{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T23:08:07Z","timestamp":1777072087411,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T00:00:00Z","timestamp":1605052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T00:00:00Z","timestamp":1605052800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003542","name":"Ministerium f\u00fcr Wissenschaft, Forschung und Kunst Baden-W\u00fcrttemberg","doi-asserted-by":"publisher","award":["RiSC"],"award-info":[{"award-number":["RiSC"]}],"id":[{"id":"10.13039\/501100003542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002345","name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","doi-asserted-by":"publisher","award":["Intramural Funding (fort\u00fcne) (2545\u20101\u20100)"],"award-info":[{"award-number":["Intramural Funding (fort\u00fcne) (2545\u20101\u20100)"]}],"id":[{"id":"10.13039\/501100002345","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1002\/humu.24136","type":"journal-article","created":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T11:41:50Z","timestamp":1605008510000},"page":"25-30","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Aberrant\n            <i>COL11A1<\/i>\n            splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus"],"prefix":"10.1155","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8627-8828","authenticated-orcid":false,"given":"Aboulfazl","family":"Rad","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thore","family":"Schade\u2010Mann","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Gamerdinger","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9844-4536","authenticated-orcid":false,"given":"Grigoriy A.","family":"Yanus","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Saint Petersburg State Pediatric Medical University  Saint Petersburg Russia"},{"name":"Department of Tumor Growth Biology N. N. Petrov Institute of Oncology  Saint Petersburg Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bj\u00f6rn","family":"Schulte","sequence":"additional","affiliation":[{"name":"CeGaT GmbH and Praxis f\u00fcr Humangenetik T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5881-7708","authenticated-orcid":false,"given":"Marcus","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeny N.","family":"Imyanitov","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Saint Petersburg State Pediatric Medical University  Saint Petersburg Russia"},{"name":"Department of Tumor Growth Biology N. N. Petrov Institute of Oncology  Saint Petersburg Russia"},{"name":"Department of Oncology I. I. Mechnikov North\u2010Western Medical University  Saint Petersburg Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[{"name":"CeGaT GmbH and Praxis f\u00fcr Humangenetik T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8200-8804","authenticated-orcid":false,"given":"Hubert","family":"L\u00f6wenheim","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anke","family":"Tropitzsch","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6719-3447","authenticated-orcid":false,"given":"Barbara","family":"Vona","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery, T\u00fcbingen Hearing Research Centre Eberhard Karls University T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.006"},{"issue":"8","key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"e691\u2013e698","DOI":"10.1097\/MAO.0000000000001896","article-title":"Audiologic manifestations of Marshall syndrome","volume":"39","author":"Bacciu A.","year":"2018","journal-title":"Otology & Neurotology"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0285-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12386"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21010311"},{"issue":"3","key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1080\/00016480410016162","article-title":"Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: Implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype","volume":"124","author":"Shpargel K. B.","year":"2004","journal-title":"Acta Oto\u2010Laryngologica"},{"issue":"10","key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"e2281","DOI":"10.21769\/BioProtoc.2281","article-title":"Assaying the effects of splice site variants by exon trapping in a mammalian cell line","volume":"7","author":"Tompson S. W.","year":"2017","journal-title":"Bio\u2010protocol"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"107906","DOI":"10.1016\/j.heares.2020.107906","article-title":"Small fish, big prospects: Using zebrafish to unravel the mechanisms of hereditary hearing loss [published online ahead of print February 6, 2020]","author":"Vona B.","year":"2020","journal-title":"Hearing Research"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24136","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24136","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:50Z","timestamp":1672332890000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,11]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/humu.24136"],"URL":"https:\/\/doi.org\/10.1002\/humu.24136","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,11]]},"assertion":[{"value":"2020-06-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}