{"id":"https://openalex.org/W2731352201","doi":"https://doi.org/10.1016/j.ijporl.2017.07.007","title":"The first sporadic case of DFNA11 identified by next-generation sequencing","display_name":"The first sporadic case of DFNA11 identified by next-generation sequencing","publication_year":2017,"publication_date":"2017-07-09","ids":{"openalex":"https://openalex.org/W2731352201","doi":"https://doi.org/10.1016/j.ijporl.2017.07.007","mag":"2731352201","pmid":"https://pubmed.ncbi.nlm.nih.gov/28802369"},"language":"en","primary_location":{"id":"doi:10.1016/j.ijporl.2017.07.007","doi":"https://doi.org/10.1016/j.ijporl.2017.07.007","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ijporl.2017.07.007","pdf_url":null,"source":{"id":"https://openalex.org/S200672447","display_name":"International Journal of Pediatric Otorhinolaryngology","issn_l":"0165-5876","issn":["0165-5876","1872-8464"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Pediatric Otorhinolaryngology","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/A5020780735","display_name":"Yuka Kaneko","orcid":"https://orcid.org/0000-0002-4838-0132","observed_orcids":["https://orcid.org/0000-0002-4838-0132","https://orcid.org/0009-0009-5136-1184"]},"institutions":[{"id":"https://openalex.org/I4210139339","display_name":"Japanese Red Cross Narita Hospital","ror":"https://ror.org/04prxcf74","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210139339"]},{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuka Kaneko","raw_affiliation_strings":["Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan; Department of Otolaryngology, Japanese Red Cross Narita Hospital, 90-1, Iida Town, Narita City, Chiba, Japan","Department of Otolaryngology, Japanese Red Cross Narita Hospital, 90-1, Iida Town, Narita City, Chiba, Japan","Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan; Department of Otolaryngology, Japanese Red Cross Narita Hospital, 90-1, Iida Town, Narita City, Chiba, Japan","institution_ids":["https://openalex.org/I4210139339","https://openalex.org/I4405253373"]},{"raw_affiliation_string":"Department of Otolaryngology, Japanese Red Cross Narita Hospital, 90-1, Iida Town, Narita City, Chiba, Japan","institution_ids":["https://openalex.org/I4210139339"]},{"raw_affiliation_string":"Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016592037","display_name":"Atsuko Nakano","orcid":"https://orcid.org/0000-0002-0623-8680","observed_orcids":["https://orcid.org/0000-0002-0623-8680"]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Atsuko Nakano","raw_affiliation_strings":["Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070913300","display_name":"Yukiko Arimoto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405253373","display_name":"Chiba Children's Hospital","ror":"https://ror.org/00khjyb83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405253373"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yukiko Arimoto","raw_affiliation_strings":["Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, Chiba City, Chiba, Japan","institution_ids":["https://openalex.org/I4405253373"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041968764","display_name":"Kiyomitsu Nara","orcid":"https://orcid.org/0000-0001-9086-5873","observed_orcids":["https://orcid.org/0000-0001-9086-5873"]},"institutions":[{"id":"https://openalex.org/I4210094747","display_name":"Tokyo Medical Center","ror":"https://ror.org/005xkwy83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kiyomitsu Nara","raw_affiliation_strings":["Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan","institution_ids":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070921584","display_name":"Hideki Mutai","orcid":"https://orcid.org/0000-0002-3155-8387","observed_orcids":["https://orcid.org/0000-0002-3155-8387"]},"institutions":[{"id":"https://openalex.org/I4210094747","display_name":"Tokyo Medical Center","ror":"https://ror.org/005xkwy83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideki Mutai","raw_affiliation_strings":["Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan","institution_ids":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043896212","display_name":"Tatsuo Matsunaga","orcid":"https://orcid.org/0000-0001-9647-1496","observed_orcids":["https://orcid.org/0000-0001-9647-1496"]},"institutions":[{"id":"https://openalex.org/I4210094747","display_name":"Tokyo Medical Center","ror":"https://ror.org/005xkwy83","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]},{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Tatsuo Matsunaga","raw_affiliation_strings":["Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan. Electronic address: matsunagatatsuo@kankakuki.go.jp","Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan"],"raw_orcid":"https://orcid.org/0000-0001-9647-1496","affiliations":[{"raw_affiliation_string":"Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan. Electronic address: matsunagatatsuo@kankakuki.go.jp","institution_ids":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]},{"raw_affiliation_string":"Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152\u20128902, Japan","institution_ids":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5043896212"],"corresponding_institution_ids":["https://openalex.org/I4210094747","https://openalex.org/I4210137409"],"apc_list":{"value":3490,"currency":"USD","value_usd":3490},"apc_paid":null,"fwci":0.4886,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.5690367,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"100","issue":null,"first_page":"183","last_page":"186"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9945999979972839,"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":0.9945999979972839,"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":0.0007999999797903001,"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/T10542","display_name":"Vestibular and auditory disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/myosin-viia","display_name":"MYO7A","score":0.9789999723434448},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.9430000185966492},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.9580000042915344},{"id":"https://openalex.org/keywords/children-with-hearing-impairment","display_name":"hearing-impaired children","score":0.6460000276565552}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8722188472747803},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.740690290927887},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.6771552562713623},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6495145559310913},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6304205656051636},{"id":"https://openalex.org/C2780607864","wikidata":"https://www.wikidata.org/wiki/Q928697","display_name":"Sensorineural hearing loss","level":3,"score":0.5711392760276794},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4118674397468567},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.2998828887939453},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22260987758636475},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.08576017618179321}],"mesh":[{"descriptor_ui":"D000081412","descriptor_name":"Myosin VIIa","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":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"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":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ijporl.2017.07.007","doi":"https://doi.org/10.1016/j.ijporl.2017.07.007","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ijporl.2017.07.007","pdf_url":null,"source":{"id":"https://openalex.org/S200672447","display_name":"International Journal of Pediatric Otorhinolaryngology","issn_l":"0165-5876","issn":["0165-5876","1872-8464"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Pediatric Otorhinolaryngology","raw_type":"journal-article"},{"id":"pmid:28802369","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28802369","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":"International journal of pediatric otorhinolaryngology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1968852642","https://openalex.org/W2004588532","https://openalex.org/W2015405656","https://openalex.org/W2023454493","https://openalex.org/W2034223507","https://openalex.org/W2038825165","https://openalex.org/W2067434576","https://openalex.org/W2070644160","https://openalex.org/W2087015420","https://openalex.org/W2089787897","https://openalex.org/W2092670526","https://openalex.org/W2092890929","https://openalex.org/W2097193502","https://openalex.org/W2106929137","https://openalex.org/W2122271631","https://openalex.org/W2124892679","https://openalex.org/W2127126837","https://openalex.org/W2132437664","https://openalex.org/W2147490023","https://openalex.org/W2147508175","https://openalex.org/W2162903822","https://openalex.org/W2169553740","https://openalex.org/W2313242935"],"related_works":["https://openalex.org/W2789344870","https://openalex.org/W4315620081","https://openalex.org/W4281663843","https://openalex.org/W2029340310","https://openalex.org/W3027563844","https://openalex.org/W3009940298","https://openalex.org/W2004588532","https://openalex.org/W2023454493","https://openalex.org/W3042890478","https://openalex.org/W2101908165"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-07-14T00:00:00"}
