{"id":"https://openalex.org/W2040446259","doi":"https://doi.org/10.1038/ejhg.2011.239","title":"17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations","display_name":"17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations","publication_year":2011,"publication_date":"2011-12-14","ids":{"openalex":"https://openalex.org/W2040446259","doi":"https://doi.org/10.1038/ejhg.2011.239","mag":"2040446259","pmid":"https://pubmed.ncbi.nlm.nih.gov/22166941","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3330218"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2011.239","doi":"https://doi.org/10.1038/ejhg.2011.239","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.239","pdf_url":"https://www.nature.com/articles/ejhg2011239.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/ejhg2011239.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047910069","display_name":"Sarah Vergult","orcid":"https://orcid.org/0000-0002-0816-6262","observed_orcids":["https://orcid.org/0000-0002-0816-6262"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sarah Vergult","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039731517","display_name":"Andrew Nahum Dauber","orcid":"https://orcid.org/0000-0003-4890-0262","observed_orcids":["https://orcid.org/0000-0003-4890-0262"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Dauber","raw_affiliation_strings":["Division of Endocrinology, Children's Hospital Boston, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology, Children's Hospital Boston, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064414239","display_name":"Barbara Delle Chiaie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Barbara Delle Chiaie","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044975619","display_name":"Elke Van Oudenhove","orcid":"https://orcid.org/0000-0001-9913-3898","observed_orcids":["https://orcid.org/0000-0001-9913-3898"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Elke Van Oudenhove","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073354779","display_name":"Marleen Simon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marleen Simon","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045967861","display_name":"Ali Rihani","orcid":"https://orcid.org/0000-0002-6176-0519","observed_orcids":["https://orcid.org/0000-0002-6176-0519"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ali Rihani","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042051309","display_name":"Bart Loeys","orcid":"https://orcid.org/0000-0003-3703-9518","observed_orcids":["https://orcid.org/0000-0003-3703-9518"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Bart Loeys","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","Department for Medical Genetics, Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]},{"raw_affiliation_string":"Department for Medical Genetics, Antwerp, Belgium","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001552586","display_name":"Joel N. Hirschhorn","orcid":"https://orcid.org/0000-0002-1650-7901","observed_orcids":["https://orcid.org/0000-0002-1650-7901"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joel Hirschhorn","raw_affiliation_strings":["Division of Endocrinology, Children's Hospital Boston, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology, Children's Hospital Boston, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008884806","display_name":"Jean P. Pfotenhauer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jean Pfotenhauer","raw_affiliation_strings":["Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":null,"display_name":"John A Phillips","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John A Phillips","raw_affiliation_strings":["Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110256867","display_name":"Shehla N. Mohammed","orcid":"https://orcid.org/0009-0009-7610-0183","observed_orcids":["https://orcid.org/0009-0009-7610-0183"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Shehla Mohammed","raw_affiliation_strings":["Regional Genetics Centre Guy's Hospital, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regional Genetics Centre Guy's Hospital, London, UK","institution_ids":["https://openalex.org/I1298207432"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049601909","display_name":"Caroline Mackie Ogilvie","orcid":"https://orcid.org/0000-0001-6827-0443","observed_orcids":["https://orcid.org/0000-0001-6827-0443"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Caroline Ogilvie","raw_affiliation_strings":["Regional Genetics Centre Guy's Hospital, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Regional Genetics Centre Guy's Hospital, London, UK","institution_ids":["https://openalex.org/I1298207432"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111910955","display_name":"John Anthony Crolla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799594651","display_name":"Salisbury District Hospital","ror":"https://ror.org/05bx2yj81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799594651","https://openalex.org/I79209787"]},{"id":"https://openalex.org/I4210129558","display_name":"Wessex Regional Genetics Laboratory","ror":"https://ror.org/02t83f864","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210129558","https://openalex.org/I79209787"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Crolla","raw_affiliation_strings":["Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK","institution_ids":["https://openalex.org/I2799594651","https://openalex.org/I4210129558"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032533861","display_name":"Geert R. Mortier","orcid":"https://orcid.org/0000-0001-9871-4578","observed_orcids":["https://orcid.org/0000-0001-9871-4578"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Geert Mortier","raw_affiliation_strings":["Department for Medical Genetics, Antwerp, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department for Medical Genetics, Antwerp, Belgium","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055943100","display_name":"Bj\u00f6rn Menten","orcid":"https://orcid.org/0000-0001-8182-659X","observed_orcids":["https://orcid.org/0000-0001-8182-659X"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Bj\u00f6rn Menten","raw_affiliation_strings":["Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5055943100"],"corresponding_institution_ids":["https://openalex.org/I2801227569"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":2.1903,"has_fulltext":true,"cited_by_count":32,"citation_normalized_percentile":{"value":0.87175215,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"20","issue":"5","first_page":"534","last_page":"539"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9994999766349792,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9994999766349792,"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":0.00019999999494757503,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9909999966621399},{"id":"https://openalex.org/keywords/abdominal-obesity","display_name":"abdominal obesity","score":0.9919999837875366},{"id":"https://openalex.org/keywords/hallucinations","display_name":"hallucinations","score":0.8399999737739563},{"id":"https://openalex.org/keywords/mood-swings","display_name":"mood swings","score":0.9649999737739563},{"id":"https://openalex.org/keywords/speech-delay","display_name":"speech delay","score":0.7200000286102295},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.9380000233650208},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.984000027179718},{"id":"https://openalex.org/keywords/protein-kinase-c-alpha","display_name":"protein kinase C alpha","score":0.7850000262260437},{"id":"https://openalex.org/keywords/kcnj2","display_name":"KCNJ2","score":0.8069999814033508},{"id":"https://openalex.org/keywords/prkar1a","display_name":"PRKAR1A","score":0.8980000019073486},{"id":"https://openalex.org/keywords/carney-complex","display_name":"Carney complex","score":0.7900000214576721}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6275708079338074},{"id":"https://openalex.org/C2778722290","wikidata":"https://www.wikidata.org/wiki/Q7933601","display_name":"Mood swing","level":3,"score":0.5801699161529541},{"id":"https://openalex.org/C2780733359","wikidata":"https://www.wikidata.org/wiki/Q331769","display_name":"Mood","level":2,"score":0.5127078294754028},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.49422648549079895},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.44206368923187256},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3855992257595062},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3843536972999573},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.35152673721313477},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3312135338783264},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3270910382270813}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","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":"D006212","descriptor_name":"Hallucinations","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":"D007508","descriptor_name":"Irritable Mood","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012640","descriptor_name":"Seizures","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":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051571","descriptor_name":"Protein Kinase C-alpha","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056128","descriptor_name":"Obesity, Abdominal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1038/ejhg.2011.239","doi":"https://doi.org/10.1038/ejhg.2011.239","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.239","pdf_url":"https://www.nature.com/articles/ejhg2011239.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":"pmh:oai:europepmc.org:2637360","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3330218","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3330218","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3330218","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":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:22166941","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22166941","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:archive.ugent.be:3029284","doi":null,"is_oa":false,"landing_page_url":"https://biblio.ugent.be/publication/3029284","pdf_url":null,"source":{"id":"https://openalex.org/S4306400478","display_name":"Ghent University Academic Bibliography (Ghent University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I32597200","host_organization_name":"Ghent University","host_organization_lineage":["https://openalex.org/I32597200"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ISSN: 1018-4813","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:kclpure.kcl.ac.uk:publications/3aa4bc87-ae68-4e17-b731-05c9f611db57","doi":null,"is_oa":false,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/3aa4bc87-ae68-4e17-b731-05c9f611db57","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Vergult, S, Dauber, A, Delle Chiaie, B, Van Oudenhove, E, Simon, M, Rihani, A, Loeys, B, Hirschhorn, J, Pfotenhauer, J, Phillips, J A, Mohammed , S, Ogilvie, C, Crolla, J, Mortier, G & Menten, B 2012, '17q24.2 microdeletions : a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations', European Journal of Human Genetics, vol. 20, no. 5, pp. 534-539. https://doi.org/10.1038/ejhg.2011.239","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2011.239","doi":"https://doi.org/10.1038/ejhg.2011.239","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2011.239","pdf_url":"https://www.nature.com/articles/ejhg2011239.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","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4933014928","display_name":"Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature","funder_award_id":"K23HD073351","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"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/W2040446259.pdf","grobid_xml":"https://content.openalex.org/works/W2040446259.grobid-xml"},"referenced_works_count":47,"referenced_works":["https://openalex.org/W272392127","https://openalex.org/W296091172","https://openalex.org/W1520494921","https://openalex.org/W1966528044","https://openalex.org/W1970471513","https://openalex.org/W1988144292","https://openalex.org/W1995101635","https://openalex.org/W1996014915","https://openalex.org/W2000660517","https://openalex.org/W2003315040","https://openalex.org/W2008097168","https://openalex.org/W2011371855","https://openalex.org/W2025592015","https://openalex.org/W2025813437","https://openalex.org/W2026537232","https://openalex.org/W2033787363","https://openalex.org/W2035197728","https://openalex.org/W2039892043","https://openalex.org/W2040318026","https://openalex.org/W2041507463","https://openalex.org/W2042546696","https://openalex.org/W2050286531","https://openalex.org/W2058162640","https://openalex.org/W2058767837","https://openalex.org/W2062413436","https://openalex.org/W2062766267","https://openalex.org/W2065641910","https://openalex.org/W2072546329","https://openalex.org/W2073926696","https://openalex.org/W2078258876","https://openalex.org/W2079215910","https://openalex.org/W2079328894","https://openalex.org/W2087812966","https://openalex.org/W2089475281","https://openalex.org/W2091409931","https://openalex.org/W2103256993","https://openalex.org/W2112356718","https://openalex.org/W2122114951","https://openalex.org/W2124127909","https://openalex.org/W2127442418","https://openalex.org/W2128857247","https://openalex.org/W2147323486","https://openalex.org/W2155707112","https://openalex.org/W2156001353","https://openalex.org/W2157788198","https://openalex.org/W2161409513","https://openalex.org/W2431634234"],"related_works":["https://openalex.org/W3021461375","https://openalex.org/W1980384089","https://openalex.org/W4404321252","https://openalex.org/W2031667547","https://openalex.org/W2911144174","https://openalex.org/W1995101635","https://openalex.org/W2169804624","https://openalex.org/W2886333241","https://openalex.org/W2047722831","https://openalex.org/W1928102333"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":5},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
