{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:29:48Z","timestamp":1761006588411,"version":"build-2065373602"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013915","name":"Sarnoff Cardiovascular Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>\u201cCookie\u2010bite\u201d or U\u2010shaped audiograms\u2014specifically, those showing midfrequency sensorineural hearing loss (HL)\u2014are traditionally taught to be associated with genetic HL; however, their utility as a screening tool has not been reported. We aim to determine the performance of a cookie\u2010bite audiogram shape in stratifying patients carrying putative loss\u2010of\u2010function variants in known HL genes from wild\u2010type controls. We merged audiometric and exome sequencing data from adults enrolled in a large biobank at a tertiary care center. Of 321 patients, 50 carried a putative loss\u2010of\u2010function variant in an HL gene. The cookie\u2010bite shape was present in 9 of those patients, resulting in low sensitivity (18%) and positive predictive value (15%) in stratifying genetic carrier status; 84% of patients with a cookie\u2010bite audiogram did not carry a genetic variant. A cookie\u2010bite audiogram should not be used to screen adults for possible genetic testing.<\/jats:p>","DOI":"10.1177\/01945998211015181","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T04:03:59Z","timestamp":1622520239000},"page":"537-539","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["How Does the \u201cCookie\u2010Bite\u201d Audiogram Shape Perform in Discriminating Genetic Hearing Loss in Adults?"],"prefix":"10.1002","volume":"166","author":[{"given":"Shadi","family":"Ahmadmehrabi","sequence":"first","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine Case Western Reserve University Cleveland Ohio USA"},{"name":"Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binglan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas J.","family":"Epstein","sequence":"additional","affiliation":[{"name":"Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Ruckenstein","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason A.","family":"Brant","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"},{"name":"Corporal Michael J. Crescenz VA Medical Center Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.28646"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348949410300602"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.008"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.56"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.088310"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006371"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.08.006"},{"key":"e_1_2_8_9_1","unstructured":"Van CampG SmithR.Hereditary Hearing Loss Homepage. Accessed November 4 2019.https:\/\/hereditaryhearingloss.org\/"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.2310\/7070.2004.00390"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2007.00828.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2011.593562"},{"volume-title":"Hereditary Hearing Loss and Its Syndromes","year":"2013","author":"Toriello H","key":"e_1_2_8_13_1"}],"container-title":["Otolaryngology\u2013Head and Neck Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1177\/01945998211015181","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1177\/01945998211015181","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1177\/01945998211015181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:36:57Z","timestamp":1760953017000},"score":1,"resource":{"primary":{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/10.1177\/01945998211015181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1177\/01945998211015181"],"URL":"https:\/\/doi.org\/10.1177\/01945998211015181","archive":["Portico"],"relation":{},"ISSN":["0194-5998","1097-6817"],"issn-type":[{"type":"print","value":"0194-5998"},{"type":"electronic","value":"1097-6817"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"2020-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}