{"id":"https://openalex.org/W2135206290","doi":"https://doi.org/10.1001/jama.1993.03510190107035","title":"Medical Genetics","display_name":"Medical Genetics","publication_year":1993,"publication_date":"1993-11-17","ids":{"openalex":"https://openalex.org/W2135206290","doi":"https://doi.org/10.1001/jama.1993.03510190107035","mag":"2135206290","pmid":"https://pubmed.ncbi.nlm.nih.gov/8230599"},"language":"en","primary_location":{"id":"doi:10.1001/jama.1993.03510190107035","doi":"https://doi.org/10.1001/jama.1993.03510190107035","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1993.03510190107035","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","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/A5111410199","display_name":"Victor A. McKusick","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I4210150714","display_name":"Johns Hopkins Hospital","ror":"https://ror.org/05cb1k848","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210150714"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Victor A. McKusick","raw_affiliation_strings":["Center for Medical Genetics, Johns Hopkins Hospital, Baltimore, Md"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Johns Hopkins Hospital, Baltimore, Md","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I4210150714"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5111410199"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I4210150714"],"apc_list":null,"apc_paid":null,"fwci":11.2858,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.98209248,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"270","issue":"19","first_page":"2351","last_page":"2351"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T14475","display_name":"History of Science and Medicine","score":0.4580000042915344,"subfield":{"id":"https://openalex.org/subfields/1207","display_name":"History and Philosophy of Science"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T14475","display_name":"History of Science and Medicine","score":0.4580000042915344,"subfield":{"id":"https://openalex.org/subfields/1207","display_name":"History and Philosophy of Science"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.17090000212192535,"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/T12168","display_name":"Health and Medical Research Impacts","score":0.06599999964237213,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/medical-genetics","display_name":"medical genetics","score":0.9319999814033508},{"id":"https://openalex.org/keywords/specialty-certification","display_name":"specialist certification","score":0.7049999833106995},{"id":"https://openalex.org/keywords/history-of-medical-genetics","display_name":"history of medical genetics","score":0.7269999980926514},{"id":"https://openalex.org/keywords/biochemical-genetics","display_name":"biochemical genetics","score":0.7059999704360962},{"id":"https://openalex.org/keywords/molecular-genetics","display_name":"molecular genetics","score":0.9990000128746033}],"concepts":[{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.9068915843963623},{"id":"https://openalex.org/C20387591","wikidata":"https://www.wikidata.org/wiki/Q930752","display_name":"Specialty","level":2,"score":0.8046602606773376},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6512922644615173},{"id":"https://openalex.org/C46304622","wikidata":"https://www.wikidata.org/wiki/Q374814","display_name":"Certification","level":2,"score":0.5535441637039185},{"id":"https://openalex.org/C2776474047","wikidata":"https://www.wikidata.org/wiki/Q4931289","display_name":"Board certification","level":4,"score":0.5191711187362671},{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.46883147954940796},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.46758580207824707},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.46080541610717773},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.45153552293777466},{"id":"https://openalex.org/C509550671","wikidata":"https://www.wikidata.org/wiki/Q126945","display_name":"Medical education","level":1,"score":0.29884934425354004},{"id":"https://openalex.org/C2777280699","wikidata":"https://www.wikidata.org/wiki/Q123220","display_name":"Continuing medical education","level":3,"score":0.18395507335662842},{"id":"https://openalex.org/C187736073","wikidata":"https://www.wikidata.org/wiki/Q2920921","display_name":"Management","level":1,"score":0.1367221474647522},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13531208038330078},{"id":"https://openalex.org/C2988064887","wikidata":"https://www.wikidata.org/wiki/Q828748","display_name":"Continuing education","level":2,"score":0.11881345510482788},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":false},{"descriptor_ui":"D005544","descriptor_name":"Forecasting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016045","descriptor_name":"Human Genome Project","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1001/jama.1993.03510190107035","doi":"https://doi.org/10.1001/jama.1993.03510190107035","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1993.03510190107035","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},{"id":"doi:10.1001/jama.270.19.2351","doi":"https://doi.org/10.1001/jama.270.19.2351","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.270.19.2351","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA: The Journal of the American Medical Association","raw_type":"journal-article"},{"id":"pmid:8230599","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8230599","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":"JAMA","raw_type":"Journal Article"},{"id":"pmh:oai:repository.library.georgetown.edu:10822/525867","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10822/525867","pdf_url":null,"source":{"id":"https://openalex.org/S4306402467","display_name":"DigitalGeorgetown (Georgetown University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210145449","host_organization_name":"Center for Security and Emerging Technology","host_organization_lineage":["https://openalex.org/I4210145449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"133516","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W29164706","https://openalex.org/W71406710","https://openalex.org/W190213948","https://openalex.org/W226219122","https://openalex.org/W1486327362","https://openalex.org/W1510546584","https://openalex.org/W1519918067","https://openalex.org/W1590537655","https://openalex.org/W1597901734","https://openalex.org/W1803375514","https://openalex.org/W1979680990","https://openalex.org/W1988289406","https://openalex.org/W1992487943","https://openalex.org/W2017380671","https://openalex.org/W2032012715","https://openalex.org/W2038204679","https://openalex.org/W2049586830","https://openalex.org/W2057394745","https://openalex.org/W2063450941","https://openalex.org/W2067379696","https://openalex.org/W2088356389","https://openalex.org/W2091977853","https://openalex.org/W2102780100","https://openalex.org/W2103459075","https://openalex.org/W2114708543","https://openalex.org/W2120613619","https://openalex.org/W2133833185","https://openalex.org/W2166447276","https://openalex.org/W3192901545"],"related_works":["https://openalex.org/W4242455326","https://openalex.org/W2317657842","https://openalex.org/W7098041183","https://openalex.org/W1518104662","https://openalex.org/W1968448331","https://openalex.org/W2555708895","https://openalex.org/W2930339534","https://openalex.org/W1994284232","https://openalex.org/W2064194404","https://openalex.org/W2183081865"],"abstract_inverted_index":{"WITHIN":[0],"the":[1,26,29,43,49,53,61,72,87,102,116,129,143],"last":[2,88],"year,":[3],"medical":[4],"genetics":[5,141],"has":[6,83,131],"been":[7],"fully":[8],"recognized":[9],"as":[10,48],"a":[11],"bona":[12],"fide":[13],"clinical":[14,81,126,135],"specialty.":[15],"The":[16,77,104],"American":[17,30,54,62,105],"Board":[18,55,106],"of":[19,28,32,45,52,56,64,74,79,107,145],"Medical":[20,57,65,108],"Genetics,":[21],"established":[22,68],"in":[23,38,69,94,115,125,134],"1979":[24],"under":[25],"wing":[27],"Society":[31],"Human":[33],"Genetics":[34,66,109],"(with":[35],"first":[36],"examinations":[37],"1981),":[39],"was":[40,67],"accepted":[41],"into":[42],"family":[44],"specialty-certifying":[46],"boards":[47,114],"24th":[50],"member":[51],"Specialties.":[58],"In":[59],"1992,":[60],"College":[63],"parallel":[70],"to":[71,100],"colleges":[73],"other":[75],"specialties.":[76],"development":[78,96],"this":[80],"specialty":[82,113],"taken":[84],"place":[85],"during":[86],"40":[89],"years,":[90],"and":[91,128,139],"many":[92],"involved":[93],"that":[95,118],"are":[97,121],"still":[98],"active":[99],"tell":[101],"story.1":[103],"is":[110],"unusual":[111],"among":[112],"fact":[117],"PhD":[119],"geneticists":[120],"certified":[122],"for":[123],"working":[124],"genetics,":[127,136,138],"board":[130],"specialized":[132],"certification":[133],"biochemical":[137],"molecular":[140],"on":[142],"basis":[144],"separate":[146],"examinations.":[147],"(The":[148]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
