{"id":"https://openalex.org/W7171978607","doi":"https://doi.org/10.1038/s41380-026-03818-7","title":"Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders","display_name":"Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders","publication_year":2026,"publication_date":"2026-08-15","ids":{"openalex":"https://openalex.org/W7171978607","doi":"https://doi.org/10.1038/s41380-026-03818-7","pmid":"https://pubmed.ncbi.nlm.nih.gov/42603820"},"language":"en","primary_location":{"id":"doi:10.1038/s41380-026-03818-7","doi":"https://doi.org/10.1038/s41380-026-03818-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41380-026-03818-7","pdf_url":"https://www.nature.com/articles/s41380-026-03818-7.pdf","source":{"id":"https://openalex.org/S71149355","display_name":"Molecular Psychiatry","issn_l":"1359-4184","issn":["1359-4184","1476-5578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"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":"Molecular Psychiatry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.nature.com/articles/s41380-026-03818-7.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033404152","display_name":"Binte Zehra","orcid":"https://orcid.org/0000-0001-6429-5555","observed_orcids":["https://orcid.org/0000-0001-6429-5555"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Binte Zehra","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051624760","display_name":"Nesrin Mohamed","orcid":"https://orcid.org/0000-0001-9162-7180","observed_orcids":["https://orcid.org/0000-0001-9162-7180"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Nesrin Mohamed","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011092760","display_name":"Richa Tambi","orcid":"https://orcid.org/0000-0003-2405-2991","observed_orcids":["https://orcid.org/0000-0003-2405-2991"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Richa Tambi","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101669630","display_name":"Muhammad Faizan","orcid":"https://orcid.org/0000-0001-9417-2791","observed_orcids":["https://orcid.org/0000-0001-9417-2791","https://orcid.org/0000-0001-5570-242X","https://orcid.org/0000-0003-1332-1498"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Muhammad Faizan","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090649203","display_name":"Dharana Satsangi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Dharana Satsangi","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086131129","display_name":"Alexander D. Giddey","orcid":"https://orcid.org/0000-0002-2034-8122","observed_orcids":["https://orcid.org/0000-0002-2034-8122"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Alexander D. Giddey","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014011963","display_name":"Gilles Bru\u2010Mercier","orcid":"https://orcid.org/0000-0001-9794-9295","observed_orcids":["https://orcid.org/0000-0001-9794-9295"]},"institutions":[{"id":"https://openalex.org/I201726411","display_name":"United Arab Emirates University","ror":"https://ror.org/01km6p862","country_code":"AE","type":"education","lineage":["https://openalex.org/I201726411"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Gilles Bru-Mercier","raw_affiliation_strings":["Department of Physiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, 1777, UAE"],"raw_orcid":"https://orcid.org/0000-0001-9794-9295","affiliations":[{"raw_affiliation_string":"Department of Physiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, 1777, UAE","institution_ids":["https://openalex.org/I201726411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5147260047","display_name":"Ahmad Farhat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210137370","display_name":"Institute of Mathematics","ror":"https://ror.org/04hrrh248","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210137370","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Ahmad Farhat","raw_affiliation_strings":["Dioscuri Centre in Topological Data Analysis, Institute of Mathematics, Polish Academy of Sciences, Warsaw, 00656, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dioscuri Centre in Topological Data Analysis, Institute of Mathematics, Polish Academy of Sciences, Warsaw, 00656, Poland","institution_ids":["https://openalex.org/I4210137370","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088820116","display_name":"Nesreen K. Al\u2010Jezawi","orcid":"https://orcid.org/0009-0009-8420-8290","observed_orcids":["https://orcid.org/0009-0009-8420-8290"]},"institutions":[{"id":"https://openalex.org/I1325899441","display_name":"University Health Network","ror":"https://ror.org/042xt5161","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1325899441"]},{"id":"https://openalex.org/I2802654988","display_name":"Princess Margaret Cancer Centre","ror":"https://ror.org/03zayce58","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1325899441","https://openalex.org/I2802654988"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Nesreen K. Al-Jezawi","raw_affiliation_strings":["Princess Margaret Cancer Centre, University Health Network, Toronto, M5G 2M9, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Princess Margaret Cancer Centre, University Health Network, Toronto, M5G 2M9, Canada","institution_ids":["https://openalex.org/I1325899441","https://openalex.org/I2802654988"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025404335","display_name":"Muhammad Kumail","orcid":"https://orcid.org/0000-0003-3184-2182","observed_orcids":["https://orcid.org/0000-0003-3184-2182"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Muhammad Kumail","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011782728","display_name":"Nasna Nassir","orcid":"https://orcid.org/0000-0002-8883-9630","observed_orcids":["https://orcid.org/0000-0002-8883-9630"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Nasna Nassir","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036712656","display_name":"Bipin Balan","orcid":"https://orcid.org/0000-0002-9618-8241","observed_orcids":["https://orcid.org/0000-0002-9618-8241"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Bipin Balan","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071816046","display_name":"Noor Kosaji","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Noor Kosaji","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5126403904","display_name":"Mariam Eldesouky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Mariam Eldesouky","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5120700152","display_name":"Talal Al Yazeedi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Talal Al Yazeedi","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5117459048","display_name":"Shuhd Bineshaq","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Shuhd BinEshaq","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093129032","display_name":"Suhana Shiyas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Suhana Shiyas","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5132897509","display_name":"Nidhina Vinod","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Nidhina Vinod","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038613174","display_name":"Saif S. Alqassim","orcid":"https://orcid.org/0000-0002-1726-1587","observed_orcids":["https://orcid.org/0000-0002-1726-1587"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Saif S. Alqassim","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044616358","display_name":"Awab Ahmed","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Awab Ahmed","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5128764680","display_name":"Mohammad Amiruddin Hashmi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Mohammad Amiruddin Hashmi","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135520630","display_name":"Nelson C. Soares","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Nelson C. Soares","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5129268053","display_name":"Marc Woodbury-Smith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204722609","display_name":"Queen's University","ror":"https://ror.org/02y72wh86","country_code":"CA","type":"education","lineage":["https://openalex.org/I204722609"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Marc Woodbury-Smith","raw_affiliation_strings":["Department of Psychiatry, Queen's University, Kingston, ON, K7L 7\u00d73, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Queen's University, Kingston, ON, K7L 7\u00d73, Canada","institution_ids":["https://openalex.org/I204722609"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087642110","display_name":"Stefan S. du Plessis","orcid":"https://orcid.org/0000-0003-4617-4367","observed_orcids":["https://orcid.org/0000-0003-4617-4367","https://orcid.org/0000-0001-9750-5731"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Stefan S. Du Plessis","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016477685","display_name":"Dimitri James Stavropoulos","orcid":"https://orcid.org/0000-0001-5498-2108","observed_orcids":["https://orcid.org/0000-0001-5498-2108"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Dimitri J. Stavropoulos","raw_affiliation_strings":["Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A8, Canada","Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, M5G 1\u00d78, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A8, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, M5G 1\u00d78, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049296994","display_name":"Stephen W. Scherer","orcid":"https://orcid.org/0000-0002-8326-1999","observed_orcids":["https://orcid.org/0000-0002-8326-1999","https://orcid.org/0000-0002-3900-2367"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]},{"id":"https://openalex.org/I4405269062","display_name":"Centre for Applied Genomics","ror":"https://ror.org/02z88ma36","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405269062"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Stephen W. Scherer","raw_affiliation_strings":["Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, ON, M5S 1A8, Canada","Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1\u00d78, Canada","The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada"],"raw_orcid":"https://orcid.org/0000-0002-8326-1999","affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, ON, M5S 1A8, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 1\u00d78, Canada","institution_ids":["https://openalex.org/I2801317318"]},{"raw_affiliation_string":"The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada","institution_ids":["https://openalex.org/I2801317318","https://openalex.org/I4405269062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053927567","display_name":"Alawi A.A. Alsheikh-Ali","orcid":"https://orcid.org/0000-0002-1213-4546","observed_orcids":["https://orcid.org/0000-0002-1213-4546"]},"institutions":[{"id":"https://openalex.org/I1287366011","display_name":"Dubai Health Authority","ror":"https://ror.org/01dcrt245","country_code":"AE","type":"government","lineage":["https://openalex.org/I1287366011"]},{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Alawi Alsheikh-Ali","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","Dubai Health Authority, Dubai, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"Dubai Health Authority, Dubai, UAE","institution_ids":["https://openalex.org/I1287366011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069829600","display_name":"Reem Khalil","orcid":"https://orcid.org/0000-0002-2661-5957","observed_orcids":["https://orcid.org/0000-0002-2661-5957"]},"institutions":[{"id":"https://openalex.org/I199440890","display_name":"American University of Sharjah","ror":"https://ror.org/001g2fj96","country_code":"AE","type":"education","lineage":["https://openalex.org/I199440890"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Reem Khalil","raw_affiliation_strings":["Department of Biology, Chemistry and Environmental Sciences, American University of Sharjah, Sharjah, 26666, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Chemistry and Environmental Sciences, American University of Sharjah, Sharjah, 26666, UAE","institution_ids":["https://openalex.org/I199440890"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039589628","display_name":"Mauro Pessia","orcid":"https://orcid.org/0000-0002-2857-6795","observed_orcids":["https://orcid.org/0000-0002-2857-6795"]},"institutions":[{"id":"https://openalex.org/I201726411","display_name":"United Arab Emirates University","ror":"https://ror.org/01km6p862","country_code":"AE","type":"education","lineage":["https://openalex.org/I201726411"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Mauro Pessia","raw_affiliation_strings":["Department of Physiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, 1777, UAE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, 1777, UAE","institution_ids":["https://openalex.org/I201726411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063072126","display_name":"Maria Cristina D\u2019Adamo","orcid":"https://orcid.org/0000-0002-6758-6064","observed_orcids":["https://orcid.org/0000-0002-6758-6064"]},"institutions":[{"id":"https://openalex.org/I4210136227","display_name":"LUM Jean Monnet University","ror":"https://ror.org/03gskda23","country_code":"IT","type":"education","lineage":["https://openalex.org/I4210136227"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Maria Cristina D\u2019Adamo","raw_affiliation_strings":["Department of Medicine and Surgery, LUM University, Casamassima (BA), 70010, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Surgery, LUM University, Casamassima (BA), 70010, Italy","institution_ids":["https://openalex.org/I4210136227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023640581","display_name":"Bakhrom K. Berdiev","orcid":"https://orcid.org/0000-0001-7189-7503","observed_orcids":["https://orcid.org/0000-0001-7189-7503"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":true,"raw_author_name":"Bakhrom K. Berdiev","raw_affiliation_strings":["College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. bakhrom.berdiev@dubaihealth.ae","GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada. bakhrom.berdiev@dubaihealth.ae"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. bakhrom.berdiev@dubaihealth.ae","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada. bakhrom.berdiev@dubaihealth.ae","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016707957","display_name":"Mohammed J. Uddin","orcid":"https://orcid.org/0000-0001-6867-5803","observed_orcids":["https://orcid.org/0000-0001-6867-5803"]},"institutions":[{"id":"https://openalex.org/I4210108087","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83","country_code":"AE","type":"education","lineage":["https://openalex.org/I4210108087"]}],"countries":["AE"],"is_corresponding":true,"raw_author_name":"Mohammed Uddin","raw_affiliation_strings":["Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. mohammed.uddin@dubaihealth.ae","College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. mohammed.uddin@dubaihealth.ae","GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada. mohammed.uddin@dubaihealth.ae"],"raw_orcid":"https://orcid.org/0000-0001-6867-5803","affiliations":[{"raw_affiliation_string":"Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. mohammed.uddin@dubaihealth.ae","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, 505055, UAE. mohammed.uddin@dubaihealth.ae","institution_ids":["https://openalex.org/I4210108087"]},{"raw_affiliation_string":"GenomeArc Inc., Mississauga, ON, L4Z 1V9, Canada. mohammed.uddin@dubaihealth.ae","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5016707957","https://openalex.org/A5023640581"],"corresponding_institution_ids":["https://openalex.org/I4210108087"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":{"value":5490,"currency":"USD","value_usd":5490},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.56611068,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9872999787330627,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9872999787330627,"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/T10077","display_name":"Neuroscience and Neuropharmacology Research","score":0.00839999970048666,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.00039999998989515007,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":1.0},{"id":"https://openalex.org/keywords/cortical-neurons","display_name":"cortical neurons","score":0.8190000057220459},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.8259999752044678},{"id":"https://openalex.org/keywords/ion-channel-modulation","display_name":"ion channel modulation","score":0.6610000133514404},{"id":"https://openalex.org/keywords/synaptic-maturation","display_name":"synapse maturation","score":0.9100000262260437},{"id":"https://openalex.org/keywords/intrinsic-excitability","display_name":"intrinsic excitability","score":0.890999972820282},{"id":"https://openalex.org/keywords/sodium-channel-function","display_name":"sodium channel function","score":0.5929999947547913},{"id":"https://openalex.org/keywords/glutamatergic-signaling","display_name":"glutamatergic signaling","score":0.972000002861023},{"id":"https://openalex.org/keywords/synaptic-vesicle-recycling","display_name":"synaptic vesicle recycling","score":0.9639999866485596},{"id":"https://openalex.org/keywords/axon-guidance","display_name":"axon guidance","score":0.9100000262260437},{"id":"https://openalex.org/keywords/neuronal-differentiation","display_name":"neuronal differentiation","score":0.9049999713897705},{"id":"https://openalex.org/keywords/ipsc-derived-neurons","display_name":"iPSC-derived neurons","score":0.878000020980835},{"id":"https://openalex.org/keywords/crispr-cas9","display_name":"CRISPR/Cas9","score":0.6700000166893005},{"id":"https://openalex.org/keywords/antisense-oligonucleotides","display_name":"antisense oligonucleotides","score":0.8830000162124634},{"id":"https://openalex.org/keywords/pseudotime-trajectory-analysis","display_name":"pseudotime trajectory analysis","score":0.5239999890327454},{"id":"https://openalex.org/keywords/single-cell-transcriptomics","display_name":"single-cell transcriptomics","score":0.6769999861717224},{"id":"https://openalex.org/keywords/proteomics","display_name":"proteomics","score":0.9010000228881836}],"concepts":[{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.6628999710083008},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.6258000135421753},{"id":"https://openalex.org/C50254741","wikidata":"https://www.wikidata.org/wiki/Q62536","display_name":"Ion channel","level":3,"score":0.5515999794006348},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.5436000227928162},{"id":"https://openalex.org/C2983650178","wikidata":"https://www.wikidata.org/wiki/Q75839","display_name":"Cortical neurons","level":2,"score":0.48579999804496765},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3601999878883362},{"id":"https://openalex.org/C127162648","wikidata":"https://www.wikidata.org/wiki/Q16858953","display_name":"Channel (broadcasting)","level":2,"score":0.32269999384880066},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3109000027179718},{"id":"https://openalex.org/C2778794669","wikidata":"https://www.wikidata.org/wiki/Q43054","display_name":"Neuron","level":2,"score":0.3070000112056732},{"id":"https://openalex.org/C2781041448","wikidata":"https://www.wikidata.org/wiki/Q75839","display_name":"Cerebral cortex","level":2,"score":0.3001999855041504},{"id":"https://openalex.org/C47611674","wikidata":"https://www.wikidata.org/wiki/Q849491","display_name":"Neuroplasticity","level":2,"score":0.2985000014305115},{"id":"https://openalex.org/C200170125","wikidata":"https://www.wikidata.org/wiki/Q969316","display_name":"Neurotransmission","level":3,"score":0.29809999465942383},{"id":"https://openalex.org/C185263204","wikidata":"https://www.wikidata.org/wiki/Q1154774","display_name":"Electrophysiology","level":2,"score":0.29089999198913574},{"id":"https://openalex.org/C147944092","wikidata":"https://www.wikidata.org/wiki/Q176366","display_name":"Patch clamp","level":3,"score":0.2874999940395355},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2842999994754791},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.2806999981403351},{"id":"https://openalex.org/C2777670902","wikidata":"https://www.wikidata.org/wiki/Q492038","display_name":"Human brain","level":2,"score":0.2777000069618225},{"id":"https://openalex.org/C127445978","wikidata":"https://www.wikidata.org/wiki/Q187181","display_name":"Synapse","level":2,"score":0.2745000123977661},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.26809999346733093}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1038/s41380-026-03818-7","doi":"https://doi.org/10.1038/s41380-026-03818-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41380-026-03818-7","pdf_url":"https://www.nature.com/articles/s41380-026-03818-7.pdf","source":{"id":"https://openalex.org/S71149355","display_name":"Molecular Psychiatry","issn_l":"1359-4184","issn":["1359-4184","1476-5578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"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":"Molecular Psychiatry","raw_type":"journal-article"},{"id":"pmid:42603820","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42603820","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":"Molecular psychiatry","raw_type":"Journal Article"},{"id":"doi:10.5281/zenodo.21718012","doi":"https://doi.org/10.5281/zenodo.21718012","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.21718012","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1038/s41380-026-03818-7","doi":"https://doi.org/10.1038/s41380-026-03818-7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41380-026-03818-7","pdf_url":"https://www.nature.com/articles/s41380-026-03818-7.pdf","source":{"id":"https://openalex.org/S71149355","display_name":"Molecular Psychiatry","issn_l":"1359-4184","issn":["1359-4184","1476-5578"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"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":"Molecular Psychiatry","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Zero hunger","score":0.44571900367736816,"id":"https://metadata.un.org/sdg/2"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1769089477","display_name":null,"funder_award_id":"MBRU-CM-RG2022-04","funder_id":"https://openalex.org/F4320331161","funder_display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences"},{"id":"https://openalex.org/G2307498673","display_name":null,"funder_award_id":"MBRU-CM-RG2020-02","funder_id":"https://openalex.org/F4320331161","funder_display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences"},{"id":"https://openalex.org/G5210877665","display_name":null,"funder_award_id":"EXT-RG2022-02","funder_id":"https://openalex.org/F4320321154","funder_display_name":"Saudi Heart Association"},{"id":"https://openalex.org/G5900647017","display_name":null,"funder_award_id":"MBRU-CM-RG2020-12","funder_id":"https://openalex.org/F4320331161","funder_display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences"},{"id":"https://openalex.org/G7490102158","display_name":null,"funder_award_id":"EXT-RG2025-01","funder_id":"https://openalex.org/F4320321154","funder_display_name":"Saudi Heart Association"},{"id":"https://openalex.org/G7782862743","display_name":null,"funder_award_id":"AJF2023-103","funder_id":"https://openalex.org/F4320313184","funder_display_name":"Al Jalila Foundation"},{"id":"https://openalex.org/G866458282","display_name":null,"funder_award_id":"MBRU-CM-RG2022-12","funder_id":"https://openalex.org/F4320331161","funder_display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences"},{"id":"https://openalex.org/G8854043755","display_name":null,"funder_award_id":"MBRU-PD-2024-03","funder_id":"https://openalex.org/F4320313184","funder_display_name":"Al Jalila Foundation"}],"funders":[{"id":"https://openalex.org/F4320313184","display_name":"Al Jalila Foundation","ror":"https://ror.org/03zpd7f57"},{"id":"https://openalex.org/F4320321154","display_name":"Saudi Heart Association","ror":"https://ror.org/01nrq5w30"},{"id":"https://openalex.org/F4320322015","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087"},{"id":"https://openalex.org/F4320323654","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57"},{"id":"https://openalex.org/F4320331161","display_name":"Mohammed Bin Rashid University of Medicine and Health Sciences","ror":"https://ror.org/01xfzxq83"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7171978607.pdf","grobid_xml":"https://content.openalex.org/works/W7171978607.grobid-xml"},"referenced_works_count":91,"referenced_works":["https://openalex.org/W884245931","https://openalex.org/W1563648279","https://openalex.org/W1783978207","https://openalex.org/W1950769362","https://openalex.org/W1963673462","https://openalex.org/W1964512314","https://openalex.org/W1968495411","https://openalex.org/W1994576663","https://openalex.org/W1999137369","https://openalex.org/W2003317292","https://openalex.org/W2005101693","https://openalex.org/W2008249067","https://openalex.org/W2012041126","https://openalex.org/W2019268667","https://openalex.org/W2020174502","https://openalex.org/W2021957469","https://openalex.org/W2023265997","https://openalex.org/W2048635483","https://openalex.org/W2051978340","https://openalex.org/W2057619579","https://openalex.org/W2066680913","https://openalex.org/W2068907799","https://openalex.org/W2079251282","https://openalex.org/W2088704425","https://openalex.org/W2092171405","https://openalex.org/W2096024512","https://openalex.org/W2096131954","https://openalex.org/W2096424464","https://openalex.org/W2106650442","https://openalex.org/W2115548867","https://openalex.org/W2128284328","https://openalex.org/W2128953287","https://openalex.org/W2136153614","https://openalex.org/W2137319288","https://openalex.org/W2137393514","https://openalex.org/W2137395087","https://openalex.org/W2144967747","https://openalex.org/W2145165825","https://openalex.org/W2166336042","https://openalex.org/W2166555967","https://openalex.org/W2167064895","https://openalex.org/W2171686139","https://openalex.org/W2176043843","https://openalex.org/W2192230146","https://openalex.org/W2207583083","https://openalex.org/W2333105372","https://openalex.org/W2473990461","https://openalex.org/W2499863930","https://openalex.org/W2514190725","https://openalex.org/W2624035866","https://openalex.org/W2624647690","https://openalex.org/W2745991302","https://openalex.org/W2757581422","https://openalex.org/W2761722016","https://openalex.org/W2787650177","https://openalex.org/W2901671636","https://openalex.org/W2921633050","https://openalex.org/W2922584262","https://openalex.org/W2937445305","https://openalex.org/W2955503846","https://openalex.org/W2978273148","https://openalex.org/W2989663787","https://openalex.org/W2991106430","https://openalex.org/W3005680222","https://openalex.org/W3034700374","https://openalex.org/W3039441335","https://openalex.org/W3094874910","https://openalex.org/W3135803502","https://openalex.org/W3213326888","https://openalex.org/W4210290038","https://openalex.org/W4212779701","https://openalex.org/W4224982892","https://openalex.org/W4294968846","https://openalex.org/W4311674934","https://openalex.org/W4320858033","https://openalex.org/W4327550261","https://openalex.org/W4360816068","https://openalex.org/W4384942722","https://openalex.org/W4386084006","https://openalex.org/W4389555712","https://openalex.org/W4392169596","https://openalex.org/W4400561254","https://openalex.org/W4400809388","https://openalex.org/W4402630345","https://openalex.org/W4402869093","https://openalex.org/W4403853293","https://openalex.org/W4404202073","https://openalex.org/W4404639196","https://openalex.org/W4404651531","https://openalex.org/W4407851903","https://openalex.org/W7130509977"],"related_works":["https://openalex.org/W7169138470","https://openalex.org/W3033146918","https://openalex.org/W7116384482","https://openalex.org/W4385662194","https://openalex.org/W3083186483","https://openalex.org/W7165761450","https://openalex.org/W2775564610","https://openalex.org/W4403784975","https://openalex.org/W7131354560","https://openalex.org/W6945465308"],"abstract_inverted_index":{"Heterozygous":[0],"loss-of-function":[1],"variants":[2],"in":[3,218],"Neurabin":[4,229],"I":[5,230],"(":[6],"PPP1R9A)":[7],",":[8],"responsible":[9],"for":[10,17,128],"encoding":[11],"a":[12,101,209,223],"cytoskeletal":[13],"scaffolding":[14],"protein":[15],"essential":[16,127],"synaptic":[18,122,139,185],"plasticity,":[19],"are":[20],"recurrently":[21],"associated":[22],"with":[23,136,155],"neurodevelopmental":[24,145,233],"and":[25,71,96,107,112,121,132,144,184,215,234],"neuropsychiatric":[26],"disorders,":[27],"yet":[28],"their":[29],"direct":[30],"effects":[31],"on":[32],"human":[33,44,219],"neuronal":[34,105,153],"maturation":[35,217],"remain":[36],"unclear.":[37],"Here,":[38],"we":[39],"establish":[40,205],"the":[41,194],"first":[42],"comprehensive":[43],"mechanistic":[45,225],"model":[46],"of":[47,76,118,138,177,193,211],"PPP1R9A":[48,65,179,206],"haploinsufficiency":[49,207],"using":[50],"an":[51],"isogenic":[52],"CRISPR/Cas9-engineered":[53],"iPSC":[54],"system":[55],"differentiated":[56],"into":[57],"cortical":[58,167,220],"neurons":[59,67,157],"to":[60,232],"define":[61],"dosage-dependent":[62],"functional":[63],"consequences.":[64],"+/\u2212":[66],"exhibited":[68],"pronounced":[69],"hyperspinogenesis":[70],"increased":[72],"neuritic":[73],"complexity,":[74],"indicative":[75],"aberrant":[77],"structural":[78],"maturation;":[79],"however,":[80],"whole-cell":[81],"patch-clamp":[82],"recordings":[83],"revealed":[84],"impaired":[85,212],"intrinsic":[86],"excitability,":[87],"including":[88,125],"reduced":[89,228],"action":[90],"potential":[91],"firing,":[92],"altered":[93],"waveform":[94],"properties,":[95],"defective":[97],"axo-somatic":[98],"coupling,":[99],"uncovering":[100],"striking":[102],"dissociation":[103],"between":[104],"morphology":[106],"function.":[108],"Long-read":[109],"single-cell":[110],"transcriptomics":[111],"quantitative":[113],"proteomics":[114],"identified":[115],"coordinated":[116],"downregulation":[117],"ion":[119],"channel":[120,130],"transmission":[123],"pathways,":[124],"genes":[126],"sodium":[129],"function":[131],"glutamatergic":[133],"signaling,":[134],"together":[135],"disruption":[137],"vesicle":[140],"cycling,":[141],"axon":[142],"guidance,":[143],"programs.":[146],"Pseudotime":[147],"trajectory":[148],"analysis":[149],"further":[150],"demonstrated":[151],"delayed":[152],"differentiation,":[154],"mutant":[156,195],"accumulating":[158],"at":[159],"intermediate":[160],"developmental":[161,216],"states":[162],"rather":[163],"than":[164],"acquiring":[165],"mature":[166],"identities.":[168],"Importantly,":[169],"molecular":[170],"rescue":[171],"experiments":[172],"confirmed":[173],"causality,":[174],"as":[175,208],"restoration":[176],"full-length":[178],"expression":[180],"robustly":[181],"normalized":[182],"transcriptional":[183],"signaling":[186],"programs,":[187],"whereas":[188],"allele-specific":[189],"antisense":[190],"oligonucleotide\u2013mediated":[191],"suppression":[192],"transcript":[196],"achieved":[197],"only":[198],"partial":[199],"rescue.":[200],"Taken":[201],"together,":[202],"these":[203],"findings":[204],"driver":[210],"molecular,":[213],"electrophysiological,":[214],"neurons,":[221],"providing":[222],"human-specific":[224],"framework":[226],"linking":[227],"dosage":[231],"psychiatric":[235],"disease":[236],"risk.":[237]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2026-08-01T00:00:00"}