{"id":"https://openalex.org/W4385669754","doi":"https://doi.org/10.1192/j.eurpsy.2023.1879","title":"Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies","display_name":"Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies","publication_year":2023,"publication_date":"2023-03-01","ids":{"openalex":"https://openalex.org/W4385669754","doi":"https://doi.org/10.1192/j.eurpsy.2023.1879","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10479214"},"language":"en","primary_location":{"id":"doi:10.1192/j.eurpsy.2023.1879","doi":"https://doi.org/10.1192/j.eurpsy.2023.1879","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1192/j.eurpsy.2023.1879","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/ECA879E773F58372A08C2ECDDB30E596/S0924933823018795a.pdf/div-class-title-diagnostic-yield-of-chromosomal-microarray-and-trio-whole-exome-sequencing-in-congenital-brain-anomalies-div.pdf","source":{"id":"https://openalex.org/S87202501","display_name":"European Psychiatry","issn_l":"0924-9338","issn":["0924-9338","1778-3585"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Psychiatry","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/ECA879E773F58372A08C2ECDDB30E596/S0924933823018795a.pdf/div-class-title-diagnostic-yield-of-chromosomal-microarray-and-trio-whole-exome-sequencing-in-congenital-brain-anomalies-div.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054721841","display_name":"\u0415. \u0410. \u0424\u043e\u043d\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-1338-5451","observed_orcids":["https://orcid.org/0000-0002-1338-5451"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"E. A. Fonova","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001633647","display_name":"\u0410. \u0410. \u041a\u0430\u0448\u0435\u0432\u0430\u0440\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-0716-4302","observed_orcids":["https://orcid.org/0000-0002-0716-4302"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"A. A. Kashevarova","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056820940","display_name":"\u041c. \u0415. \u041b\u043e\u043f\u0430\u0442\u043a\u0438\u043d\u0430","orcid":"https://orcid.org/0000-0002-7051-3472","observed_orcids":["https://orcid.org/0000-0002-7051-3472"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"M. E. Lopatkina","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003260293","display_name":"A. A. Sivtsev","orcid":"https://orcid.org/0000-0002-1670-2942","observed_orcids":["https://orcid.org/0000-0002-1670-2942"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"A. A. Sivtsev","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000668794","display_name":"\u0410. \u0410. \u0417\u0430\u0440\u0443\u0431\u0438\u043d","orcid":"https://orcid.org/0000-0001-6568-6339","observed_orcids":["https://orcid.org/0000-0001-6568-6339"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"A. A. Zarubin","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012329801","display_name":"Victoria V. Demeneva","orcid":"https://orcid.org/0000-0002-5315-4914","observed_orcids":["https://orcid.org/0000-0002-5315-4914"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"V. V. Demeneva","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001698637","display_name":"Gulnara Narimanovna Seitova","orcid":"https://orcid.org/0000-0002-8421-1416","observed_orcids":["https://orcid.org/0000-0002-8421-1416","https://orcid.org/0000-0002-1218-6071"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"G. N. Seitova","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041502993","display_name":"L. I. Minaycheva","orcid":"https://orcid.org/0000-0002-1752-2521","observed_orcids":["https://orcid.org/0000-0002-1752-2521"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"L. I. Minaycheva","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069774485","display_name":"Olga A. Salyukova","orcid":"https://orcid.org/0000-0002-8922-3635","observed_orcids":["https://orcid.org/0000-0002-8922-3635"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"O. A. Salyukova","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029980864","display_name":"\u0421. \u0412. \u0424\u0430\u0434\u044e\u0448\u0438\u043d\u0430","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"S. V. Fadyushina","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":null,"display_name":"V. V. Petrova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"V. V. Petrova","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023253630","display_name":"Elena O. Belyaeva","orcid":"https://orcid.org/0000-0003-4956-5689","observed_orcids":["https://orcid.org/0000-0003-4956-5689"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"E. O. Belyaeva","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042633100","display_name":"\u041b. \u041f. \u041d\u0430\u0437\u0430\u0440\u0435\u043d\u043a\u043e","orcid":"https://orcid.org/0000-0002-1861-433X","observed_orcids":["https://orcid.org/0000-0002-1861-433X"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"L. P. Nazarenko","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033830769","display_name":"\u0418. \u041d. \u041b\u0435\u0431\u0435\u0434\u0435\u0432","orcid":"https://orcid.org/0000-0002-0482-8046","observed_orcids":["https://orcid.org/0000-0002-0482-8046"]},"institutions":[{"id":"https://openalex.org/I4210118499","display_name":"Tomsk National Research Medical Center","ror":"https://ror.org/01z0w8p93","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210118499"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"I. N. Lebedev","raw_affiliation_strings":["Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation","institution_ids":["https://openalex.org/I4210118499"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5054721841"],"corresponding_institution_ids":["https://openalex.org/I4210118499"],"apc_list":{"value":2785,"currency":"USD","value_usd":2785},"apc_paid":{"value":2785,"currency":"USD","value_usd":2785},"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"66","issue":"S1","first_page":"S887","last_page":"S887"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7378000020980835,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.7378000020980835,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.1941000074148178,"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":0.03779999911785126,"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/congenital-brain-anomalies","display_name":"congenital brain anomalies","score":0.972000002861023},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.996999979019165},{"id":"https://openalex.org/keywords/chromosomal-microarray","display_name":"chromosomal microarray analysis","score":0.9129999876022339},{"id":"https://openalex.org/keywords/trio-exome-sequencing","display_name":"trio exome sequencing","score":0.9520000219345093},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9120000004768372},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8180000185966492},{"id":"https://openalex.org/keywords/reelin","display_name":"reelin","score":0.6679999828338623},{"id":"https://openalex.org/keywords/dync1h1","display_name":"DYNC1H1","score":0.9570000171661377},{"id":"https://openalex.org/keywords/macf1","display_name":"MACF1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cdkl5","display_name":"CDKL5","score":0.996999979019165},{"id":"https://openalex.org/keywords/developmental-and-epileptic-encephalopathy","display_name":"developmental and epileptic encephalopathy","score":0.7409999966621399},{"id":"https://openalex.org/keywords/agenesis-of-the-corpus-callosum","display_name":"agenesis of the corpus callosum","score":0.8209999799728394},{"id":"https://openalex.org/keywords/lissencephaly","display_name":"lissencephaly","score":0.8709999918937683},{"id":"https://openalex.org/keywords/pachygyria","display_name":"pachygyria","score":0.8970000147819519},{"id":"https://openalex.org/keywords/polymicrogyria","display_name":"polymicrogyria","score":0.9100000262260437}],"concepts":[{"id":"https://openalex.org/C2781152150","wikidata":"https://www.wikidata.org/wiki/Q17163513","display_name":"Pachygyria","level":4,"score":0.9308213591575623},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.7851260304450989},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7378840446472168},{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.7277477979660034},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6994192600250244},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.681044340133667},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6454359889030457},{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.6425799131393433},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5942160487174988},{"id":"https://openalex.org/C2778596996","wikidata":"https://www.wikidata.org/wiki/Q2991265","display_name":"Polymicrogyria","level":3,"score":0.5924835205078125},{"id":"https://openalex.org/C2780787877","wikidata":"https://www.wikidata.org/wiki/Q1135124","display_name":"Agenesis of the corpus callosum","level":3,"score":0.583942174911499},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5775632858276367},{"id":"https://openalex.org/C2781121353","wikidata":"https://www.wikidata.org/wiki/Q1457267","display_name":"Schizencephaly","level":3,"score":0.5150782465934753},{"id":"https://openalex.org/C2909954419","wikidata":"https://www.wikidata.org/wiki/Q1135124","display_name":"Corpus Callosum Agenesis","level":3,"score":0.5054159164428711},{"id":"https://openalex.org/C2779674439","wikidata":"https://www.wikidata.org/wiki/Q25312637","display_name":"Global developmental delay","level":4,"score":0.44672995805740356},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4184279143810272},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3405458331108093},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2611706256866455},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.23891869187355042},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.1381608247756958},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.10408136248588562},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1192/j.eurpsy.2023.1879","doi":"https://doi.org/10.1192/j.eurpsy.2023.1879","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1192/j.eurpsy.2023.1879","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/ECA879E773F58372A08C2ECDDB30E596/S0924933823018795a.pdf/div-class-title-diagnostic-yield-of-chromosomal-microarray-and-trio-whole-exome-sequencing-in-congenital-brain-anomalies-div.pdf","source":{"id":"https://openalex.org/S87202501","display_name":"European Psychiatry","issn_l":"0924-9338","issn":["0924-9338","1778-3585"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Psychiatry","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10479214","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10479214","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10479214/pdf/S0924933823018795a.pdf","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur Psychiatry","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:e9e76720658348708ac7cc6e1188419a","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/e9e76720658348708ac7cc6e1188419a","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Psychiatry, Vol 66, Pp S887-S887 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1192/j.eurpsy.2023.1879","doi":"https://doi.org/10.1192/j.eurpsy.2023.1879","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1192/j.eurpsy.2023.1879","pdf_url":"https://www.cambridge.org/core/services/aop-cambridge-core/content/view/ECA879E773F58372A08C2ECDDB30E596/S0924933823018795a.pdf/div-class-title-diagnostic-yield-of-chromosomal-microarray-and-trio-whole-exome-sequencing-in-congenital-brain-anomalies-div.pdf","source":{"id":"https://openalex.org/S87202501","display_name":"European Psychiatry","issn_l":"0924-9338","issn":["0924-9338","1778-3585"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311721","host_organization_name":"Cambridge University Press","host_organization_lineage":["https://openalex.org/P4310311721","https://openalex.org/P4310311702"],"host_organization_lineage_names":["Cambridge University Press","University of Cambridge"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Psychiatry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4385669754.pdf","grobid_xml":"https://content.openalex.org/works/W4385669754.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4385670186","https://openalex.org/W2343429397","https://openalex.org/W4308523002","https://openalex.org/W2986705505","https://openalex.org/W2187177819","https://openalex.org/W4404228272","https://openalex.org/W3135822971","https://openalex.org/W1981596947","https://openalex.org/W1975682351","https://openalex.org/W2501652887"],"abstract_inverted_index":{"Introduction":[0],"The":[1,110,176,217,255,351],"deductive":[2],"method:":[3],"from":[4],"karyotyping":[5],"to":[6,26,33,121,206,246,289,332,371],"aCGH":[7,64,86],"and":[8,17,101,138,265,291,345],"WES":[9,69,111,328,367],"is":[10,31,357],"an":[11,334],"important":[12,335,360],"aspect":[13],"in":[14,128,134,172,186,210,222,232,260,308,318,337],"the":[15,20,35,162,173,192,233,269,273,277,355,358,363,373,378,395],"diagnosis":[16,59,341],"search":[18],"for":[19,42,87,115,145,158,169,303,362],"causes":[21],"of":[22,37,53,58,60,150,179,191,268,272,276,312,354,366,377,403],"intellectual":[23,61,99,208],"disability":[24,100],"due":[25],"congenital":[27,102],"brain":[28,103],"anomalies.":[29],"There":[30],"recommendation":[32],"exclude":[34],"presence":[36],"CNV":[38],"or":[39,78],"monogenic":[40],"variants":[41,114,127,140,152,171,300,314,382],"patients":[43],"with":[44,49,65,70,98,141,189,225,249,263,383],"a":[45,50,166,187,197,223,238,261,282,339],"normal":[46],"karyotype,":[47],"but":[48],"clinical":[51,143,352,385],"picture":[52],"syndromic":[54],"disease.":[55],"Objectives":[56],"Improvement":[57],"disability.":[62],"Methods":[63],"60K":[66],"Agilent":[67],"microarrays,":[68],"SureSelect":[71],"Human":[72],"All":[73,320],"Exon":[74],"V8":[75],"Results":[76],"Pathogenic":[77],"potentially":[79,301],"pathogenic":[80,126,133,180],"CNVs":[81],"were":[82,153,306,315,387],"excluded":[83],"previously":[84,388],"by":[85,394],"10":[88,139],"families":[89,94,117],"(total":[90],"32":[91],"people,":[92],"2":[93,96,294],"had":[95,348],"children)":[97],"anomalies":[104,323],"(for":[105],"example,":[106],"polymicrogyria,":[107],"pachygyria,":[108],"lissencephaly).":[109],"identified":[112,154],"candidate":[113,299],"all":[116,149],"that":[118,287],"can":[119],"lead":[120],"impaired":[122,207,266],"neurodevelopment,":[123],"including":[124],"3":[125,129,131],"families,":[130,137],"likely":[132],"three":[135],"other":[136,343],"uncertain":[142],"significance":[144,386],"4":[146],"families.":[147],"Almost":[148],"these":[151,313],"de":[155,182,325],"novo,":[156],"except":[157,321],"one":[159,322],"family,":[160],"where":[161],"proband":[163],"has":[164,329],"been":[165,330,349],"compound":[167],"heterozygous":[168],"two":[170],"RELN":[174],"gene.":[175],"first":[177],"case":[178],"mutation":[181,199],"novo":[183],"was":[184,196,220,237,258,281,392],"detected":[185,221],"girl":[188,262],"agenesis":[190],"corpus":[193,226],"callosum.":[194],"It":[195,236,280],"missense":[198,239,283,316],"DYNC1H1":[200],"(NM_001376.5):":[201],"c.4868G>A":[202],"(p.Arg1623Gln),":[203],"which":[204,244,369],"leads":[205,245,288],"development":[209],"autosomal":[211],"dominant":[212],"type":[213],"13":[214],"(OMIM":[215,253,295],"614563).":[216,254],"second":[218],"variant":[219,240,257,284],"boy":[224],"callosum":[227],"agenesis,":[228],"pontine":[229],"hypogenesis,":[230],"pachygyria":[231],"frontal":[234],"lobes.":[235],"MACF1":[241],"(ENST00000567887.5):":[242],"c.21989A>G(p.Asp7330Gly),":[243],"lissencephaly":[247],"9":[248],"complex":[250],"brainstem":[251],"malformation":[252],"third":[256],"found":[259],"epilepsy":[264],"myelination":[267],"white":[270],"matter":[271],"parietal-occipital":[274],"areas":[275],"cerebral":[278],"hemispheres.":[279],"CDKL5":[285],"(NM_001323289.2):c.404-1G>A":[286],"developmental":[290],"epileptic":[292],"encephalopathy":[293],"300672).":[296],"Conclusions":[297],"Sixteen":[298],"responsible":[302],"mental":[304],"health":[305],"reported":[307],"this":[309],"study.":[310],"Most":[311],"changes":[317],"genes.":[319],"arisen":[324],"novo.":[326],"Trio-based":[327],"shown":[331],"be":[333],"step":[336,361],"making":[338],"genetic":[340,375],"if":[342,380],"chromosomal":[344],"subchromosomal":[346],"abnormalities":[347],"excluded.":[350],"description":[353],"patient":[356],"most":[359],"correct":[364],"interpretation":[365],"results,":[368],"allows":[370],"establish":[372],"exact":[374],"cause":[376],"disease":[379],"several":[381],"unclear":[384],"identified.":[389],"This":[390],"study":[391],"supported":[393],"Russian":[396],"Science":[397],"Foundation,":[398],"grant":[399],"21-65-00017,":[400],"https://rscf.ru/project/21-65-00017/":[401],"Disclosure":[402],"Interest":[404],"None":[405],"Declared":[406]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2023-08-09T00:00:00"}