{"id":"https://openalex.org/W2747605802","doi":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","title":"ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness","display_name":"ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness","publication_year":2015,"publication_date":"2015-11-05","ids":{"openalex":"https://openalex.org/W2747605802","doi":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","mag":"2747605802"},"language":"en","primary_location":{"id":"doi:10.1016/j.ijdevneu.2015.04.319","doi":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","pdf_url":null,"source":{"id":"https://openalex.org/S198195568","display_name":"International Journal of Developmental Neuroscience","issn_l":"0736-5748","issn":["0736-5748","1873-474X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Developmental Neuroscience","raw_type":"journal-article"},"volume":null,"type":"article","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/A5102971195","display_name":"Fadi F. Hamdan","orcid":"https://orcid.org/0000-0002-0266-2476","observed_orcids":["https://orcid.org/0000-0002-0266-2476"]},"institutions":[{"id":"https://openalex.org/I4405268511","display_name":"CHU Sainte-Justine Research Center","ror":"https://ror.org/016e4fa89","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405268511"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Fadi F. Hamdan","raw_affiliation_strings":["CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I4405268511"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040150390","display_name":"Isabelle Perrault","orcid":"https://orcid.org/0000-0002-8560-1379","observed_orcids":["https://orcid.org/0000-0002-8560-1379"]},"institutions":[{"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Isabelle Perrault","raw_affiliation_strings":["INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042370047","display_name":"Marl\u00e8ne Rio","orcid":"https://orcid.org/0000-0003-2049-5058","observed_orcids":["https://orcid.org/0000-0003-2049-5058"]},"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Marl\u00e8ne Rio","raw_affiliation_strings":["Department of Genetics H\u00f4pital Necker Enfants Malades 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics H\u00f4pital Necker Enfants Malades 75015 Paris France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057436862","display_name":"Jos\u00e9\u2010Mario Capo\u2010Chichi","orcid":"https://orcid.org/0000-0002-7440-3633","observed_orcids":["https://orcid.org/0000-0002-7440-3633"]},"institutions":[{"id":"https://openalex.org/I4405268511","display_name":"CHU Sainte-Justine Research Center","ror":"https://ror.org/016e4fa89","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405268511"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jos\u00e9\u2010Mario Capo\u2010Chichi","raw_affiliation_strings":["CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I4405268511"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047685808","display_name":"Nathalie Boddaert","orcid":"https://orcid.org/0000-0003-0991-7774","observed_orcids":["https://orcid.org/0000-0003-0991-7774"]},"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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nathalie Boddaert","raw_affiliation_strings":["Department of Pediatric Radiology H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Radiology H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063974521","display_name":"Jean\u2010Claude D\u00e9carie","orcid":"https://orcid.org/0000-0002-5911-0357","observed_orcids":["https://orcid.org/0000-0002-5911-0357"]},"institutions":[{"id":"https://openalex.org/I2802351361","display_name":"Centre Hospitalier Universitaire Sainte-Justine","ror":"https://ror.org/01gv74p78","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I2802351361","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jean\u2010Claude D\u00e9carie","raw_affiliation_strings":["Department of Medical Imaging, Sainte-Justine Hospital, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Imaging, Sainte-Justine Hospital, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I2802351361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072360294","display_name":"Bruno Maranda","orcid":"https://orcid.org/0000-0002-6685-600X","observed_orcids":["https://orcid.org/0000-0002-6685-600X"]},"institutions":[{"id":"https://openalex.org/I2801825082","display_name":"Centre Hospitalier Universitaire de Sherbrooke","ror":"https://ror.org/020r51985","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801825082","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Bruno Maranda","raw_affiliation_strings":["Division of Genetics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada, J1H 5N4"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada, J1H 5N4","institution_ids":["https://openalex.org/I2801825082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008350546","display_name":"Rima Nabbout","orcid":"https://orcid.org/0000-0001-5877-4074","observed_orcids":["https://orcid.org/0000-0001-5877-4074"]},"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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Rima Nabbout","raw_affiliation_strings":["Department of Pediatric Neurology Centre de Reference Epilepsies Rares, H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Centre de Reference Epilepsies Rares, H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104858015","display_name":"Michel Sylvain","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093650","display_name":"Centre hospitalier universitaire de Qu\u00e9bec","ror":"https://ror.org/006a7pj43","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210093650","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michel Sylvain","raw_affiliation_strings":["Division of Neurology Centre Hospitalier Universitaire de Qu\u00e9bec Qu\u00e9bec Canada G1V 4G2"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology Centre Hospitalier Universitaire de Qu\u00e9bec Qu\u00e9bec Canada G1V 4G2","institution_ids":["https://openalex.org/I4210093650"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056127151","display_name":"Anne Lortie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405268511","display_name":"CHU Sainte-Justine Research Center","ror":"https://ror.org/016e4fa89","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405268511"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Anne Lortie","raw_affiliation_strings":["CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I4405268511"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059301202","display_name":"Philippe P. Roux","orcid":"https://orcid.org/0000-0002-5962-0250","observed_orcids":["https://orcid.org/0000-0002-5962-0250"]},"institutions":[{"id":"https://openalex.org/I4210096154","display_name":"Institute for Research in Immunology and Cancer","ror":"https://ror.org/00wj6x496","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4210096154"]},{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Philippe P. Roux","raw_affiliation_strings":["Institute for Research in Immunology and Cancer Universit\u00e9 de Montr\u00e9al Montreal Canada H3C 3J7"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Research in Immunology and Cancer Universit\u00e9 de Montr\u00e9al Montreal Canada H3C 3J7","institution_ids":["https://openalex.org/I4210096154","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057582530","display_name":"Elsa Rossignol","orcid":"https://orcid.org/0000-0002-9304-9385","observed_orcids":["https://orcid.org/0000-0002-9304-9385"]},"institutions":[{"id":"https://openalex.org/I4405268511","display_name":"CHU Sainte-Justine Research Center","ror":"https://ror.org/016e4fa89","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405268511"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Elsa Rossignol","raw_affiliation_strings":["CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I4405268511"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061294621","display_name":"Xavier G\u00e9rard","orcid":"https://orcid.org/0000-0003-0586-4820","observed_orcids":["https://orcid.org/0000-0003-0586-4820"]},"institutions":[{"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Xavier G\u00e9rard","raw_affiliation_strings":["INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014090979","display_name":"Giulia Barcia","orcid":"https://orcid.org/0000-0001-6657-5040","observed_orcids":["https://orcid.org/0000-0001-6657-5040"]},"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"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Giulia Barcia","raw_affiliation_strings":["Department of Pediatric Neurology Centre de Reference Epilepsies Rares, H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology Centre de Reference Epilepsies Rares, H\u00f4pital Necker\u2010Enfants Malades, APHP Descartes University 75015 Paris France","institution_ids":["https://openalex.org/I1288880153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066904892","display_name":"Patrick C. Berquin","orcid":"https://orcid.org/0009-0001-7738-5338","observed_orcids":["https://orcid.org/0009-0001-7738-5338"]},"institutions":[{"id":"https://openalex.org/I4210096553","display_name":"Centre Hospitalier Universitaire Amiens-Picardie","ror":"https://ror.org/010567a58","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210096553"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Patrick Berquin","raw_affiliation_strings":["Department of Pediatric Neurology, CHU Amiens, 80054 Amiens Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology, CHU Amiens, 80054 Amiens Cedex, France","institution_ids":["https://openalex.org/I4210096553"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029002217","display_name":"Arnold M\u00fcnnich","orcid":"https://orcid.org/0000-0001-6117-7588","observed_orcids":["https://orcid.org/0000-0001-6117-7588"]},"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Arnold Munnich","raw_affiliation_strings":["Department of Genetics H\u00f4pital Necker Enfants Malades 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics H\u00f4pital Necker Enfants Malades 75015 Paris France","institution_ids":["https://openalex.org/I1288880153"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418","https://orcid.org/0000-0002-6665-8572"]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":["Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada, H3A 2B4"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada, H3A 2B4","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078964808","display_name":"Josseline Kaplan","orcid":"https://orcid.org/0000-0002-1849-8658","observed_orcids":["https://orcid.org/0000-0002-1849-8658"]},"institutions":[{"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Josseline Kaplan","raw_affiliation_strings":["INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068947363","display_name":"Jean\u2010Michel Rozet","orcid":"https://orcid.org/0000-0001-7951-7886","observed_orcids":["https://orcid.org/0000-0001-7951-7886"]},"institutions":[{"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/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I204730241","https://openalex.org/I4210091437"]},{"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":"Jean\u2010Michel Rozet","raw_affiliation_strings":["INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM UMR 1163 Laboratory of Genetics in Ophthalmology 75015 Paris France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Paris Descartes \u2013 Sorbonne Paris Cit\u00e9 University Imagine Institute 75015 Paris France","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I4210165077"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066079083","display_name":"Jacques L. Michaud","orcid":"https://orcid.org/0000-0002-9912-0293","observed_orcids":["https://orcid.org/0000-0002-9912-0293"]},"institutions":[{"id":"https://openalex.org/I4405268511","display_name":"CHU Sainte-Justine Research Center","ror":"https://ror.org/016e4fa89","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405268511"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jacques L. Michaud","raw_affiliation_strings":["CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Sainte-Justine Research Center, Montreal, Canada, H3T 1C5","institution_ids":["https://openalex.org/I4405268511"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5102971195"],"corresponding_institution_ids":["https://openalex.org/I4405268511"],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.2478,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.64651794,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"47","issue":"Part_A","first_page":"119","last_page":"120"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.8076000213623047,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental 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/T10094","display_name":"Epilepsy research and treatment","score":0.8076000213623047,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental 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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.10689999908208847,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.013799999840557575,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dock7","display_name":"DOCK7","score":0.9829999804496765},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.8960000276565552},{"id":"https://openalex.org/keywords/epileptic-encephalopathy","display_name":"epileptic encephalopathy","score":0.9819999933242798},{"id":"https://openalex.org/keywords/cortical-blindness","display_name":"cortical blindness","score":0.9729999899864197},{"id":"https://openalex.org/keywords/congenital-blindness","display_name":"congenital blindness","score":0.5270000100135803},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.37299999594688416}],"concepts":[{"id":"https://openalex.org/C2780929884","wikidata":"https://www.wikidata.org/wiki/Q737460","display_name":"Blindness","level":2,"score":0.5185616612434387},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4966641068458557},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.42657211422920227},{"id":"https://openalex.org/C2779746230","wikidata":"https://www.wikidata.org/wiki/Q15752159","display_name":"Pediatric Neurology","level":2,"score":0.4259316623210907},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3261997699737549},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.31515052914619446},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.27281051874160767},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.09581157565116882},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ijdevneu.2015.04.319","doi":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ijdevneu.2015.04.319","pdf_url":null,"source":{"id":"https://openalex.org/S198195568","display_name":"International Journal of Developmental Neuroscience","issn_l":"0736-5748","issn":["0736-5748","1873-474X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","medline","norway-1","poland-70","russia-white-list-2"],"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Developmental Neuroscience","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3201325234","https://openalex.org/W4382798813","https://openalex.org/W2073078550","https://openalex.org/W3124762919","https://openalex.org/W2917710340","https://openalex.org/W7002495580","https://openalex.org/W4283801698","https://openalex.org/W2220042279","https://openalex.org/W4386822645","https://openalex.org/W7135241148"],"abstract_inverted_index":null,"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2017-08-31T00:00:00"}
