{"id":"https://openalex.org/W201814016","doi":"https://doi.org/10.1016/j.jmoldx.2014.06.003","title":"Comprehensive Diagnostic Testing for Stereocilin","display_name":"Comprehensive Diagnostic Testing for Stereocilin","publication_year":2014,"publication_date":"2014-08-23","ids":{"openalex":"https://openalex.org/W201814016","doi":"https://doi.org/10.1016/j.jmoldx.2014.06.003","mag":"201814016","pmid":"https://pubmed.ncbi.nlm.nih.gov/25157971"},"language":"en","primary_location":{"id":"doi:10.1016/j.jmoldx.2014.06.003","doi":"https://doi.org/10.1016/j.jmoldx.2014.06.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jmoldx.2014.06.003","pdf_url":"http://www.jmdjournal.org/article/S1525157814001275/pdf","source":{"id":"https://openalex.org/S48180145","display_name":"Journal of Molecular Diagnostics","issn_l":"1525-1578","issn":["1525-1578","1943-7811"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","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":"The Journal of Molecular Diagnostics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jmdjournal.org/article/S1525157814001275/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062778506","display_name":"Diana L. Mandelker","orcid":"https://orcid.org/0000-0003-4154-0567","observed_orcids":["https://orcid.org/0000-0003-4154-0567"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diana Mandelker","raw_affiliation_strings":["Department of Pathology, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037349528","display_name":"Sami Samir Amr","orcid":"https://orcid.org/0000-0003-0927-6057","observed_orcids":["https://orcid.org/0000-0003-0927-6057"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sami S. Amr","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072207500","display_name":"Trevor J. Pugh","orcid":"https://orcid.org/0000-0002-8073-5888","observed_orcids":["https://orcid.org/0000-0002-8073-5888"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Trevor Pugh","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110458542","display_name":"Sivakumar Gowrisankar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sivakumar Gowrisankar","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067320046","display_name":"Rimma Shakhbatyan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rimma Shakhbatyan","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067494801","display_name":"Elizabeth Duffy Hynes","orcid":"https://orcid.org/0000-0002-3817-2145","observed_orcids":["https://orcid.org/0000-0002-3817-2145"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elizabeth Duffy","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028742598","display_name":"Mark Bowser","orcid":"https://orcid.org/0000-0002-7801-1485","observed_orcids":["https://orcid.org/0000-0002-7801-1485"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark Bowser","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Bryan Harrison","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bryan Harrison","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014588541","display_name":"Katherine A Lafferty","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Katherine Lafferty","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074768707","display_name":"Lisa Mahanta","orcid":"https://orcid.org/0000-0003-0422-5840","observed_orcids":["https://orcid.org/0000-0003-0422-5840"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lisa Mahanta","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014144046","display_name":"Heidi L. Rehm","orcid":"https://orcid.org/0000-0002-6025-0015","observed_orcids":["https://orcid.org/0000-0002-6025-0015"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heidi L. Rehm","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082601374","display_name":"Birgit Funke","orcid":"https://orcid.org/0000-0001-6643-3640","observed_orcids":["https://orcid.org/0000-0001-6643-3640"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Birgit H. Funke","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: bfunke@partners.org","Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts","Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: bfunke@partners.org","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5082601374"],"corresponding_institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":2.6689,"has_fulltext":true,"cited_by_count":68,"citation_normalized_percentile":{"value":0.87756699,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"16","issue":"6","first_page":"639","last_page":"647"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.5942000150680542,"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":0.5942000150680542,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.36469998955726624,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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":0.006099999882280827,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/long-range-pcr","display_name":"long-range PCR","score":0.6610000133514404},{"id":"https://openalex.org/keywords/biallelic-mutations","display_name":"biallelic variants","score":0.8069999814033508}],"concepts":[{"id":"https://openalex.org/C34957205","wikidata":"https://www.wikidata.org/wiki/Q277338","display_name":"Pseudogene","level":4,"score":0.8658081889152527},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6765331029891968},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.629607617855072},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6057068109512329},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5476528406143188},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4906665086746216},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4520242214202881},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4514162540435791},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.44134026765823364},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.4268394708633423},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2488720417022705},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21339860558509827},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017421","descriptor_name":"Sequence Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D034381","descriptor_name":"Hearing Loss","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D036341","descriptor_name":"Intercellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.jmoldx.2014.06.003","doi":"https://doi.org/10.1016/j.jmoldx.2014.06.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jmoldx.2014.06.003","pdf_url":"http://www.jmdjournal.org/article/S1525157814001275/pdf","source":{"id":"https://openalex.org/S48180145","display_name":"Journal of Molecular Diagnostics","issn_l":"1525-1578","issn":["1525-1578","1943-7811"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","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":"The Journal of Molecular Diagnostics","raw_type":"journal-article"},{"id":"pmid:25157971","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25157971","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 Journal of molecular diagnostics : JMD","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1016/j.jmoldx.2014.06.003","doi":"https://doi.org/10.1016/j.jmoldx.2014.06.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jmoldx.2014.06.003","pdf_url":"http://www.jmdjournal.org/article/S1525157814001275/pdf","source":{"id":"https://openalex.org/S48180145","display_name":"Journal of Molecular Diagnostics","issn_l":"1525-1578","issn":["1525-1578","1943-7811"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","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":"The Journal of Molecular Diagnostics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W201814016.pdf","grobid_xml":"https://content.openalex.org/works/W201814016.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W1565827052","https://openalex.org/W1964963969","https://openalex.org/W1972730151","https://openalex.org/W1977300744","https://openalex.org/W1977427979","https://openalex.org/W1980598382","https://openalex.org/W2001452730","https://openalex.org/W2001493273","https://openalex.org/W2023275648","https://openalex.org/W2025168060","https://openalex.org/W2034584887","https://openalex.org/W2044794783","https://openalex.org/W2055023075","https://openalex.org/W2055153761","https://openalex.org/W2057152418","https://openalex.org/W2068701558","https://openalex.org/W2140020262","https://openalex.org/W2145922766","https://openalex.org/W2146272590","https://openalex.org/W2158761669"],"related_works":["https://openalex.org/W2092861707","https://openalex.org/W3126930490","https://openalex.org/W7168087169","https://openalex.org/W4404130332","https://openalex.org/W2072022217","https://openalex.org/W2783850891","https://openalex.org/W2497015276","https://openalex.org/W2580321861","https://openalex.org/W2621651020","https://openalex.org/W6908866695"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
