{"id":"https://openalex.org/W2030719670","doi":"https://doi.org/10.1086/302890","title":"Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications","display_name":"Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications","publication_year":2000,"publication_date":"2000-05-01","ids":{"openalex":"https://openalex.org/W2030719670","doi":"https://doi.org/10.1086/302890","mag":"2030719670","pmid":"https://pubmed.ncbi.nlm.nih.gov/10762556","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1378029"},"language":"en","primary_location":{"id":"doi:10.1086/302890","doi":"https://doi.org/10.1086/302890","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302890","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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 American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1086/302890","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018733955","display_name":"Shrawan Kumar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"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":true,"raw_author_name":"Shrawan Kumar","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA. Kumar@boystown.org","Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA. Kumar@boystown.org","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]},{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112894335","display_name":"Karen E. Deffenbacher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"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":"Karen Deffenbacher","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111964828","display_name":"Henri A. M. Marres","orcid":"https://orcid.org/0000-0003-3096-7071","observed_orcids":["https://orcid.org/0000-0003-3096-7071"]},"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"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Henri A.M. Marres","raw_affiliation_strings":["Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109275573","display_name":"Cor W. R. J. Cremers","orcid":null,"observed_orcids":[]},"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"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Cor W.R.J. Cremers","raw_affiliation_strings":["Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111634190","display_name":"William J. Kimberling","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"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, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5018733955"],"corresponding_institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":14.5714,"has_fulltext":false,"cited_by_count":91,"citation_normalized_percentile":{"value":0.99267454,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"66","issue":"5","first_page":"1715","last_page":"1720"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12631","display_name":"Head and Neck Anomalies","score":0.9320999979972839,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12631","display_name":"Head and Neck Anomalies","score":0.9320999979972839,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.047600001096725464,"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.004800000227987766,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/branchio-oto-renal-syndrome","display_name":"branchio-oto-renal syndrome","score":0.9670000076293945},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9259999990463257},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.7960000038146973},{"id":"https://openalex.org/keywords/branchial-arch-anomalies","display_name":"branchial arch anomalies","score":0.8180000185966492},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.9490000009536743},{"id":"https://openalex.org/keywords/renal-anomalies","display_name":"renal anomalies","score":0.5490000247955322},{"id":"https://openalex.org/keywords/allelism","display_name":"allelism","score":0.4090000092983246},{"id":"https://openalex.org/keywords/extended-family","display_name":"extended family","score":0.6190000176429749}],"concepts":[{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.7464688420295715},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.6107869744300842},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5234662890434265},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5135038495063782},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.417254775762558},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40624213218688965},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3886876106262207},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.38526785373687744},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3089298605918884},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.16761967539787292}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","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":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002878","descriptor_name":"Chromosomes, Human, Pair 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","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":"D008957","descriptor_name":"Models, Genetic","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":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019280","descriptor_name":"Branchio-Oto-Renal Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019280","descriptor_name":"Branchio-Oto-Renal Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1086/302890","doi":"https://doi.org/10.1086/302890","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302890","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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 American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1378029","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1378029","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:10762556","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10762556","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/144797","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/2066/144797","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":"","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/144797","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/144797","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":"American Journal of Human Genetics, 66, 1715 - 1720","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1086/302890","doi":"https://doi.org/10.1086/302890","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302890","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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 American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8199999928474426}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4191502365","display_name":"GENTICS OF USHER SYNDROME","funder_award_id":"P01DC001813","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1492646286","https://openalex.org/W1538524809","https://openalex.org/W1972107478","https://openalex.org/W1972885010","https://openalex.org/W1973110193","https://openalex.org/W1974776472","https://openalex.org/W1977624875","https://openalex.org/W1979316144","https://openalex.org/W1988831669","https://openalex.org/W1988890659","https://openalex.org/W1989102350","https://openalex.org/W2000898022","https://openalex.org/W2004934654","https://openalex.org/W2005436671","https://openalex.org/W2007840429","https://openalex.org/W2026822982","https://openalex.org/W2032149570","https://openalex.org/W2047304258","https://openalex.org/W2058642876","https://openalex.org/W2066770557","https://openalex.org/W2071068295","https://openalex.org/W2086240452","https://openalex.org/W2117628908","https://openalex.org/W2141858057","https://openalex.org/W2145691849","https://openalex.org/W2171124875","https://openalex.org/W2420165047","https://openalex.org/W7074019653"],"related_works":["https://openalex.org/W1973110193","https://openalex.org/W2117628908","https://openalex.org/W2071309654","https://openalex.org/W2163120890","https://openalex.org/W1977624875","https://openalex.org/W2071068295","https://openalex.org/W3087195078","https://openalex.org/W2135304260","https://openalex.org/W2405650636","https://openalex.org/W1980159504"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}