reference":[{"key":"CIT0001","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0168-7"},{"key":"CIT0002","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2014.4498"},{"issue":"4","key":"CIT0003","first-page":"223","volume":"1","author":"Espinos C","year":"1998","journal-title":"Community Genet"},{"key":"CIT0004","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500107"},{"key":"CIT0005","volume-title":"Hereditary hearing loss and its syndromes","author":"Toriello HVSS","year":"2013","edition":"3"},{"key":"CIT0007","unstructured":"Deaf-Blindness TNCo. The 2017 National Child Count of Children and Youth who are Deaf-Blind 2018."},{"key":"CIT0008","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12497"},{"key":"CIT0009","doi-asserted-by":"publisher","DOI":"10.2105\/AJPH.94.5.823"},{"key":"CIT0010","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2010.12.019"},{"key":"CIT0011","doi-asserted-by":"publisher","DOI":"10.1093\/deafed\/ent022"},{"key":"CIT0012","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.02.013"},{"key":"CIT0013","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.116.2.165"},{"key":"CIT0014","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0802268"},{"key":"CIT0015","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1414221"},{"key":"CIT0016","unstructured":"Sanofi. Study of UshStat in patients with retinitis pigmentosa associated with Usher syndrome type 1B. ClinicalTrialsgov. Betheseda (MD): National Library of Medicine; 2000a."},{"key":"CIT0017","unstructured":"Sanofi. A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat in Patients with Usher Syndrome Type 1B [Internet]. National Library of Medicine; 2000b."},{"key":"CIT0018","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2008.105"},{"key":"CIT0019","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795860125"},{"key":"CIT0020","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"CIT0021","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2016.1164196"},{"key":"CIT0022","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1986.01050190071042"},{"key":"CIT0023","doi-asserted-by":"publisher","DOI":"10.1177\/019459988108900524"},{"key":"CIT0024","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2015.05.036"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.1080\/13816810.2020.1747088","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T12:15:34Z","timestamp":1587125734000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.1080\/13816810.2020.1747088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,3]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,3,3]]}},"alternative-id":["10.1080\/13816810.2020.1747088"],"URL":"https:\/\/doi.org\/10.1080\/13816810.2020.1747088","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"value":"1381-6810","type":"print"},{"value":"1744-5094","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,3]]},"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":"2019-12-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-04","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}