{"id":"https://openalex.org/W4414824485","doi":"https://doi.org/10.1016/j.euroneuro.2025.08.413","title":"W51. PATIENT-SPECIFIC SETD1A MUTATIONS IMPAIR NEURONAL DIFFERENTIATION AND FUNCTION IN HUMAN CORTICAL ORGANOIDS","display_name":"W51. PATIENT-SPECIFIC SETD1A MUTATIONS IMPAIR NEURONAL DIFFERENTIATION AND FUNCTION IN HUMAN CORTICAL ORGANOIDS","publication_year":2025,"publication_date":"2025-10-01","ids":{"openalex":"https://openalex.org/W4414824485","doi":"https://doi.org/10.1016/j.euroneuro.2025.08.413"},"language":"en","primary_location":{"id":"doi:10.1016/j.euroneuro.2025.08.413","doi":"https://doi.org/10.1016/j.euroneuro.2025.08.413","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.euroneuro.2025.08.413","pdf_url":null,"source":{"id":"https://openalex.org/S168041952","display_name":"European Neuropsychopharmacology","issn_l":"0924-977X","issn":["0924-977X","1873-7862"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","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":"European Neuropsychopharmacology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110082353","display_name":"Gregory Tracy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"Endeavor Health","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gregory Tracy","raw_affiliation_strings":["Endeavor Health Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endeavor Health Research Institute","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043206377","display_name":"Karla M\u00e9ndez\u2010Maldonado","orcid":"https://orcid.org/0000-0003-3762-0193","observed_orcids":["https://orcid.org/0000-0003-3762-0193"]},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"Endeavor Health","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karla Mendez-Maldonado","raw_affiliation_strings":["Endeavor Health Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endeavor Health Research Institute","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100332174","display_name":"Hanwen Zhang","orcid":"https://orcid.org/0000-0001-8490-918X","observed_orcids":["https://orcid.org/0000-0001-8490-918X"]},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"Endeavor Health","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hanwen Zhang","raw_affiliation_strings":["Endeavor Health Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endeavor Health Research Institute","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100633931","display_name":"Siwei Zhang","orcid":"https://orcid.org/0000-0002-1646-063X","observed_orcids":["https://orcid.org/0000-0002-1646-063X"]},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"Endeavor Health","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Siwei Zhang","raw_affiliation_strings":["Endeavor Health Research Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endeavor Health Research Institute","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yan Hong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yan Hong","raw_affiliation_strings":["University of Pennsylvania Perelman School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Pennsylvania Perelman School of Medicine","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012413992","display_name":"Zhiping P. Pang","orcid":"https://orcid.org/0000-0002-6183-1233","observed_orcids":["https://orcid.org/0000-0002-6183-1233"]},"institutions":[{"id":"https://openalex.org/I102322142","display_name":"Rutgers, The State University of New Jersey","ror":"https://ror.org/05vt9qd57","country_code":"US","type":"education","lineage":["https://openalex.org/I102322142"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhiping Pang","raw_affiliation_strings":["Neuroscience and Cell Biology, Rutgers University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuroscience and Cell Biology, Rutgers University","institution_ids":["https://openalex.org/I102322142"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009183873","display_name":"Hongjun Song","orcid":"https://orcid.org/0000-0002-8720-5310","observed_orcids":["https://orcid.org/0000-0002-8720-5310","https://orcid.org/0000-0003-3307-421X"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hongjun Song","raw_affiliation_strings":["University of Pennsylvania Perelman School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Pennsylvania Perelman School of Medicine","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004329894","display_name":"Guo\u2010li Ming","orcid":"https://orcid.org/0000-0002-2517-6075","observed_orcids":["https://orcid.org/0000-0002-2517-6075"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Guo-Li Ming","raw_affiliation_strings":["University of Pennsylvania Perelman School of Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Pennsylvania Perelman School of Medicine","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107845157","display_name":"Jubao Duan","orcid":"https://orcid.org/0000-0002-7215-3220","observed_orcids":["https://orcid.org/0000-0002-7215-3220"]},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"Endeavor Health","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]},{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jubao Duan","raw_affiliation_strings":["Endeavor Health/University of Chicago"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endeavor Health/University of Chicago","institution_ids":["https://openalex.org/I1339509835","https://openalex.org/I40347166"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"99","issue":null,"first_page":"234","last_page":"235"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10505","display_name":"Pluripotent Stem Cells Research","score":0.6547999978065491,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10505","display_name":"Pluripotent Stem Cells Research","score":0.6547999978065491,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.17399999499320984,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.020600000396370888,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/h3k4-methylation","display_name":"H3K4 methylation","score":0.8370000123977661},{"id":"https://openalex.org/keywords/compass-complex","display_name":"COMPASS complex","score":0.9440000057220459},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8999999761581421},{"id":"https://openalex.org/keywords/schizophrenia","display_name":"schizophrenia","score":0.8899999856948853},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.8360000252723694},{"id":"https://openalex.org/keywords/brain-organoids","display_name":"brain organoids","score":0.8939999938011169},{"id":"https://openalex.org/keywords/ipsc-derived-neurons","display_name":"iPSC-derived neurons","score":0.7649999856948853},{"id":"https://openalex.org/keywords/neuronal-differentiation","display_name":"neuronal differentiation","score":0.8159999847412109},{"id":"https://openalex.org/keywords/spontaneous-calcium-activity","display_name":"spontaneous calcium activity","score":0.5690000057220459},{"id":"https://openalex.org/keywords/h3k4me1","display_name":"H3K4me1","score":0.6629999876022339},{"id":"https://openalex.org/keywords/h3k4me3","display_name":"H3K4me3","score":0.9929999709129333},{"id":"https://openalex.org/keywords/chromatin-regulation","display_name":"chromatin regulation","score":0.6370000243186951}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9143000245094299},{"id":"https://openalex.org/C2780914512","wikidata":"https://www.wikidata.org/wiki/Q25323943","display_name":"H3K4me3","level":5,"score":0.6525999903678894},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.5360999703407288},{"id":"https://openalex.org/C64927066","wikidata":"https://www.wikidata.org/wiki/Q36293","display_name":"Histone","level":3,"score":0.5245000123977661},{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.4884999990463257},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45500001311302185},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.444599986076355},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4259999990463257},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.4235999882221222},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.3984000086784363},{"id":"https://openalex.org/C195267511","wikidata":"https://www.wikidata.org/wiki/Q5119969","display_name":"Ciliogenesis","level":3,"score":0.38659998774528503},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37070000171661377},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3671000003814697},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.3555000126361847},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.34380000829696655},{"id":"https://openalex.org/C18431079","wikidata":"https://www.wikidata.org/wiki/Q1502169","display_name":"Gene expression profiling","level":4,"score":0.3357999920845032},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.33320000767707825},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.33239999413490295},{"id":"https://openalex.org/C134320426","wikidata":"https://www.wikidata.org/wiki/Q901026","display_name":"Chromatin immunoprecipitation","level":5,"score":0.3312999904155731},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.3262999951839447},{"id":"https://openalex.org/C167227067","wikidata":"https://www.wikidata.org/wiki/Q5113739","display_name":"Chromatin remodeling","level":4,"score":0.3221000134944916},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.32120001316070557},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3197000026702881},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.31470000743865967},{"id":"https://openalex.org/C2779310769","wikidata":"https://www.wikidata.org/wiki/Q6553374","display_name":"Lineage markers","level":4,"score":0.298799991607666},{"id":"https://openalex.org/C2778760011","wikidata":"https://www.wikidata.org/wiki/Q21163346","display_name":"CTCF","level":5,"score":0.2757999897003174},{"id":"https://openalex.org/C29537977","wikidata":"https://www.wikidata.org/wiki/Q188941","display_name":"Cell cycle","level":3,"score":0.2590000033378601},{"id":"https://openalex.org/C148738053","wikidata":"https://www.wikidata.org/wiki/Q210861","display_name":"Cellular differentiation","level":3,"score":0.2563999891281128},{"id":"https://openalex.org/C108619961","wikidata":"https://www.wikidata.org/wiki/Q5173281","display_name":"Corticogenesis","level":4,"score":0.2533000111579895},{"id":"https://openalex.org/C121912465","wikidata":"https://www.wikidata.org/wiki/Q3589153","display_name":"Epigenomics","level":5,"score":0.25270000100135803},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.2513999938964844}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.euroneuro.2025.08.413","doi":"https://doi.org/10.1016/j.euroneuro.2025.08.413","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.euroneuro.2025.08.413","pdf_url":null,"source":{"id":"https://openalex.org/S168041952","display_name":"European Neuropsychopharmacology","issn_l":"0924-977X","issn":["0924-977X","1873-7862"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","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":"European Neuropsychopharmacology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7221465274","https://openalex.org/W4414276006","https://openalex.org/W7116356218","https://openalex.org/W7213940124","https://openalex.org/W4414824678","https://openalex.org/W4252727866","https://openalex.org/W3017776636","https://openalex.org/W4229023797","https://openalex.org/W4408986111","https://openalex.org/W7172404361"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}