{"id":"https://openalex.org/W2000350076","doi":"https://doi.org/10.1038/ejhg.2009.175","title":"Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype\u2013phenotype correlation","display_name":"Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype\u2013phenotype correlation","publication_year":2009,"publication_date":"2009-10-14","ids":{"openalex":"https://openalex.org/W2000350076","doi":"https://doi.org/10.1038/ejhg.2009.175","mag":"2000350076","pmid":"https://pubmed.ncbi.nlm.nih.gov/19826449"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2009.175","doi":"https://doi.org/10.1038/ejhg.2009.175","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.175","pdf_url":"https://www.nature.com/articles/ejhg2009175.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European 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://www.nature.com/articles/ejhg2009175.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081437134","display_name":"Sinitdhorn Rujirabanjerd","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I131868736","display_name":"Prince of Songkla University","ror":"https://ror.org/0575ycz84","country_code":"TH","type":"education","lineage":["https://openalex.org/I131868736"]},{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU","TH"],"is_corresponding":false,"raw_author_name":"Sinitdhorn Rujirabanjerd","raw_affiliation_strings":["Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand","Prince of Songkla University","Women's and Children's Hospital Adelaide"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand","institution_ids":["https://openalex.org/I131868736"]},{"raw_affiliation_string":"Prince of Songkla University","institution_ids":["https://openalex.org/I131868736"]},{"raw_affiliation_string":"Women's and Children's Hospital Adelaide","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073911706","display_name":"John W. Nelson","orcid":"https://orcid.org/0000-0003-4134-3803","observed_orcids":["https://orcid.org/0000-0003-4134-3803"]},"institutions":[{"id":"https://openalex.org/I2801351171","display_name":"King Edward Memorial Hospital","ror":"https://ror.org/00ns3e792","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801351171"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"John Nelson","raw_affiliation_strings":["Genetic Service of Western Australia, King Edward Memorial Hospital for Women, Perth, Western Australia, Australia","King Edward Memorial Hospital for Women"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Service of Western Australia, King Edward Memorial Hospital for Women, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I2801351171"]},{"raw_affiliation_string":"King Edward Memorial Hospital for Women","institution_ids":["https://openalex.org/I2801351171"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045328655","display_name":"Patrick S. Tarpey","orcid":"https://orcid.org/0000-0002-2042-4543","observed_orcids":["https://orcid.org/0000-0002-2042-4543"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Patrick S Tarpey","raw_affiliation_strings":["Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","Wellcome Trust Sanger Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Wellcome Trust Sanger Institute","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103073875","display_name":"Anna Hackett","orcid":"https://orcid.org/0000-0002-8032-7315","observed_orcids":["https://orcid.org/0000-0002-8032-7315"]},"institutions":[{"id":"https://openalex.org/I4210097885","display_name":"Hunter Genetics","ror":"https://ror.org/00w1xt505","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210097885","https://openalex.org/I4210154888"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Anna Hackett","raw_affiliation_strings":["The GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia","GOLD Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia","institution_ids":["https://openalex.org/I4210097885"]},{"raw_affiliation_string":"GOLD Service","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002960171","display_name":"Sarah Edkins","orcid":"https://orcid.org/0000-0003-0717-1972","observed_orcids":["https://orcid.org/0000-0003-0717-1972"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Sarah Edkins","raw_affiliation_strings":["Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","Wellcome Trust Sanger Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Wellcome Trust Sanger Institute","institution_ids":["https://openalex.org/I2802476451"]}]},{"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/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"F Lucy Raymond","raw_affiliation_strings":["Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge, UK","Addenbrooke's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge, UK","institution_ids":["https://openalex.org/I4210156194"]},{"raw_affiliation_string":"Addenbrooke's Hospital","institution_ids":["https://openalex.org/I4210156194"]}]},{"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":["Center for Molecular Studies, JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA","Greenwood Genetics Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Studies, JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Greenwood Genetics Center","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038600242","display_name":"GILLIAN M. TURNER","orcid":"https://orcid.org/0000-0002-3728-3302","observed_orcids":["https://orcid.org/0000-0002-3728-3302"]},"institutions":[{"id":"https://openalex.org/I4210097885","display_name":"Hunter Genetics","ror":"https://ror.org/00w1xt505","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210097885","https://openalex.org/I4210154888"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Gillian Turner","raw_affiliation_strings":["The GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia","GOLD Service"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia","institution_ids":["https://openalex.org/I4210097885"]},{"raw_affiliation_string":"GOLD Service","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039093612","display_name":"Shigeki Iwase","orcid":"https://orcid.org/0000-0003-2280-7422","observed_orcids":["https://orcid.org/0000-0003-2280-7422"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shigeki Iwase","raw_affiliation_strings":["Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA","Harvard University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051695126","display_name":"Yang Shi","orcid":"https://orcid.org/0000-0001-9713-1709","observed_orcids":["https://orcid.org/0000-0001-9713-1709"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yang Shi","raw_affiliation_strings":["Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA","Harvard University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Harvard University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067102201","display_name":"P. Andrew Futreal","orcid":"https://orcid.org/0000-0001-8663-2671","observed_orcids":["https://orcid.org/0000-0001-8663-2671"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"P Andrew Futreal","raw_affiliation_strings":["Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","Genomic Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Genomic Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058103562","display_name":"Michael R. Stratton","orcid":"https://orcid.org/0000-0001-6035-153X","observed_orcids":["https://orcid.org/0000-0001-6035-153X"]},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael R Stratton","raw_affiliation_strings":["Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","Wellcome Trust Sanger Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Wellcome Trust Sanger Institute","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016228050","display_name":"Jozef G\u00e9cz","orcid":"https://orcid.org/0000-0002-7884-6861","observed_orcids":["https://orcid.org/0000-0002-7884-6861"]},"institutions":[{"id":"https://openalex.org/I107656453","display_name":"South Australia Pathology","ror":"https://ror.org/01kvtm035","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I107656453"]},{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]},{"id":"https://openalex.org/I5681781","display_name":"The University of Adelaide","ror":"https://ror.org/00892tw58","country_code":"AU","type":"education","lineage":["https://openalex.org/I4405259444","https://openalex.org/I5681781"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Jozef Gecz","raw_affiliation_strings":["Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia","Department of Paediatrics and School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia","University of Adelaide","Women's and Children's Hospital, Adelaide"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia","institution_ids":["https://openalex.org/I107656453","https://openalex.org/I2801308011"]},{"raw_affiliation_string":"Department of Paediatrics and School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia","institution_ids":["https://openalex.org/I5681781"]},{"raw_affiliation_string":"University of Adelaide","institution_ids":["https://openalex.org/I5681781"]},{"raw_affiliation_string":"Women's and Children's Hospital, Adelaide","institution_ids":["https://openalex.org/I2801308011"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5016228050"],"corresponding_institution_ids":["https://openalex.org/I107656453","https://openalex.org/I2801308011","https://openalex.org/I5681781"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":1.6027,"has_fulltext":true,"cited_by_count":65,"citation_normalized_percentile":{"value":0.82693198,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"18","issue":"3","first_page":"330","last_page":"335"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0006000000284984708,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.00019999999494757503,"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/jarid1c","display_name":"JARID1C","score":0.9990000128746033},{"id":"https://openalex.org/keywords/x-linked-intellectual-disability","display_name":"X-linked intellectual disability","score":0.8880000114440918},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.906000018119812},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6740000247955322},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8550000190734863},{"id":"https://openalex.org/keywords/nonsense-mediated-mrna-decay","display_name":"nonsense-mediated mRNA decay","score":0.9020000100135803},{"id":"https://openalex.org/keywords/demethylase-activity","display_name":"demethylase activity","score":0.6769999861717224},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.3569999933242798},{"id":"https://openalex.org/keywords/resequencing","display_name":"resequencing","score":0.5820000171661377}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7255430221557617},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.674387514591217},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6657038927078247},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6445404291152954},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5859845280647278},{"id":"https://openalex.org/C117220453","wikidata":"https://www.wikidata.org/wiki/Q5172842","display_name":"Correlation","level":2,"score":0.5316011905670166},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.47601112723350525},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.43350949883461},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.217210054397583},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.05953070521354675},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004587","descriptor_name":"Electrophoresis, Agar Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004587","descriptor_name":"Electrophoresis, Agar Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004587","descriptor_name":"Electrophoresis, Agar Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006657","descriptor_name":"Histones","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006657","descriptor_name":"Histones","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006657","descriptor_name":"Histones","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"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":"D008297","descriptor_name":"Male","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":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010089","descriptor_name":"Oxidoreductases, N-Demethylating","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D056466","descriptor_name":"Histone Demethylases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056466","descriptor_name":"Histone Demethylases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056466","descriptor_name":"Histone Demethylases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1038/ejhg.2009.175","doi":"https://doi.org/10.1038/ejhg.2009.175","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.175","pdf_url":"https://www.nature.com/articles/ejhg2009175.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:19826449","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19826449","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":"European journal of human genetics : EJHG","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:2987212","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2987212","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/57688","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2440/57688","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dx.doi.org/10.1038/ejhg.2009.175","raw_type":"Journal article"},{"id":"pmh:uon:10419","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1959.13/928717","pdf_url":null,"source":{"id":"https://openalex.org/S4377196471","display_name":"NOVA (University of Newcastle Australia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I78757542","host_organization_name":"University of Newcastle Australia","host_organization_lineage":["https://openalex.org/I78757542"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2009.175","doi":"https://doi.org/10.1038/ejhg.2009.175","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.175","pdf_url":"https://www.nature.com/articles/ejhg2009175.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2000350076.pdf","grobid_xml":"https://content.openalex.org/works/W2000350076.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1542676884","https://openalex.org/W1812452468","https://openalex.org/W1978888764","https://openalex.org/W2002676132","https://openalex.org/W2011396971","https://openalex.org/W2020958679","https://openalex.org/W2036288435","https://openalex.org/W2038658579","https://openalex.org/W2062345287","https://openalex.org/W2064609029","https://openalex.org/W2067523496","https://openalex.org/W2070614415","https://openalex.org/W2072255096","https://openalex.org/W2072590456","https://openalex.org/W2082683729","https://openalex.org/W2092970562","https://openalex.org/W2098952156","https://openalex.org/W2102444784","https://openalex.org/W2113833115","https://openalex.org/W2134052811","https://openalex.org/W2152231606","https://openalex.org/W2160087459"],"related_works":["https://openalex.org/W1535741351","https://openalex.org/W2071724948","https://openalex.org/W3032391085","https://openalex.org/W2076386802","https://openalex.org/W3003578468","https://openalex.org/W2066479759","https://openalex.org/W3212418185","https://openalex.org/W4319333460","https://openalex.org/W2092913562","https://openalex.org/W2914177579"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":5}],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2025-10-10T00:00:00"}