{"id":"https://openalex.org/W3116740779","doi":"https://doi.org/10.1515/medgen-2020-2018","title":"Expert interpretation of genes and variants in hereditary hearing loss","display_name":"Expert interpretation of genes and variants in hereditary hearing loss","publication_year":2020,"publication_date":"2020-08-01","ids":{"openalex":"https://openalex.org/W3116740779","doi":"https://doi.org/10.1515/medgen-2020-2018","mag":"3116740779"},"language":"en","primary_location":{"id":"doi:10.1515/medgen-2020-2018","doi":"https://doi.org/10.1515/medgen-2020-2018","is_oa":true,"landing_page_url":"https://doi.org/10.1515/medgen-2020-2018","pdf_url":null,"source":{"id":"https://openalex.org/S182554291","display_name":"Medizinische Genetik","issn_l":"0936-5931","issn":["0936-5931","1863-5490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medizinische Genetik","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1515/medgen-2020-2018","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021940035","display_name":"Marina T. DiStefano","orcid":"https://orcid.org/0000-0002-8218-5111","observed_orcids":["https://orcid.org/0000-0002-8218-5111"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I48633490","display_name":"Mass General Brigham","ror":"https://ror.org/04py2rh25","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marina T. DiStefano","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine , Cambridge , MA , USA","The Broad Institute of MIT and Harvard , Cambridge , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine , Cambridge , MA , USA","institution_ids":["https://openalex.org/I48633490"]},{"raw_affiliation_string":"The Broad Institute of MIT and Harvard , Cambridge , MA , USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060855977","display_name":"Madeline Y. Hughes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Madeline Y. Hughes","raw_affiliation_strings":["The Broad Institute of MIT and Harvard , Cambridge , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Broad Institute of MIT and Harvard , Cambridge , MA , USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109484140","display_name":"Mayher J. Patel","orcid":"https://orcid.org/0009-0002-2211-1126","observed_orcids":["https://orcid.org/0009-0002-2211-1126"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mayher J. Patel","raw_affiliation_strings":["The Broad Institute of MIT and Harvard , Cambridge , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Broad Institute of MIT and Harvard , Cambridge , MA , USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035538920","display_name":"Emma H. Wilcox","orcid":"https://orcid.org/0000-0003-4972-2947","observed_orcids":["https://orcid.org/0000-0003-4972-2947"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emma H. Wilcox","raw_affiliation_strings":["The Broad Institute of MIT and Harvard , Cambridge , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Broad Institute of MIT and Harvard , Cambridge , MA , USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017058654","display_name":"Andrea M. Oza","orcid":"https://orcid.org/0000-0003-3125-7119","observed_orcids":["https://orcid.org/0000-0003-3125-7119"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Andrea M. Oza","raw_affiliation_strings":["Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine , 65 Landsdowne Street Suite 350 , Cambridge , MA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine , 65 Landsdowne Street Suite 350 , Cambridge , MA , USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5017058654"],"corresponding_institution_ids":[],"apc_list":{"value":2240,"currency":"EUR","value_usd":2760},"apc_paid":{"value":2240,"currency":"EUR","value_usd":2760},"fwci":0.7313,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.6940911,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":96},"biblio":{"volume":"32","issue":"2","first_page":"109","last_page":"115"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5590999722480774,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5590999722480774,"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.42410001158714294,"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/T10283","display_name":"Hearing Loss and Rehabilitation","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"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/hereditary-hearing-loss","display_name":"hereditary hearing loss","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.7670000195503235},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.7879999876022339},{"id":"https://openalex.org/keywords/acmg-amp-guidelines","display_name":"ACMG/AMP guidelines","score":0.9520000219345093},{"id":"https://openalex.org/keywords/non-syndromic-hearing-loss","display_name":"non-syndromic hearing loss","score":0.8939999938011169},{"id":"https://openalex.org/keywords/gjb2","display_name":"GJB2","score":0.8820000290870667},{"id":"https://openalex.org/keywords/clinvar","display_name":"ClinVar","score":0.8209999799728394},{"id":"https://openalex.org/keywords/data-sharing","display_name":"data sharing","score":0.5559999942779541}],"concepts":[{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6512823104858398},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.6379191875457764},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6001334190368652},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.5725899934768677},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5514225363731384},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4679122567176819},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.45647934079170227},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42463985085487366},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3802414536476135},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37623274326324463},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.33981436491012573},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.228555828332901},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20380869507789612},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16957756876945496},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.14293375611305237},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.11986997723579407}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1515/medgen-2020-2018","doi":"https://doi.org/10.1515/medgen-2020-2018","is_oa":true,"landing_page_url":"https://doi.org/10.1515/medgen-2020-2018","pdf_url":null,"source":{"id":"https://openalex.org/S182554291","display_name":"Medizinische Genetik","issn_l":"0936-5931","issn":["0936-5931","1863-5490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medizinische Genetik","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1515/medgen-2020-2018","doi":"https://doi.org/10.1515/medgen-2020-2018","is_oa":true,"landing_page_url":"https://doi.org/10.1515/medgen-2020-2018","pdf_url":null,"source":{"id":"https://openalex.org/S182554291","display_name":"Medizinische Genetik","issn_l":"0936-5931","issn":["0936-5931","1863-5490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medizinische Genetik","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1496194816","https://openalex.org/W1644197353","https://openalex.org/W1979229570","https://openalex.org/W1981153350","https://openalex.org/W2011217581","https://openalex.org/W2039686145","https://openalex.org/W2051978340","https://openalex.org/W2063509011","https://openalex.org/W2065019964","https://openalex.org/W2120036709","https://openalex.org/W2133950415","https://openalex.org/W2141036744","https://openalex.org/W2163451904","https://openalex.org/W2164177053","https://openalex.org/W2265930544","https://openalex.org/W2544329343","https://openalex.org/W2589261281","https://openalex.org/W2595455619","https://openalex.org/W2767468740","https://openalex.org/W2911570453","https://openalex.org/W2922303294","https://openalex.org/W2951101345","https://openalex.org/W2951843383","https://openalex.org/W2952683165"],"related_works":["https://openalex.org/W3177891453","https://openalex.org/W2952683165","https://openalex.org/W2911570453","https://openalex.org/W3094558604","https://openalex.org/W4286494966","https://openalex.org/W6991311090","https://openalex.org/W4395035292","https://openalex.org/W7222967410","https://openalex.org/W3194624336","https://openalex.org/W2265930544"],"abstract_inverted_index":{"Abstract":[0],"Background:":[1],"Hearing":[2,79,138],"loss":[3,94],"(HL)":[4],"is":[5,27],"the":[6,32,60,63,69,77,99,105,109,119,133,136,161,191,220,247],"most":[7],"common":[8],"sensory":[9],"deficit":[10],"from":[11,156,175],"birth,":[12],"with":[13,87,91,104,114,129,179],"at":[14],"least":[15],"50":[16],"%":[17],"due":[18],"to":[19,31,189,197,242],"an":[20,232],"underlying":[21],"genetic":[22,25,39,56,92,110],"etiology.":[23],"A":[24],"evaluation":[26],"a":[28,38,55,169],"recommended":[29],"component":[30],"medical":[33,43],"workup":[34],"for":[35],"HL,":[36],"and":[37,45,48,85,95,121,126,141,147,150,165,177,183,196,224,238,245],"diagnosis":[40,57,111],"can":[41,252],"impact":[42,248],"management":[44],"provide":[46],"prognostic":[47],"recurrence":[49],"risk":[50],"information.":[51],"The":[52,203,212],"accuracy":[53],"of":[54,98,107,112,124,135],"relies":[58],"on":[59,168,254],"evidence":[61,70],"supporting":[62,71],"gene\u2013disease":[64,210],"relationship,":[65],"as":[66,68,231],"well":[67],"individual":[72],"variant":[73,101,193],"classifications.":[74],"As":[75],"such,":[76],"ClinGen":[78,137,204],"Loss":[80,139],"Working":[81],"Group":[82],"was":[83],"formed":[84],"tasked":[86],"curating":[88],"genes":[89,125,153],"associated":[90,128],"hearing":[93],"developing":[96],"specifications":[97],"ACMG/AMP":[100],"interpretation":[102,194],"guidelines":[103,195],"goal":[106],"improving":[108],"patients":[113],"HL.":[115],"Objectives:":[116],"To":[117],"describe":[118],"prioritization":[120],"expert":[122],"curation":[123],"variants":[127,226],"HL":[130,152,205,213],"performed":[131],"under":[132],"purview":[134],"Gene":[140],"Variant":[142],"Expert":[143],"Panels":[144],"(HL":[145],"GCEP":[146,206],"VCEP).":[148],"Materials":[149],"methods:":[151],"were":[154,173,187,240],"taken":[155,174],"clinical":[157],"testing":[158],"panels":[159],"in":[160,227],"Genetic":[162],"Testing":[163],"Registry":[164],"prioritized":[166,188],"based":[167],"nonsyndromic":[170],"presentation.":[171],"Variants":[172],"ClinVar":[176],"those":[178],"diverse":[180],"data":[181,250],"types":[182],"medically":[184],"significant":[185],"conflicts":[186],"test":[190],"specified":[192],"resolve":[198],"classification":[199],"discrepancies,":[200],"respectively.":[201],"Conclusions:":[202],"has":[207,215],"curated":[208],"174":[209],"pairs.":[211],"VCEP":[214],"submitted":[216],"77":[217],"variants,":[218],"including":[219],"previously":[221],"controversial":[222],"p.Met34Thr":[223],"p.Val37Ile":[225],"GJB2,":[228],"into":[229],"ClinVar,":[230],"FDA-recognized":[233],"database.":[234],"Collaboration":[235],"across":[236],"clinics":[237],"laboratories":[239],"crucial":[241],"these":[243],"curations":[244],"highlight":[246],"that":[249],"sharing":[251],"have":[253],"patient":[255],"care.":[256]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2021-01-05T00:00:00"}