{"id":"https://openalex.org/W7223007654","doi":"https://doi.org/10.1111/cge.70265","title":"Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series","display_name":"Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series","publication_year":2026,"publication_date":"2026-10-20","ids":{"openalex":"https://openalex.org/W7223007654","doi":"https://doi.org/10.1111/cge.70265","pmid":"https://pubmed.ncbi.nlm.nih.gov/42899323"},"language":"en","primary_location":{"id":"doi:10.1111/cge.70265","doi":"https://doi.org/10.1111/cge.70265","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.70265","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70265","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70265","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012430170","display_name":"Romain Nicolle","orcid":"https://orcid.org/0000-0001-8578-9095","observed_orcids":["https://orcid.org/0000-0001-8578-9095"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Romain Nicolle","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":"https://orcid.org/0000-0001-8578-9095","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158766208","display_name":"Laurence Loeuillet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Laurence Loeuillet","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111614781","display_name":"Bettina Bessi\u00e8res","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Bettina Bessieres","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083406918","display_name":"Lucile Boutaud","orcid":"https://orcid.org/0000-0003-0767-2822","observed_orcids":["https://orcid.org/0000-0003-0767-2822"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lucile Boutaud","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":"https://orcid.org/0000-0003-0767-2822","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037127338","display_name":"Sarah Grotto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086685","display_name":"H\u00f4pital Armand-Trousseau","ror":"https://ror.org/00yfbr841","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sarah Grotto","raw_affiliation_strings":["UF de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs AP\u2010HP, H\u00f4pital Trousseau  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UF de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs AP\u2010HP, H\u00f4pital Trousseau  Paris France","institution_ids":["https://openalex.org/I4210086685","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073331682","display_name":"Nicolas Bourgon","orcid":"https://orcid.org/0000-0003-3093-4085","observed_orcids":["https://orcid.org/0000-0003-3093-4085"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Bourgon","raw_affiliation_strings":["Department of Obstetrics and Fetal Medicine AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France"],"raw_orcid":"https://orcid.org/0000-0003-3093-4085","affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Fetal Medicine AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159156532","display_name":"Maryse Bonniere","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Maryse Bonniere","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080198386","display_name":"J\u00e9l\u00e9na Martinovic","orcid":"https://orcid.org/0000-0003-4595-7271","observed_orcids":["https://orcid.org/0000-0003-4595-7271"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jelena Martinovic","raw_affiliation_strings":["Unit of Fetal Pathology AP\u2010HP, Antoine Becl\u00e8re Hospital, Paris Saclay University  Clamart France"],"raw_orcid":"https://orcid.org/0000-0003-4595-7271","affiliations":[{"raw_affiliation_string":"Unit of Fetal Pathology AP\u2010HP, Antoine Becl\u00e8re Hospital, Paris Saclay University  Clamart France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210150149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076961196","display_name":"Aude Tessier","orcid":"https://orcid.org/0000-0002-7596-4686","observed_orcids":["https://orcid.org/0000-0002-7596-4686"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aude Tessier","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":"https://orcid.org/0000-0002-7596-4686","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112213137","display_name":"N. Roux","orcid":"https://orcid.org/0000-0002-2366-2344","observed_orcids":["https://orcid.org/0000-0002-2366-2344"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nathalie Roux","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":"https://orcid.org/0000-0002-2366-2344","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023665527","display_name":"Giulia Petrilli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Giulia Petrilli","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010451632","display_name":"Na\u00efma Talhi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197681013","display_name":"Universit\u00e9 Paris-Est Cr\u00e9teil","ror":"https://ror.org/05ggc9x40","country_code":"FR","type":"education","lineage":["https://openalex.org/I197681013","https://openalex.org/I2800365227"]},{"id":"https://openalex.org/I4210159273","display_name":"H\u00f4pital Intercommunal de Cr\u00e9teil","ror":"https://ror.org/04n1nkp35","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210159273"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Naima Talhi","raw_affiliation_strings":["Service D'anatomie Pathologique Centre Hospitalier Intercommunal de Cr\u00e9teil, Universit\u00e9 Paris\u2010Est Cr\u00e9teil  Cr\u00e9teil France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service D'anatomie Pathologique Centre Hospitalier Intercommunal de Cr\u00e9teil, Universit\u00e9 Paris\u2010Est Cr\u00e9teil  Cr\u00e9teil France","institution_ids":["https://openalex.org/I197681013","https://openalex.org/I4210159273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020080566","display_name":"Marion Lesieur\u2010Sebellin","orcid":"https://orcid.org/0000-0001-5046-0150","observed_orcids":["https://orcid.org/0000-0001-5046-0150"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marion Lesieur\u2010Sebellin","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032587501","display_name":"J\u00e9r\u00e9my Bertrand","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J\u00e9r\u00e9my Bertrand","raw_affiliation_strings":["Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037177626","display_name":"Ana\u00efs L\u2019Haridon","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ana\u00efs L'haridon","raw_affiliation_strings":["Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009133084","display_name":"Aur\u00e9lie Coussement","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092774","display_name":"H\u00f4pital Cochin","ror":"https://ror.org/00ph8tk69","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210092774","https://openalex.org/I4210097159","https://openalex.org/I4210124464"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aur\u00e9lie Coussement","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique Des Maladies de Syst\u00e8me et D'Organes AP\u2010HP, H\u00f4pital Cochin  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique Des Maladies de Syst\u00e8me et D'Organes AP\u2010HP, H\u00f4pital Cochin  Paris France","institution_ids":["https://openalex.org/I4210092774"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113772119","display_name":"Marie\u2010Laure Maurin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie\u2010Laure Maurin","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110289422","display_name":"M Beaujard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie\u2010Paule Beaujard","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023003876","display_name":"Val\u00e9rie Malan","orcid":"https://orcid.org/0000-0002-3450-4958","observed_orcids":["https://orcid.org/0000-0002-3450-4958"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Malan","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":"https://orcid.org/0000-0002-3450-4958","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159120768","display_name":"F\u00e9recht\u00e9 Razavi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F\u00e9recht\u00e9 Razavi","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001445148","display_name":"Tania Atti\u00e9\u2010Bitach","orcid":"https://orcid.org/0000-0002-1155-3626","observed_orcids":["https://orcid.org/0000-0002-1155-3626"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Tania Attie\u2010Bitach","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France"],"raw_orcid":"https://orcid.org/0000-0002-1155-3626","affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, Service de M\u00e9decine G\u00e9nomique des Maladies Rares AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Imagine Institute, Genetics and Development of the Cerebral Cortex INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9  Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Laboratoire de Biologie M\u00e9dicale SeqOIA  Paris France","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":{"value":4980,"currency":"USD","value_usd":4980},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.83038938,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9994999766349792,"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"}},{"id":"https://openalex.org/T11406","display_name":"Cerebrospinal fluid and hydrocephalus","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/ventricular-dilation","display_name":"ventriculomegaly","score":0.9190000295639038},{"id":"https://openalex.org/keywords/fetal-brain-anomalies","display_name":"fetal brain anomalies","score":0.7350000143051147},{"id":"https://openalex.org/keywords/cerebrospinal-fluid-outflow-obstruction","display_name":"cerebrospinal fluid outflow obstruction","score":0.8700000047683716},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6050000190734863},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8309999704360962},{"id":"https://openalex.org/keywords/neuropathology","display_name":"neuropathology","score":0.7369999885559082},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.5049999952316284}],"concepts":[{"id":"https://openalex.org/C2776212519","wikidata":"https://www.wikidata.org/wiki/Q17146272","display_name":"Ventriculomegaly","level":4,"score":0.9175999760627747},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.7473999857902527},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.704800009727478},{"id":"https://openalex.org/C2776820357","wikidata":"https://www.wikidata.org/wiki/Q623016","display_name":"Cerebral aqueduct","level":3,"score":0.5575000047683716},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.47690001130104065},{"id":"https://openalex.org/C2779812711","wikidata":"https://www.wikidata.org/wiki/Q5319415","display_name":"Dysgenesis","level":2,"score":0.474700003862381},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4697999954223633},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.45559999346733093},{"id":"https://openalex.org/C58693492","wikidata":"https://www.wikidata.org/wiki/Q551875","display_name":"Neuroimaging","level":2,"score":0.4343000054359436},{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.41110000014305115},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.4106999933719635},{"id":"https://openalex.org/C2781156865","wikidata":"https://www.wikidata.org/wiki/Q827023","display_name":"Lesion","level":2,"score":0.3878999948501587},{"id":"https://openalex.org/C2993827019","wikidata":"https://www.wikidata.org/wiki/Q105402","display_name":"Cerebral ventricle","level":2,"score":0.3546999990940094},{"id":"https://openalex.org/C2780744974","wikidata":"https://www.wikidata.org/wiki/Q1929623","display_name":"Lateral ventricles","level":2,"score":0.33239999413490295},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.319599986076355},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3010999858379364},{"id":"https://openalex.org/C2778134817","wikidata":"https://www.wikidata.org/wiki/Q193003","display_name":"Hydrocephalus","level":2,"score":0.3000999987125397},{"id":"https://openalex.org/C2781223406","wikidata":"https://www.wikidata.org/wiki/Q105402","display_name":"Ventricular system","level":3,"score":0.28839999437332153},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.27810001373291016},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2766999900341034},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2720000147819519},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.25859999656677246},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.2556000053882599}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1111/cge.70265","doi":"https://doi.org/10.1111/cge.70265","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.70265","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70265","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:42899323","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42899323","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":"Clinical genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1111/cge.70265","doi":"https://doi.org/10.1111/cge.70265","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cge.70265","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70265","source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223007654.pdf","grobid_xml":"https://content.openalex.org/works/W7223007654.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1676715256","https://openalex.org/W1965691313","https://openalex.org/W1996969966","https://openalex.org/W2001031298","https://openalex.org/W2007593854","https://openalex.org/W2012029881","https://openalex.org/W2016756483","https://openalex.org/W2028041792","https://openalex.org/W2051978340","https://openalex.org/W2065504692","https://openalex.org/W2131206286","https://openalex.org/W2161289375","https://openalex.org/W2580719947","https://openalex.org/W2599641104","https://openalex.org/W2820211840","https://openalex.org/W2945048268","https://openalex.org/W2951886469","https://openalex.org/W2959395523","https://openalex.org/W2981030064","https://openalex.org/W3034711229","https://openalex.org/W4200227591","https://openalex.org/W4205370111","https://openalex.org/W4213253731","https://openalex.org/W4295478815","https://openalex.org/W4308633774","https://openalex.org/W4399053922","https://openalex.org/W4399355375","https://openalex.org/W4412552178","https://openalex.org/W7167685374"],"related_works":["https://openalex.org/W4283165227","https://openalex.org/W2060007760","https://openalex.org/W4402360234","https://openalex.org/W3205878437","https://openalex.org/W2421036246","https://openalex.org/W2373068758","https://openalex.org/W4308891421","https://openalex.org/W2060407652","https://openalex.org/W7098173572","https://openalex.org/W3207830130"],"abstract_inverted_index":{"Fetal":[0],"cerebral":[1,22,104],"ventriculomegalies":[2],"are":[3,12,27,151,160],"brain":[4,166],"anomalies":[5],"with":[6,20,103],"potentially":[7],"poor":[8],"neurodevelopmental":[9],"prognosis.":[10],"They":[11],"amenable":[13],"to":[14,30,72,81,107],"prenatal":[15],"imaging,":[16],"isolated":[17],"or":[18,33],"associated":[19],"other":[21],"and/or":[23],"extra-cerebral":[24],"abnormalities.":[25],"Most":[26],"obstructive":[28],"due":[29],"a":[31,52,97],"focal":[32],"diffuse":[34],"dysgenesis":[35],"of":[36,57,60,85,100,148,165,180,189,195],"the":[37,41,48,55,58,83,149,163,187,193],"ventricular":[38],"system,":[39],"disturbing":[40],"cerebro-spinal":[42],"fluid":[43],"outflow.":[44],"Triventricular":[45],"dilatation":[46],"is":[47],"most":[49,159],"common,":[50],"predicting":[51],"lesion":[53],"at":[54],"level":[56],"aqueduct":[59],"Sylvius":[61],"(AS).":[62],"Although":[63],"variants":[64],"in":[65,123,154,199],"several":[66],"genes":[67],"have":[68],"recently":[69],"been":[70,121],"linked":[71,106],"ventriculomegaly,":[73],"their":[74,155],"role":[75],"remains":[76],"unclear,":[77],"compromising":[78],"our":[79],"ability":[80],"predict":[82],"impact":[84],"such":[86],"variations":[87],"when":[88],"detected":[89],"prenatally.":[90],"To":[91],"go":[92],"further,":[93],"we":[94],"report":[95],"here":[96],"monocentric":[98],"cohort":[99],"51":[101],"fetuses":[102],"ventriculomegaly":[105],"dysgenetic":[108],"AS":[109,150],"and":[110,134,143,157,175,183,192],"discuss":[111],"phenotype/genotype":[112],"correlations":[113],"after":[114],"neuropathological":[115,176],"study.":[116],"A":[117],"genetic":[118,129],"cause":[119],"has":[120],"identified":[122],"15":[124],"cases":[125],"(29.4%)":[126],"using":[127],"different":[128],"methods":[130],"available":[131],"between":[132],"1992":[133],"2021:":[135],"standard":[136],"karyotyping,":[137],"targeted":[138],"mutation":[139],"screening":[140],"(Sanger":[141],"sequencing),":[142],"Next":[144],"Generation":[145],"Sequencing.":[146],"Dysgeneses":[147],"still":[152],"controversial":[153],"nosology":[156],"etiology;":[158],"discussed":[161],"on":[162],"basis":[164],"imaging":[167],"findings":[168],"alone.":[169],"In":[170],"this":[171],"series,":[172],"complete":[173],"fetal":[174],"examination":[177],"allowed":[178],"detection":[179],"key":[181],"clinical":[182],"histopathological":[184],"clues,":[185],"allowing":[186],"orientation":[188],"molecular":[190],"screenings":[191],"identification":[194],"cellular":[196],"mechanisms":[197],"involved":[198],"triventricular":[200],"dilatations.":[201]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2026-10-21T00:00:00"}