{"id":"https://openalex.org/W2007709221","doi":"https://doi.org/10.1089/gtmb.2008.0077","title":"Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus","display_name":"Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus","publication_year":2009,"publication_date":"2009-02-01","ids":{"openalex":"https://openalex.org/W2007709221","doi":"https://doi.org/10.1089/gtmb.2008.0077","mag":"2007709221","pmid":"https://pubmed.ncbi.nlm.nih.gov/19309289"},"language":"en","primary_location":{"id":"doi:10.1089/gtmb.2008.0077","doi":"https://doi.org/10.1089/gtmb.2008.0077","is_oa":false,"landing_page_url":"https://doi.org/10.1089/gtmb.2008.0077","pdf_url":null,"source":{"id":"https://openalex.org/S96572642","display_name":"Genetic Testing and Molecular Biomarkers","issn_l":"1945-0257","issn":["1945-0257","1945-0265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing and Molecular Biomarkers","raw_type":"journal-article"},"volume":null,"type":"article","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/A5057804290","display_name":"Hanen Belguith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Hanen Belguith","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002656111","display_name":"Mounira Hmani\u2010Aifa","orcid":"https://orcid.org/0000-0003-2422-1775","observed_orcids":["https://orcid.org/0000-0003-2422-1775"]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Mounira Aifa-Hmani","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112166109","display_name":"Houria Dhouib","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165772","display_name":"Hopital Universitaire Habib Bourguiba","ror":"https://ror.org/052g5ww90","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210165772"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Houria Dhouib","raw_affiliation_strings":["C.H.U.H. Bourguiba de Sfax, Sfax","Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U.H. Bourguiba de Sfax, Sfax","institution_ids":["https://openalex.org/I4210165772"]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007059356","display_name":"Mariem Ben Sa\u00efd","orcid":"https://orcid.org/0000-0003-4098-4537","observed_orcids":["https://orcid.org/0000-0003-4098-4537"]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Mariem Ben Said","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087804629","display_name":"Mohamed Ali Mosrati","orcid":"https://orcid.org/0000-0001-9663-9885","observed_orcids":["https://orcid.org/0000-0001-9663-9885"]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Mohamed Ali Mosrati","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022577183","display_name":"Imed Lahmar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Imed Lahmar","raw_affiliation_strings":["C.H.U. de Mahdia","Service d'O.R.L., C.H.U. de Mahdia, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U. de Mahdia","institution_ids":[]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U. de Mahdia, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029168179","display_name":"Jihen Moalla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165772","display_name":"Hopital Universitaire Habib Bourguiba","ror":"https://ror.org/052g5ww90","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210165772"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Jihen Moalla","raw_affiliation_strings":["C.H.U.H. Bourguiba de Sfax, Sfax","Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U.H. Bourguiba de Sfax, Sfax","institution_ids":["https://openalex.org/I4210165772"]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020298621","display_name":"Ilhem Charfeddine","orcid":"https://orcid.org/0000-0002-4418-584X","observed_orcids":["https://orcid.org/0000-0002-4418-584X"]},"institutions":[{"id":"https://openalex.org/I4210165772","display_name":"Hopital Universitaire Habib Bourguiba","ror":"https://ror.org/052g5ww90","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210165772"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Ilhem Charfeddine","raw_affiliation_strings":["C.H.U.H. Bourguiba de Sfax, Sfax","Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U.H. Bourguiba de Sfax, Sfax","institution_ids":["https://openalex.org/I4210165772"]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070538099","display_name":"Nabil Driss","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nabil Driss","raw_affiliation_strings":["C.H.U. de Mahdia","Service d'O.R.L., C.H.U. de Mahdia, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U. de Mahdia","institution_ids":[]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U. de Mahdia, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108772894","display_name":"Sa\u00efda Ben Arab","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I108714496","display_name":"Tunis University","ror":"https://ror.org/02q1spa57","country_code":"TN","type":"education","lineage":["https://openalex.org/I108714496"]},{"id":"https://openalex.org/I4403386600","display_name":"Facult\u00e9 de m\u00e9decine de Tunis","ror":"https://ror.org/03pyhhg10","country_code":null,"type":"education","lineage":["https://openalex.org/I4403386600","https://openalex.org/I63596082"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Saida Ben Arab","raw_affiliation_strings":["Facult\u00e9 de M\u00e9decine, Tunis","Unit\u00e9 d'Epid\u00e9miologie G\u00e9n\u00e9tique et Mol\u00e9culaire, Facult\u00e9 de M\u00e9decine, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Facult\u00e9 de M\u00e9decine, Tunis","institution_ids":["https://openalex.org/I108714496","https://openalex.org/I4403386600"]},{"raw_affiliation_string":"Unit\u00e9 d'Epid\u00e9miologie G\u00e9n\u00e9tique et Mol\u00e9culaire, Facult\u00e9 de M\u00e9decine, Tunis, Tunisia","institution_ids":["https://openalex.org/I108714496","https://openalex.org/I4403386600"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070875378","display_name":"Abdelmonem Ghorbel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165772","display_name":"Hopital Universitaire Habib Bourguiba","ror":"https://ror.org/052g5ww90","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210165772"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Abdelmonem Ghorbel","raw_affiliation_strings":["C.H.U.H. Bourguiba de Sfax, Sfax","Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"C.H.U.H. Bourguiba de Sfax, Sfax","institution_ids":["https://openalex.org/I4210165772"]},{"raw_affiliation_string":"Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105986987","display_name":"Hammadi Ayadi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Hammadi Ayadi","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033955289","display_name":"Saber Masmoudi","orcid":"https://orcid.org/0000-0002-1076-5256","observed_orcids":["https://orcid.org/0000-0002-1076-5256"]},"institutions":[{"id":"https://openalex.org/I4210162466","display_name":"Centre of Biotechnology of Sfax","ror":"https://ror.org/05acynk65","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210162466"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"Saber Masmoudi","raw_affiliation_strings":["Centre de Biotechnologie de Sfax","Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Biotechnologie de Sfax","institution_ids":["https://openalex.org/I4210162466"]},{"raw_affiliation_string":"Unit\u00e9 Cibles pour le Diagnostic et la Th\u00e9rapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210162466"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5033955289"],"corresponding_institution_ids":["https://openalex.org/I4210162466"],"apc_list":null,"apc_paid":null,"fwci":1.3375,"has_fulltext":false,"cited_by_count":39,"citation_normalized_percentile":{"value":0.77590361,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"13","issue":"1","first_page":"147","last_page":"151"},"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":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T11285","display_name":"Hearing Impairment and Communication","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/3204","display_name":"Developmental and Educational Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/myo15a","display_name":"MYO15A","score":0.9829999804496765},{"id":"https://openalex.org/keywords/non-syndromic-hearing-loss","display_name":"non-syndromic hearing loss","score":0.9139999747276306},{"id":"https://openalex.org/keywords/recessive-deafness","display_name":"recessive deafness","score":0.9610000252723694},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7440000176429749},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9570000171661377},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.9929999709129333},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.7799999713897705},{"id":"https://openalex.org/keywords/tunisian-family","display_name":"Tunisian family","score":0.7730000019073486}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8495428562164307},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7476282119750977},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6901274919509888},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6856580376625061},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5530338287353516},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4613715410232544},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.4183833599090576},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.36237186193466187},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.1907019317150116}],"mesh":[{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","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":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1089/gtmb.2008.0077","doi":"https://doi.org/10.1089/gtmb.2008.0077","is_oa":false,"landing_page_url":"https://doi.org/10.1089/gtmb.2008.0077","pdf_url":null,"source":{"id":"https://openalex.org/S96572642","display_name":"Genetic Testing and Molecular Biomarkers","issn_l":"1945-0257","issn":["1945-0257","1945-0265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing and Molecular Biomarkers","raw_type":"journal-article"},{"id":"pmid:19309289","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19309289","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":"Genetic testing and molecular biomarkers","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1604929717","https://openalex.org/W1968214290","https://openalex.org/W1971041908","https://openalex.org/W1974935915","https://openalex.org/W1986953863","https://openalex.org/W1988215545","https://openalex.org/W1991259792","https://openalex.org/W1997079461","https://openalex.org/W2011355532","https://openalex.org/W2019924758","https://openalex.org/W2039594053","https://openalex.org/W2052297324","https://openalex.org/W2052996255","https://openalex.org/W2054422505","https://openalex.org/W2057343637","https://openalex.org/W2079678929","https://openalex.org/W2095371339","https://openalex.org/W2113698960","https://openalex.org/W2118600301","https://openalex.org/W2130986890","https://openalex.org/W2131130409","https://openalex.org/W2131434998","https://openalex.org/W2142626694","https://openalex.org/W2170677828","https://openalex.org/W2171984934"],"related_works":["https://openalex.org/W2083833254","https://openalex.org/W1978448871","https://openalex.org/W2068962637","https://openalex.org/W1995725827","https://openalex.org/W2082856106","https://openalex.org/W1973164572","https://openalex.org/W1988731563","https://openalex.org/W2608025469","https://openalex.org/W2289108004","https://openalex.org/W2070709105"],"abstract_inverted_index":{"Recessive":[0],"mutations":[1,113],"of":[2,30,40,54,60,86,114],"MYO15A":[3,20,55],"are":[4,124],"associated":[5],"with":[6],"nonsyndromic":[7],"hearing":[8],"loss":[9],"(HL)":[10],"in":[11,15,47,69,77,94,103],"humans":[12],"(DFNB3)":[13],"and":[14,24,72,98,116],"the":[16,58,95,104,120,129],"shaker-2":[17],"mouse.":[18],"Human":[19],"has":[21],"66":[22],"exons":[23],"encodes":[25],"unconventional":[26],"myosin":[27],"XVA.":[28],"Analysis":[29],"77":[31],"Tunisian":[32],"consanguineous":[33],"families":[34],"segregating":[35],"recessive":[36],"deafness":[37],"revealed":[38],"evidence":[39],"linkage":[41],"to":[42,57],"microsatellite":[43],"markers":[44],"for":[45],"DFNB3":[46,130],"four":[48],"families.":[49],"In":[50,107],"two":[51,61,125],"families,":[52],"sequencing":[53],"led":[56],"identification":[59],"novel":[62,84,112],"homozygous":[63],"mutations:":[64],"a":[65,73],"nonsense":[66],"(c.4998C>A":[67],"(p.C1666X)":[68],"exon":[70],"17":[71],"splice":[74],"site":[75],"mutation":[76,85,100],"intron":[78],"54":[79],"(c.9229":[80],"+":[81,90],"1G>A).":[82],"A":[83],"unknown":[87],"significance,":[88],"c.7395":[89],"3G>C,":[91],"was":[92,101],"identified":[93],"third":[96],"family,":[97],"no":[99],"found":[102],"fourth":[105],"family.":[106],"conclusion,":[108],"we":[109],"discovered":[110],"three":[111],"MYO15A,":[115],"our":[117],"data":[118],"suggest":[119],"possibility":[121],"that":[122],"there":[123],"distinct":[126],"genes":[127],"at":[128],"locus.":[131]},"counts_by_year":[{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2016-06-24T00:00:00"}