{"id":"https://openalex.org/W2075175503","doi":"https://doi.org/10.1177/000348941011901207","title":"Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population","display_name":"Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population","publication_year":2010,"publication_date":"2010-12-01","ids":{"openalex":"https://openalex.org/W2075175503","doi":"https://doi.org/10.1177/000348941011901207","mag":"2075175503","pmid":"https://pubmed.ncbi.nlm.nih.gov/21250555","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3058627"},"language":"en","primary_location":{"id":"doi:10.1177/000348941011901207","doi":"https://doi.org/10.1177/000348941011901207","is_oa":false,"landing_page_url":"https://doi.org/10.1177/000348941011901207","pdf_url":null,"source":{"id":"https://openalex.org/S174332447","display_name":"Annals of Otology Rhinology & Laryngology","issn_l":"0003-4894","issn":["0003-4894","1943-572X"],"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-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Otology, Rhinology & Laryngology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3058627/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042789080","display_name":"Michael S. Hildebrand","orcid":"https://orcid.org/0000-0003-2739-0515","observed_orcids":["https://orcid.org/0000-0003-2739-0515"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael S. Hildebrand","raw_affiliation_strings":["Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA","University of Iowa, "],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA","institution_ids":["https://openalex.org/I126307644"]},{"raw_affiliation_string":"University of Iowa, ","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008991824","display_name":"Kimia Kahrizi","orcid":"https://orcid.org/0000-0002-6587-7706","observed_orcids":["https://orcid.org/0000-0002-6587-7706"]},"institutions":[{"id":"https://openalex.org/I4210166308","display_name":"University of Social Welfare and Rehabilitation Sciences","ror":"https://ror.org/05jme6y84","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210166308"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Kimia Kahrizi","raw_affiliation_strings":["Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","University of Social Welfare and Rehabilitation Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I4210166308"]},{"raw_affiliation_string":"University of Social Welfare and Rehabilitation Sciences","institution_ids":["https://openalex.org/I4210166308"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108237249","display_name":"Catherine J. Bromhead","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Catherine J. Bromhead","raw_affiliation_strings":["Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia","Walter & Eliza Hall Inst. of Medical Research;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia","institution_ids":["https://openalex.org/I196021976"]},{"raw_affiliation_string":"Walter & Eliza Hall Inst. of Medical Research;","institution_ids":["https://openalex.org/I196021976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003881844","display_name":"Aiden Eliot Shearer","orcid":"https://orcid.org/0000-0002-5324-4805","observed_orcids":["https://orcid.org/0000-0002-5324-4805"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Eliot Shearer","raw_affiliation_strings":["Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA","University of Iowa, "],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA","institution_ids":["https://openalex.org/I126307644"]},{"raw_affiliation_string":"University of Iowa, ","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103171587","display_name":"Jennifer Webster","orcid":"https://orcid.org/0009-0006-6641-1234","observed_orcids":["https://orcid.org/0009-0006-6641-1234"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer A. Webster","raw_affiliation_strings":["Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA","Translational Genomics Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I1284308235"]},{"raw_affiliation_string":"Translational Genomics Research Institute","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039362329","display_name":"Hossein Khodaei","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hossein Khodaei","raw_affiliation_strings":["Yazd Welfare Organization, Yazd, Iran","Yazd Welfare Organization"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yazd Welfare Organization, Yazd, Iran","institution_ids":[]},{"raw_affiliation_string":"Yazd Welfare Organization","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030001994","display_name":"Rezvan Abtahi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rezvan Abtahi","raw_affiliation_strings":["Omid Counseling Center, Saveh, Markazi, Iran","Omid Counseling Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Omid Counseling Center, Saveh, Markazi, Iran","institution_ids":[]},{"raw_affiliation_string":"Omid Counseling Center","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033500172","display_name":"Niloofar Bazazzadegan","orcid":"https://orcid.org/0000-0002-5455-272X","observed_orcids":["https://orcid.org/0000-0002-5455-272X"]},"institutions":[{"id":"https://openalex.org/I4210166308","display_name":"University of Social Welfare and Rehabilitation Sciences","ror":"https://ror.org/05jme6y84","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210166308"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Niloofar Bazazzadegan","raw_affiliation_strings":["Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","University of Social Welfare and Rehabilitation Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I4210166308"]},{"raw_affiliation_string":"University of Social Welfare and Rehabilitation Sciences","institution_ids":["https://openalex.org/I4210166308"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061148718","display_name":"Mojgan Babanejad","orcid":"https://orcid.org/0000-0003-2532-4303","observed_orcids":["https://orcid.org/0000-0003-2532-4303"]},"institutions":[{"id":"https://openalex.org/I4210166308","display_name":"University of Social Welfare and Rehabilitation Sciences","ror":"https://ror.org/05jme6y84","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210166308"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mojgan Babanejad","raw_affiliation_strings":["Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","University of Social Welfare and Rehabilitation Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I4210166308"]},{"raw_affiliation_string":"University of Social Welfare and Rehabilitation Sciences","institution_ids":["https://openalex.org/I4210166308"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110455674","display_name":"Nooshin Nikzat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210166308","display_name":"University of Social Welfare and Rehabilitation Sciences","ror":"https://ror.org/05jme6y84","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210166308"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Nooshin Nikzat","raw_affiliation_strings":["Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","University of Social Welfare and Rehabilitation Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I4210166308"]},{"raw_affiliation_string":"University of Social Welfare and Rehabilitation Sciences","institution_ids":["https://openalex.org/I4210166308"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111634190","display_name":"William J. Kimberling","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William J. Kimberling","raw_affiliation_strings":["Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA","Center for Sensory Neuroscience"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA","institution_ids":["https://openalex.org/I4210107141"]},{"raw_affiliation_string":"Center for Sensory Neuroscience","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060670463","display_name":"Dietrich A. Stephan","orcid":"https://orcid.org/0000-0002-0605-2659","observed_orcids":["https://orcid.org/0000-0002-0605-2659"]},"institutions":[{"id":"https://openalex.org/I1284308235","display_name":"Translational Genomics Research Institute","ror":"https://ror.org/02hfpnk21","country_code":"US","type":"facility","lineage":["https://openalex.org/I1284308235"]},{"id":"https://openalex.org/I4387152203","display_name":"Banner Alzheimer\u2019s Institute","ror":"https://ror.org/023jwkg52","country_code":"US","type":"facility","lineage":["https://openalex.org/I2802412784","https://openalex.org/I4387152203"]},{"id":"https://openalex.org/I4387154484","display_name":"Arizona Alzheimer\u2019s Consortium","ror":"https://ror.org/00cvnc278","country_code":"US","type":"other","lineage":["https://openalex.org/I4387154484"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dietrich Stephan","raw_affiliation_strings":["Arizona Alzheimer's Consortium, Phoenix, AZ, USA","Banner Alzheimer's Institute, Phoenix, AZ, USA","Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA","Translational Genomics Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Arizona Alzheimer's Consortium, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I4387154484"]},{"raw_affiliation_string":"Banner Alzheimer's Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I4387152203"]},{"raw_affiliation_string":"Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I1284308235"]},{"raw_affiliation_string":"Translational Genomics Research Institute","institution_ids":["https://openalex.org/I1284308235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088797017","display_name":"Patrick L. M. Huygen","orcid":"https://orcid.org/0000-0003-0141-0215","observed_orcids":["https://orcid.org/0000-0003-0141-0215"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Patrick L. M. Huygen","raw_affiliation_strings":["Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands","Radboud University Nijmegen#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Radboud University Nijmegen#TAB#","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061764650","display_name":"Melanie Bahlo","orcid":"https://orcid.org/0000-0001-5132-0774","observed_orcids":["https://orcid.org/0000-0001-5132-0774"]},"institutions":[{"id":"https://openalex.org/I196021976","display_name":"Walter and Eliza Hall Institute of Medical Research","ror":"https://ror.org/01b6kha49","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I196021976"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Melanie Bahlo","raw_affiliation_strings":["Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia","Walter & Eliza Hall Inst. of Medical Research;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia","institution_ids":["https://openalex.org/I196021976"]},{"raw_affiliation_string":"Walter & Eliza Hall Inst. of Medical Research;","institution_ids":["https://openalex.org/I196021976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014833790","display_name":"Richard J. Smith","orcid":"https://orcid.org/0000-0003-1201-6731","observed_orcids":["https://orcid.org/0000-0003-1201-6731"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Richard J. H. Smith","raw_affiliation_strings":["Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA","Interdepartmental PhD Program in Genetics, Department of Otolaryngology, University of Iowa, Iowa City, Iowa City, IA, USA","University of Iowa, "],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA","institution_ids":["https://openalex.org/I126307644"]},{"raw_affiliation_string":"Interdepartmental PhD Program in Genetics, Department of Otolaryngology, University of Iowa, Iowa City, Iowa City, IA, USA","institution_ids":["https://openalex.org/I126307644"]},{"raw_affiliation_string":"University of Iowa, ","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072741609","display_name":"Hossein Najmabadi","orcid":"https://orcid.org/0000-0002-6084-7778","observed_orcids":["https://orcid.org/0000-0002-6084-7778"]},"institutions":[{"id":"https://openalex.org/I4210166308","display_name":"University of Social Welfare and Rehabilitation Sciences","ror":"https://ror.org/05jme6y84","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210166308"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Hossein Najmabadi","raw_affiliation_strings":["Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","University of Social Welfare and Rehabilitation Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I4210166308"]},{"raw_affiliation_string":"University of Social Welfare and Rehabilitation Sciences","institution_ids":["https://openalex.org/I4210166308"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5014833790","https://openalex.org/A5072741609"],"corresponding_institution_ids":["https://openalex.org/I126307644","https://openalex.org/I4210166308"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":1.2001,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.73633077,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"119","issue":"12","first_page":"830","last_page":"835"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9980000257492065,"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":0.9980000257492065,"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.00039999998989515007,"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"}},{"id":"https://openalex.org/T10283","display_name":"Hearing Loss and Rehabilitation","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/3616","display_name":"Speech and Hearing"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tmc-1","display_name":"TMC-1","score":0.8270000219345093},{"id":"https://openalex.org/keywords/autosomal-recessive-non-syndromic-hearing-loss","display_name":"autosomal recessive non-syndromic hearing loss","score":0.9850000143051147},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.847000002861023},{"id":"https://openalex.org/keywords/iranian-population","display_name":"Iranian population","score":0.7620000243186951},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.9470000267028809},{"id":"https://openalex.org/keywords/novel-deletion-mutation","display_name":"novel deletion mutation","score":0.5879999995231628},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.5329999923706055},{"id":"https://openalex.org/keywords/linkage-mapping","display_name":"linkage mapping","score":0.625},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.4699999988079071}],"concepts":[{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.7856966257095337},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7484664916992188},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5998489260673523},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.584716796875},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.4938081204891205},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.47798222303390503},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46763327717781067},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4088189899921417},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.40385979413986206},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35361605882644653},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.2551467716693878},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.13047820329666138},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D007492","descriptor_name":"Iran","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D034201","descriptor_name":"Computers, Handheld","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D034381","descriptor_name":"Hearing Loss","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D034381","descriptor_name":"Hearing Loss","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1177/000348941011901207","doi":"https://doi.org/10.1177/000348941011901207","is_oa":false,"landing_page_url":"https://doi.org/10.1177/000348941011901207","pdf_url":null,"source":{"id":"https://openalex.org/S174332447","display_name":"Annals of Otology Rhinology & Laryngology","issn_l":"0003-4894","issn":["0003-4894","1943-572X"],"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-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Otology, Rhinology & Laryngology","raw_type":"journal-article"},{"id":"pmid:21250555","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21250555","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 Annals of otology, rhinology, and laryngology","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3058627","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3058627/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Ann Otol Rhinol Laryngol","raw_type":"Text"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/89394","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/89394","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Annals of Otology, Rhinology and Laryngology, 119, 12, pp. 830-5","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/89394","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/89394","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Annals of Otology, Rhinology and Laryngology, 119, 830 - 5","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3058627","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3058627/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Ann Otol Rhinol Laryngol","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6354431145","display_name":"Non-Syndromic Hearing Loss A Collaborative Study","funder_award_id":"R01DC002842","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G8169486174","display_name":"Medical Scientist Training Program","funder_award_id":"T32GM007337","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1968214290","https://openalex.org/W1974935915","https://openalex.org/W1981511407","https://openalex.org/W1994379905","https://openalex.org/W1996777571","https://openalex.org/W2001987761","https://openalex.org/W2033163989","https://openalex.org/W2052297324","https://openalex.org/W2061596706","https://openalex.org/W2082667944","https://openalex.org/W2091199014","https://openalex.org/W2094187594","https://openalex.org/W2095371339","https://openalex.org/W2106760395","https://openalex.org/W2119268652","https://openalex.org/W2138261854","https://openalex.org/W2148291968"],"related_works":["https://openalex.org/W2256142107","https://openalex.org/W2326253880","https://openalex.org/W1968214290","https://openalex.org/W1994379905","https://openalex.org/W1978812761","https://openalex.org/W1966483876","https://openalex.org/W2995666059","https://openalex.org/W2946682430","https://openalex.org/W2907185613","https://openalex.org/W4387522055"],"abstract_inverted_index":{"OBJECTIVES:":[0],"We":[1],"investigated":[2],"the":[3,58,77,97,104,111,161,166],"cause":[4],"of":[5,29,151,163,165],"autosomal":[6],"recessive":[7,39],"nonsyndromic":[8],"hearing":[9,119,132,153],"loss":[10,154],"(ARNSHL)":[11],"that":[12,74,145],"segregated":[13,116],"in":[14,61,96,108,122,155],"2":[15,66,112],"consanguineous":[16],"Iranian":[17,67,113],"families.":[18],"METHODS:":[19],"Otologic":[20],"and":[21,70,88],"audiometric":[22],"examinations":[23],"were":[24,94],"performed":[25,42],"on":[26],"affected":[27,126],"members":[28],"each":[30,62],"family.":[31,63],"Genome-wide":[32],"parametric":[33],"multipoint":[34],"linkage":[35],"mapping":[36],"using":[37],"a":[38,82,89,137,148],"model":[40],"was":[41,54],"with":[43,72,103],"Affymetrix":[44],"50K":[45],"GeneChips":[46],"or":[47],"short":[48],"tandem":[49],"repeat":[50],"polymorphisms.":[51],"Direct":[52],"sequencing":[53],"used":[55],"to":[56,76],"confirm":[57],"causative":[59],"mutation":[60,86],"RESULTS:":[64],"In":[65],"families,":[68,110],"L-1651":[69],"L-8600606,":[71],"ARNSHL":[73],"mapped":[75],"DFNB7/11":[78,109,146],"locus,":[79],"homozygosity":[80],"for":[81],"reported":[83,106,170],"splice":[84],"site":[85],"(c.776+1G>A),":[87],"novel":[90],"deletion":[91],"(c.1589_1590delCT;":[92],"p.S530*)":[93],"identified":[95],"TMC1":[98,168],"gene,":[99],"respectively.":[100],"CONCLUSIONS:":[101],"Consistent":[102],"previously":[105],"phenotype":[107],"families":[114],"had":[115],"congenital,":[117],"profound":[118],"impairment.":[120],"However,":[121],"family":[123,127],"L-1651,":[124],"one":[125],"member":[128],"(IV:3)":[129],"has":[130],"milder":[131],"impairment":[133],"than":[134],"expected,":[135],"suggesting":[136],"potential":[138],"genetic":[139,152],"modifier":[140],"effect.":[141],"These":[142],"results":[143],"indicate":[144],"is":[147,160],"common":[149],"form":[150],"Iran,":[156],"because":[157],"this":[158],"population":[159],"source":[162],"6":[164],"29":[167],"mutations":[169],"worldwide.":[171]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}