{"id":"https://openalex.org/W2077908334","doi":"https://doi.org/10.1136/jmedgenet-2015-103027","title":"Loss-of-function de novo mutations play an important role in severe human neural tube defects","display_name":"Loss-of-function de novo mutations play an important role in severe human neural tube defects","publication_year":2015,"publication_date":"2015-03-24","ids":{"openalex":"https://openalex.org/W2077908334","doi":"https://doi.org/10.1136/jmedgenet-2015-103027","mag":"2077908334","pmid":"https://pubmed.ncbi.nlm.nih.gov/25805808"},"language":"en","primary_location":{"id":"doi:10.1136/jmedgenet-2015-103027","doi":"https://doi.org/10.1136/jmedgenet-2015-103027","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2015-103027","pdf_url":"https://jmg.bmj.com/content/jmedgenet/52/7/493.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/52/7/493.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108641015","display_name":"Philippe Lemay","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"]},{"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 Lemay","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048447291","display_name":"Marie\u2010Claude Guyot","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"]},{"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":"Marie-Claude Guyot","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":null,"display_name":"\u00c9lizabeth Tremblay","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"]},{"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":"\u00c9lizabeth Tremblay","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112311925","display_name":"Alexandre Dionne\u2010Laporte","orcid":null,"observed_orcids":[]},"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":"Alexandre Dionne-Laporte","raw_affiliation_strings":["Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","Montreal Neurological Institute, Mcgill University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Montreal Neurological Institute, Mcgill University","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070319261","display_name":"Dan Spiegelman","orcid":"https://orcid.org/0000-0003-4971-8868","observed_orcids":["https://orcid.org/0000-0003-4971-8868"]},"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":"Dan Spiegelman","raw_affiliation_strings":["Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","Montreal Neurological Institute, Mcgill University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Montreal Neurological Institute, Mcgill University","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075588220","display_name":"\u00c9douard Henrion","orcid":null,"observed_orcids":[]},"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":"\u00c9douard Henrion","raw_affiliation_strings":["Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","Montreal Neurological Institute, Mcgill University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Montreal Neurological Institute, Mcgill University","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ousmane Diallo","orcid":null,"observed_orcids":[]},"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":"Ousmane Diallo","raw_affiliation_strings":["Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","Montreal Neurological Institute, Mcgill University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Montreal Neurological Institute, Mcgill University","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026006421","display_name":"Patrizia De Marco","orcid":"https://orcid.org/0000-0001-8498-3750","observed_orcids":["https://orcid.org/0000-0001-8498-3750"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Patrizia De Marco","raw_affiliation_strings":["Istituto Giannina Gaslini, Genoa, Italy","Istituto Giannina Gaslini"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto Giannina Gaslini, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291"]},{"raw_affiliation_string":"Istituto Giannina Gaslini","institution_ids":["https://openalex.org/I2801463291"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080660658","display_name":"Elisa Merello","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elisa Merello","raw_affiliation_strings":["Istituto Giannina Gaslini, Genoa, Italy","Istituto Giannina Gaslini"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto Giannina Gaslini, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291"]},{"raw_affiliation_string":"Istituto Giannina Gaslini","institution_ids":["https://openalex.org/I2801463291"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091604035","display_name":"Christine Massicotte","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"]},{"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":"Christine Massicotte","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045364040","display_name":"Val\u00e9rie Anne D\u00e9silets","orcid":"https://orcid.org/0000-0001-7399-119X","observed_orcids":["https://orcid.org/0000-0001-7399-119X"]},"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"]},{"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":"Val\u00e9rie D\u00e9silets","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"author_position":"middle","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"]},{"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":"Jacques L Michaud","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]},{"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, Montr\u00e9al, Qu\u00e9bec, Canada","Montreal Neurological Institute, Mcgill University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Neurological Institute, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Montreal Neurological Institute, Mcgill University","institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030682695","display_name":"Valeria Capra","orcid":"https://orcid.org/0000-0002-3097-0388","observed_orcids":["https://orcid.org/0000-0002-3097-0388"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Valeria Capra","raw_affiliation_strings":["Istituto Giannina Gaslini, Genoa, Italy","Istituto Giannina Gaslini"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto Giannina Gaslini, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291"]},{"raw_affiliation_string":"Istituto Giannina Gaslini","institution_ids":["https://openalex.org/I2801463291"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013132249","display_name":"Zoha Kibar","orcid":"https://orcid.org/0009-0004-6554-0339","observed_orcids":["https://orcid.org/0009-0004-6554-0339","https://orcid.org/0000-0002-6743-049X"]},"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"]},{"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":true,"raw_author_name":"Zoha Kibar","raw_affiliation_strings":["CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]},{"raw_affiliation_string":"CHU Ste-Justine Research Center, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al","institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5013132249"],"corresponding_institution_ids":["https://openalex.org/I4405268511","https://openalex.org/I70931966"],"apc_list":null,"apc_paid":null,"fwci":4.9297,"has_fulltext":true,"cited_by_count":76,"citation_normalized_percentile":{"value":0.95778851,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"52","issue":"7","first_page":"493","last_page":"497"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.975600004196167,"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"}},"topics":[{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.975600004196167,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.005499999970197678,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.00139999995008111,"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/neural-tube-defects","display_name":"neural tube defects","score":0.996999979019165},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7979999780654907},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9559999704360962},{"id":"https://openalex.org/keywords/anencephaly","display_name":"anencephaly","score":0.9350000023841858},{"id":"https://openalex.org/keywords/myelomeningocele","display_name":"myelomeningocele","score":0.9639999866485596},{"id":"https://openalex.org/keywords/spina-bifida","display_name":"spina bifida","score":0.9670000076293945},{"id":"https://openalex.org/keywords/shroom3","display_name":"SHROOM3","score":0.9750000238418579},{"id":"https://openalex.org/keywords/pax3","display_name":"Pax3","score":0.9470000267028809},{"id":"https://openalex.org/keywords/grhl3","display_name":"GRHL3","score":0.996999979019165},{"id":"https://openalex.org/keywords/ptprs","display_name":"PTPRS","score":0.9990000128746033},{"id":"https://openalex.org/keywords/neural-tube-closure","display_name":"neural tube closure","score":0.7760000228881836},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.6019999980926514}],"concepts":[{"id":"https://openalex.org/C2776394550","wikidata":"https://www.wikidata.org/wiki/Q529292","display_name":"Anencephaly","level":4,"score":0.7885926961898804},{"id":"https://openalex.org/C2780594696","wikidata":"https://www.wikidata.org/wiki/Q1127402","display_name":"Neural tube","level":3,"score":0.750704824924469},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6975085139274597},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6286937594413757},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.5694930553436279},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5439931154251099},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.48394539952278137},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3512111008167267},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2818719744682312},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.13355189561843872},{"id":"https://openalex.org/C196843134","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryo","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000072041","descriptor_name":"PAX3 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009436","descriptor_name":"Neural Tube Defects","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051761","descriptor_name":"Paired Box Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054623","descriptor_name":"Receptor-Like Protein Tyrosine Phosphatases, Class 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1136/jmedgenet-2015-103027","doi":"https://doi.org/10.1136/jmedgenet-2015-103027","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2015-103027","pdf_url":"https://jmg.bmj.com/content/jmedgenet/52/7/493.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:25805808","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25805808","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":"Journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1136/jmedgenet-2015-103027","doi":"https://doi.org/10.1136/jmedgenet-2015-103027","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2015-103027","pdf_url":"https://jmg.bmj.com/content/jmedgenet/52/7/493.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1493026204","display_name":null,"funder_award_id":"88413","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G2304310076","display_name":null,"funder_award_id":"130411","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G7808539096","display_name":null,"funder_award_id":"CRI88413","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G7934832246","display_name":"Identification and characterization of genes predisposing to neural tube defects in humans","funder_award_id":"130411_1","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"}],"funders":[{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"},{"id":"https://openalex.org/F4320338075","display_name":"Core Research for Evolutional Science and Technology","ror":"https://ror.org/00097mb19"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2077908334.pdf","grobid_xml":"https://content.openalex.org/works/W2077908334.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1967164347","https://openalex.org/W1971428031","https://openalex.org/W1977746264","https://openalex.org/W1978529327","https://openalex.org/W2008627757","https://openalex.org/W2017869558","https://openalex.org/W2029425286","https://openalex.org/W2048151432","https://openalex.org/W2051394972","https://openalex.org/W2066461313","https://openalex.org/W2080404126","https://openalex.org/W2108861416","https://openalex.org/W2127367210","https://openalex.org/W2131104106","https://openalex.org/W2137500327","https://openalex.org/W2138014988","https://openalex.org/W2141220224","https://openalex.org/W2146128933","https://openalex.org/W2148707533","https://openalex.org/W2160101621","https://openalex.org/W2164400934","https://openalex.org/W4237533794"],"related_works":["https://openalex.org/W2788969806","https://openalex.org/W3039168928","https://openalex.org/W4408866610","https://openalex.org/W2160951420","https://openalex.org/W3811461","https://openalex.org/W3153530726","https://openalex.org/W2398272019","https://openalex.org/W2807122239","https://openalex.org/W2774242548","https://openalex.org/W2868252501"],"abstract_inverted_index":{"BACKGROUND:":[0],"Neural":[1],"tube":[2,19],"defects":[3,11],"(NTDs)":[4],"are":[5,13,31],"very":[6],"common":[7],"and":[8,21,28,38,64,146,163,171,188],"severe":[9,32],"birth":[10],"that":[12,22,34],"caused":[14],"by":[15],"failure":[16],"of":[17,83,88,95,131,180,186],"neural":[18],"closure":[20],"have":[23,126],"a":[24,40,92,128],"complex":[25],"aetiology.":[26,49,194],"Anencephaly":[27],"spina":[29],"bifida":[30],"NTDs":[33,120,138,187],"affect":[35],"reproductive":[36],"fitness":[37],"suggest":[39],"role":[41,179],"for":[42],"de":[43],"novo":[44],"mutations":[45],"(DNMs)":[46],"in":[47,55,71,80,98,111,115,122,134,137,161,169,183,192],"their":[48,65,72],"METHODS:":[50],"We":[51,75,125,155],"used":[52],"whole-exome":[53],"sequencing":[54],"43":[56],"sporadic":[57],"cases":[58,114],"affected":[59],"with":[60,102,119,140],"myelomeningocele":[61],"or":[62],"anencephaly":[63],"unaffected":[66],"parents":[67],"to":[68,147],"identify":[69],"DNMs":[70,79,110,133,168,182],"exomes.":[73],"RESULTS:":[74],"identified":[76,107,157],"42":[77],"coding":[78],"25":[81],"cases,":[82],"which":[84],"6":[85],"were":[86],"loss":[87],"function":[89],"(LoF)":[90],"showing":[91],"higher":[93],"rate":[94,145,150],"LoF":[96,132,181],"DNM":[97,144,149,160],"our":[99],"cohort":[100],"compared":[101,139],"control":[103,153],"cohorts.":[104,154],"Notably,":[105],"we":[106],"two":[108,112,164],"protein-truncating":[109],"independent":[113],"SHROOM3,":[116],"previously":[117],"associated":[118],"only":[121],"animal":[123],"models.":[124],"demonstrated":[127],"significant":[129],"enrichment":[130],"this":[135],"gene":[136,142],"the":[141,148,184],"specific":[143],"estimated":[151],"from":[152],"also":[156],"one":[158],"nonsense":[159],"PAX3":[162],"potentially":[165],"causative":[166],"missense":[167],"GRHL3":[170],"PTPRS.":[172],"CONCLUSIONS:":[173],"Our":[174],"study":[175],"demonstrates":[176],"an":[177],"important":[178],"development":[185],"strongly":[189],"implicates":[190],"SHROOM3":[191],"its":[193]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":11},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}