{"id":"https://openalex.org/W2091012403","doi":"https://doi.org/10.1097/gim.0b013e3181bd3d90","title":"FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing","display_name":"FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing","publication_year":2009,"publication_date":"2009-11-01","ids":{"openalex":"https://openalex.org/W2091012403","doi":"https://doi.org/10.1097/gim.0b013e3181bd3d90","mag":"2091012403","pmid":"https://pubmed.ncbi.nlm.nih.gov/19938245","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4113033"},"language":"en","primary_location":{"id":"doi:10.1097/gim.0b013e3181bd3d90","doi":"https://doi.org/10.1097/gim.0b013e3181bd3d90","is_oa":true,"landing_page_url":"https://doi.org/10.1097/gim.0b013e3181bd3d90","pdf_url":"http://www.gimjournal.org/article/S1098360021039885/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","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":"Genetics in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.gimjournal.org/article/S1098360021039885/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037782599","display_name":"Robin Dawn Clark","orcid":"https://orcid.org/0000-0002-7277-4975","observed_orcids":["https://orcid.org/0000-0002-7277-4975"]},"institutions":[{"id":"https://openalex.org/I1293502524","display_name":"Loma Linda University Medical Center","ror":"https://ror.org/03et1qs84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1293502524"]},{"id":"https://openalex.org/I26347476","display_name":"Loma Linda University","ror":"https://ror.org/04bj28v14","country_code":"US","type":"education","lineage":["https://openalex.org/I26347476"]},{"id":"https://openalex.org/I4210095401","display_name":"Loma Linda University Health Care","ror":"https://ror.org/00saxze38","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210095401"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Robin Dawn Clark","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA. ltigard@llu.edu","Division of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA. ltigard@llu.edu","institution_ids":["https://openalex.org/I1293502524","https://openalex.org/I4210095401"]},{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda","institution_ids":["https://openalex.org/I1293502524","https://openalex.org/I26347476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043075977","display_name":"John M. Graham","orcid":"https://orcid.org/0000-0003-4297-1078","observed_orcids":["https://orcid.org/0000-0003-4297-1078"]},"institutions":[{"id":"https://openalex.org/I1282927834","display_name":"Cedars-Sinai Medical Center","ror":"https://ror.org/02pammg90","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1282927834"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John M. Graham","raw_affiliation_strings":["Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California;","Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California;","institution_ids":["https://openalex.org/I1282927834"]},{"raw_affiliation_string":"Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles","institution_ids":["https://openalex.org/I1282927834"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033682081","display_name":"Michael J. Friez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael J. Friez","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina;","Greenwood Genetic Center, Greenwood"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina;","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111785911","display_name":"Joe J. Hoo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I90871651","display_name":"University of Toledo","ror":"https://ror.org/01pbdzh19","country_code":"US","type":"education","lineage":["https://openalex.org/I90871651"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joe J. Hoo","raw_affiliation_strings":["Department of Pediatrics, University of Toledo, NW Ohio Regional Genetics Center, Toledo, Ohio;","Department of Pediatrics, University of Toledo, NW Ohio Regional Genetics Center, Toledo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Toledo, NW Ohio Regional Genetics Center, Toledo, Ohio;","institution_ids":["https://openalex.org/I90871651"]},{"raw_affiliation_string":"Department of Pediatrics, University of Toledo, NW Ohio Regional Genetics Center, Toledo","institution_ids":["https://openalex.org/I90871651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034436437","display_name":"Kenneth Lyons Jones","orcid":"https://orcid.org/0000-0002-5404-5912","observed_orcids":["https://orcid.org/0000-0002-5404-5912"]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth Lyons Jones","raw_affiliation_strings":["Department of Pediatrics, University of California at San Diego School of Medicine, San Diego, California;","Department of Pediatrics, University of California at San Diego School of Medicine, San Diego"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of California at San Diego School of Medicine, San Diego, California;","institution_ids":["https://openalex.org/I36258959"]},{"raw_affiliation_string":"Department of Pediatrics, University of California at San Diego School of Medicine, San Diego","institution_ids":["https://openalex.org/I36258959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109341966","display_name":"Carole McKeown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099987","display_name":"Birmingham Women's Hospital","ror":"https://ror.org/00xe5zs60","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210099987","https://openalex.org/I4210155225"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Carole McKeown","raw_affiliation_strings":["West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom","institution_ids":["https://openalex.org/I4210099987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082828820","display_name":"John B. Moeschler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1289422878","display_name":"Dartmouth\u2013Hitchcock Medical Center","ror":"https://ror.org/00d1dhh09","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I107672454","https://openalex.org/I1289422878","https://openalex.org/I4390039337"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John B. Moeschler","raw_affiliation_strings":["Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire;","Dartmouth Hitchcock Medical Center, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire;","institution_ids":["https://openalex.org/I1289422878"]},{"raw_affiliation_string":"Dartmouth Hitchcock Medical Center, Lebanon","institution_ids":["https://openalex.org/I1289422878"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083501411","display_name":"Frances Lucy Raymond","orcid":"https://orcid.org/0000-0003-2652-3355","observed_orcids":["https://orcid.org/0000-0003-2652-3355"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"F. Lucy Raymond","raw_affiliation_strings":["Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101543110","display_name":"R. Curtis Rogers","orcid":"https://orcid.org/0000-0002-0938-4608","observed_orcids":["https://orcid.org/0000-0002-0938-4608"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. Curtis Rogers","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina;","Greenwood Genetic Center, Greenwood"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina;","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina;","Greenwood Genetic Center, Greenwood"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina;","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044044440","display_name":"Agatino Battaglia","orcid":"https://orcid.org/0000-0002-7128-7606","observed_orcids":["https://orcid.org/0000-0002-7128-7606"]},"institutions":[{"id":"https://openalex.org/I4210126460","display_name":"Fondazione Stella Maris","ror":"https://ror.org/02w8ez808","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126460","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Agatino Battaglia","raw_affiliation_strings":["Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy","institution_ids":["https://openalex.org/I4210126460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018822381","display_name":"Michael J. Lyons","orcid":"https://orcid.org/0000-0002-8644-5507","observed_orcids":["https://orcid.org/0000-0002-8644-5507"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael J. Lyons","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina;","Greenwood Genetic Center, Greenwood"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina;","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roger E. Stevenson","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina;","Greenwood Genetic Center, Greenwood"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina;","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood","institution_ids":["https://openalex.org/I4210149064"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5037782599"],"corresponding_institution_ids":["https://openalex.org/I1293502524","https://openalex.org/I26347476","https://openalex.org/I4210095401"],"apc_list":{"value":5110,"currency":"USD","value_usd":5110},"apc_paid":null,"fwci":1.538,"has_fulltext":true,"cited_by_count":41,"citation_normalized_percentile":{"value":0.82687633,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"11","issue":"11","first_page":"769","last_page":"775"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9599999785423279,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9599999785423279,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.03709999844431877,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/fg-syndrome","display_name":"FG syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/med12","display_name":"MED12","score":0.8820000290870667},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.8360000252723694},{"id":"https://openalex.org/keywords/diagnostic-algorithm","display_name":"diagnostic algorithm","score":0.765999972820282},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.722000002861023},{"id":"https://openalex.org/keywords/x-linked-intellectual-disability","display_name":"X-linked intellectual disability","score":0.8149999976158142}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6117808818817139},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.5924091935157776},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5885348916053772},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5882284045219421},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.406690776348114},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37660589814186096},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.37417322397232056},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3599919080734253},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24602124094963074},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19509011507034302},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.08076843619346619}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056892","descriptor_name":"Mediator Complex","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1097/gim.0b013e3181bd3d90","doi":"https://doi.org/10.1097/gim.0b013e3181bd3d90","is_oa":true,"landing_page_url":"https://doi.org/10.1097/gim.0b013e3181bd3d90","pdf_url":"http://www.gimjournal.org/article/S1098360021039885/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","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":"Genetics in Medicine","raw_type":"journal-article"},{"id":"pmid:19938245","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19938245","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":"Genetics in medicine : official journal of the American College of Medical Genetics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3080633","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4113033","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4113033","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4113033","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Genet Med","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1097/gim.0b013e3181bd3d90","doi":"https://doi.org/10.1097/gim.0b013e3181bd3d90","is_oa":true,"landing_page_url":"https://doi.org/10.1097/gim.0b013e3181bd3d90","pdf_url":"http://www.gimjournal.org/article/S1098360021039885/pdf","source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","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":"Genetics in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1151667499","display_name":null,"funder_award_id":"R01-HD026202","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G194938417","display_name":null,"funder_award_id":"HD 26202","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G199406178","display_name":null,"funder_award_id":"HD 22657","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G263635542","display_name":"The Skeletal Dysplasias","funder_award_id":"P01HD022657","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G8961843245","display_name":"X-Linked Mental Retardation-Linkage","funder_award_id":"5r01hd026202-15","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000896139","display_name":"UCLA Medical Genetics Training Program","funder_award_id":"T32GM008243","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320319669","display_name":"Action Medical Research","ror":"https://ror.org/01wcqa315"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332175","display_name":"Health Resources and Services Administration","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2091012403.pdf","grobid_xml":"https://content.openalex.org/works/W2091012403.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1963929751","https://openalex.org/W1969270394","https://openalex.org/W1972981436","https://openalex.org/W2008840504","https://openalex.org/W2010534541","https://openalex.org/W2010829238","https://openalex.org/W2012514280","https://openalex.org/W2015454850","https://openalex.org/W2027033528","https://openalex.org/W2033381913","https://openalex.org/W2048632403","https://openalex.org/W2068892991","https://openalex.org/W2075725851","https://openalex.org/W2087203938","https://openalex.org/W2103200033","https://openalex.org/W2140490140","https://openalex.org/W2970017660","https://openalex.org/W4238207373","https://openalex.org/W4239852630"],"related_works":["https://openalex.org/W2103200033","https://openalex.org/W2020895147","https://openalex.org/W2077268491","https://openalex.org/W2012514280","https://openalex.org/W2080165872","https://openalex.org/W2010534541","https://openalex.org/W1566325361","https://openalex.org/W2973512883","https://openalex.org/W2008840504","https://openalex.org/W2409789281"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
