{"id":"https://openalex.org/W2233570700","doi":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","title":"Prevalence and nature of connexin 26 mutations in children with non\u2010syndromic deafness","display_name":"Prevalence and nature of connexin 26 mutations in children with non\u2010syndromic deafness","publication_year":2001,"publication_date":"2001-08-01","ids":{"openalex":"https://openalex.org/W2233570700","doi":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","mag":"2233570700","pmid":"https://pubmed.ncbi.nlm.nih.gov/11587277"},"language":"en","primary_location":{"id":"doi:10.5694/j.1326-5377.2001.tb143093.x","doi":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","is_oa":false,"landing_page_url":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","pdf_url":null,"source":{"id":"https://openalex.org/S13978405","display_name":"The Medical Journal of Australia","issn_l":"0025-729X","issn":["0025-729X","1326-5377"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medical Journal of Australia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5002033306","display_name":"Hans\u2010Henrik M. Dahl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Hans\u2010Henrik M Dahl","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103808107","display_name":"Kerryn Saunders","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I56590836","display_name":"Monash University","ror":"https://ror.org/02bfwt286","country_code":"AU","type":"education","lineage":["https://openalex.org/I56590836"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Kerryn Saunders","raw_affiliation_strings":["Department of Paediatrics, Southern Health and Monash University, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Southern Health and Monash University, Melbourne, VIC","institution_ids":["https://openalex.org/I56590836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039174625","display_name":"Therese Kelly","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Therese M Kelly","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022700077","display_name":"Amelia H. Osborn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Amelia H Osborn","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112233754","display_name":"Stephen Wilcox","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Stephen Wilcox","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023647516","display_name":"Barbara Katherine Cone-Wesson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Barbara Cone\u2010Wesson","raw_affiliation_strings":["Department of Otolaryngology, University of Melbourne, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology, University of Melbourne, Melbourne, VIC","institution_ids":["https://openalex.org/I165779595"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007176418","display_name":"Julia Louise Wunderlich","orcid":"https://orcid.org/0000-0002-8339-5030","observed_orcids":["https://orcid.org/0000-0002-8339-5030"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julia L Wunderlich","raw_affiliation_strings":["Department of Audiology, Southern Health, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Audiology, Southern Health, Melbourne, VIC","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060421217","display_name":"Desir\u00e9e du Sart","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Desiree Du Sart","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080215437","display_name":"Maria Kamarinos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Maria Kamarinos","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024810276","display_name":"R. J McKinlay Gardner","orcid":"https://orcid.org/0000-0003-2436-2535","observed_orcids":["https://orcid.org/0000-0003-2436-2535"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Robert J McKinlay Gardner","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050692344","display_name":"Shirley Dennehy","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shirley Dennehy","raw_affiliation_strings":["Taralye, 137 Blackburn Road, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Taralye, 137 Blackburn Road, Melbourne, VIC","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113689588","display_name":"Robert Williamson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I4210109019","display_name":"Victorian Clinical Genetics Services","ror":"https://ror.org/01mmz5j21","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210109019","https://openalex.org/I4210150290"]},{"id":"https://openalex.org/I4210150290","display_name":"Murdoch Children's Research Institute","ror":"https://ror.org/048fyec77","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I4210150290"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Robert Williamson","raw_affiliation_strings":["Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Murdoch Children's Research Institute, Victorian Clinical Genetics Service, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC","institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111834560","display_name":"Neil A. Vallance","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Neil Vallance","raw_affiliation_strings":["Department of ENT and Head and Neck Surgery, Southern Health, Melbourne, VIC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of ENT and Head and Neck Surgery, Southern Health, Melbourne, VIC","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049349137","display_name":"Patricia E Mutton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]},{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Patricia Mutton","raw_affiliation_strings":["The Deafness Centre, The Children's Hospital at Westmead, Sydney, NSW"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Deafness Centre, The Children's Hospital at Westmead, Sydney, NSW","institution_ids":["https://openalex.org/I2802384191","https://openalex.org/I2803024705"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5002033306"],"corresponding_institution_ids":["https://openalex.org/I1321649718","https://openalex.org/I165779595","https://openalex.org/I4210109019","https://openalex.org/I4210150290"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":1.7659,"has_fulltext":false,"cited_by_count":43,"citation_normalized_percentile":{"value":0.83108644,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"175","issue":"4","first_page":"191","last_page":"194"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9810000061988831,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9810000061988831,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11480","display_name":"Connexins and lens biology","score":0.013199999928474426,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/connexin-26","display_name":"connexin 26","score":0.9929999709129333},{"id":"https://openalex.org/keywords/gjb2-mutations","display_name":"GJB2 mutations","score":0.8489999771118164},{"id":"https://openalex.org/keywords/non-syndromic-hearing-loss","display_name":"non-syndromic hearing loss","score":0.9319999814033508},{"id":"https://openalex.org/keywords/prelingual-deafness","display_name":"prelingual deafness","score":0.9919999837875366},{"id":"https://openalex.org/keywords/35delg-mutation","display_name":"35delG mutation","score":0.9549999833106995},{"id":"https://openalex.org/keywords/carrier-frequency","display_name":"carrier frequency","score":0.7879999876022339},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.8619999885559082},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8180000185966492},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.3959999978542328},{"id":"https://openalex.org/keywords/australian-population","display_name":"Australian population","score":0.703000009059906}],"concepts":[{"id":"https://openalex.org/C2780228694","wikidata":"https://www.wikidata.org/wiki/Q423489","display_name":"Connexin","level":4,"score":0.8032153844833374},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5967921018600464},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.592186450958252},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.5616170763969421},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5501582622528076},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5358561277389526},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5210813283920288},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.49708297848701477},{"id":"https://openalex.org/C167871757","wikidata":"https://www.wikidata.org/wiki/Q4982391","display_name":"Buccal swab","level":2,"score":0.4252581298351288},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3432987332344055},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3240204453468323},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.18011847138404846},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0970354974269867},{"id":"https://openalex.org/C158157758","wikidata":"https://www.wikidata.org/wiki/Q232438","display_name":"Gap junction","level":3,"score":0.05364540219306946},{"id":"https://openalex.org/C79879829","wikidata":"https://www.wikidata.org/wiki/Q5571762","display_name":"Intracellular","level":2,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001315","descriptor_name":"Australia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.5694/j.1326-5377.2001.tb143093.x","doi":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","is_oa":false,"landing_page_url":"https://doi.org/10.5694/j.1326-5377.2001.tb143093.x","pdf_url":null,"source":{"id":"https://openalex.org/S13978405","display_name":"The Medical Journal of Australia","issn_l":"0025-729X","issn":["0025-729X","1326-5377"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medical Journal of Australia","raw_type":"journal-article"},{"id":"pmid:11587277","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11587277","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Medical journal of Australia","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.979200005531311,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W151092247","https://openalex.org/W1719048308","https://openalex.org/W1964822570","https://openalex.org/W1991259792","https://openalex.org/W1994718834","https://openalex.org/W1999640231","https://openalex.org/W2009581629","https://openalex.org/W2014469165","https://openalex.org/W2019304102","https://openalex.org/W2038524285","https://openalex.org/W2059541610","https://openalex.org/W2079968536","https://openalex.org/W2080097561","https://openalex.org/W2114929889","https://openalex.org/W2127761966","https://openalex.org/W2131514063","https://openalex.org/W2135117966","https://openalex.org/W2140107851","https://openalex.org/W2158585306","https://openalex.org/W2162786182","https://openalex.org/W2165300048"],"related_works":["https://openalex.org/W2034612349","https://openalex.org/W2083396173","https://openalex.org/W2097866231","https://openalex.org/W2037032362","https://openalex.org/W2663881789","https://openalex.org/W2392667973","https://openalex.org/W2291558753","https://openalex.org/W2105779003","https://openalex.org/W1967164346","https://openalex.org/W2030173765"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"determine":[2],"(1)":[3,83,135],"the":[4,24,28,35,120,128,153,157,164,179,206,212,241,248,266,271],"prevalence":[5,137],"and":[6,22,66,102,138,173,193,226,239,258],"nature":[7],"of":[8,15,27,127,140,147,156,178,205,211,235,240,278],"connexin":[9,30,141,159,213,236,244,267],"26":[10,31,142,160,169,214,237,245,268],"mutations":[11,143,170,189,224,238],"in":[12,34,70,100,116,144,163,175,203,216,247,256,260,265,282],"a":[13,67,145,218,275],"cohort":[14,146],"Australian":[16,72],"children":[17,85,148],"with":[18,149],"non-syndromic":[19],"hearing":[20,62,97,280],"loss,":[21],"(2)":[23,104,152],"carrier":[25,154,233],"frequency":[26,155,234],"common":[29,158,198,242,276],"mutation":[32,200,219,246],"(35delG)":[33],"general":[36,165],"population.":[37,166],"DESIGN:":[38],"A":[39,61],"cohort,":[40],"case-finding":[41],"study.":[42],"Mutation":[43],"analysis":[44],"was":[45,201,220,251],"performed":[46],"on":[47],"DNA":[48],"extracted":[49],"from":[50,109],"white":[51],"blood":[52,58,106,113],"cells,":[53,55],"buccal":[54],"or":[56],"Guthrie":[57,111],"spots.":[59],"SETTING:":[60],"loss":[63,98,281],"investigation":[64],"clinic":[65],"deafness":[68],"centre":[69],"two":[71],"capital":[73],"cities,":[74],"1":[75,255,259],"January":[76],"1998":[77],"to":[78,90,253],"31":[79],"October":[80],"2000.":[81],"PARTICIPANTS:":[82],"243":[84,180],"(age":[86],"range,":[87],"4":[88,94],"weeks":[89],"16":[91],"years;":[92],"median,":[93],"years),":[95],"attending":[96],"clinics":[99],"Sydney":[101],"Melbourne;":[103],"1000":[105],"samples":[107],"obtained":[108],"anonymous":[110],"card":[112],"spots":[114],"collected":[115],"1984":[117],"[corrected]":[118],"by":[119],"Victorian":[121,249],"Clinical":[122],"Genetics":[123],"Service":[124],"as":[125],"part":[126],"newborn":[129],"screening":[130],"program.":[131],"MAIN":[132],"OUTCOME":[133],"MEASURES:":[134],"The":[136,197,223,232],"types":[139],"prelingual":[150,279],"deafness;":[151],"mutation,":[161],"35delG,":[162],"RESULTS:":[167],"Connexin":[168],"were":[171,195,228],"identified":[172],"characterised":[174],"52":[176],"(21%)":[177],"children;":[181],"14":[182],"different":[183],"mutations,":[184],"including":[185],"four":[186],"previously":[187],"unreported":[188],"(135S,":[190],"C53R,":[191],"T123N":[192],"R127C),":[194],"identified.":[196],"35delG":[199,243,272],"found":[202],"56":[204],"104":[207],"alleles":[208,215],"(ie,":[209],"86":[210],"which":[217],"positively":[221],"identified).":[222],"V371":[225],"M34T":[227],"also":[229],"relatively":[230],"common.":[231],"population":[250],"estimated":[252],"be":[254],"54":[257],"100,":[261],"respectively.":[262],"CONCLUSIONS:":[263],"Mutations":[264],"gene":[269],"(especially":[270],"mutation)":[273],"are":[274],"cause":[277],"Australia.":[283]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
