Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W4312129198', 'doi': 'https://doi.org/10.1038/s41431-022-01269-6', 'title': 'Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy', 'display_name': 'Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy', 'publication_year': 2022, 'publication_date': '2022-12-23', 'ids': {'openalex': 'https://openalex.org/W4312129198', 'doi': 'https://doi.org/10.1038/s41431-022-01269-6', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/36564538'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1038/s41431-022-01269-6', 'pdf_url': 'https://www.nature.com/articles/s41431-022-01269-6.pdf', 'source': {'id': 'https://openalex.org/S121703463', 'display_name': 'European Journal of Human Genetics', 'issn_l': '1018-4813', 'issn': ['1018-4813', '1476-5438'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'hybrid', 'oa_url': 'https://www.nature.com/articles/s41431-022-01269-6.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5026636642', 'display_name': 'Johannes Luppe', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I926574661', 'display_name': 'Leipzig University', 'ror': 'https://ror.org/03s7gtk40', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I926574661']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Johannes Luppe', 'raw_affiliation_strings': ['Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)'], 'affiliations': [{'raw_affiliation_string': 'Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)', 'institution_ids': ['https://openalex.org/I926574661']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065393453', 'display_name': 'Heinrich Sticht', 'orcid': 'https://orcid.org/0000-0001-5644-045X'}, 'institutions': [{'id': 'https://openalex.org/I181369854', 'display_name': 'Friedrich-Alexander-Universität Erlangen-Nürnberg', 'ror': 'https://ror.org/00f7hpc57', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I181369854']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Heinrich Sticht', 'raw_affiliation_strings': ['FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (Schlossplatz 4, 91054 Erlangen, Germany - Germany)'], 'affiliations': [{'raw_affiliation_string': 'FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (Schlossplatz 4, 91054 Erlangen, Germany - Germany)', 'institution_ids': ['https://openalex.org/I181369854']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5018968867', 'display_name': 'François Lecoquierre', 'orcid': 'https://orcid.org/0000-0002-9110-1856'}, 'institutions': [{'id': 'https://openalex.org/I4210105918', 'display_name': 'Normandie Université', 'ror': 'https://ror.org/01k40cz91', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210105918']}, {'id': 'https://openalex.org/I62396329', 'display_name': 'Université de Rouen Normandie', 'ror': 'https://ror.org/03nhjew95', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210105918', 'https://openalex.org/I62396329']}, {'id': 'https://openalex.org/I4210154623', 'display_name': 'Centre Hospitalier Universitaire de Rouen', 'ror': 'https://ror.org/04cdk4t75', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154623']}, {'id': 'https://openalex.org/I4210146089', 'display_name': 'Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers', 'ror': 'https://ror.org/03rwxa582', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I15057530', 'https://openalex.org/I4210126109', 'https://openalex.org/I4210146089']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'François Lecoquierre', 'raw_affiliation_strings': ['CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)', 'GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)', 'NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)'], 'affiliations': [{'raw_affiliation_string': 'NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)', 'institution_ids': ['https://openalex.org/I4210105918']}, {'raw_affiliation_string': 'CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)', 'institution_ids': ['https://openalex.org/I62396329', 'https://openalex.org/I4210154623']}, {'raw_affiliation_string': 'GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)', 'institution_ids': ['https://openalex.org/I4210146089']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5016342397', 'display_name': 'Alice Goldenberg', 'orcid': 'https://orcid.org/0000-0002-5864-9182'}, 'institutions': [{'id': 'https://openalex.org/I4210154623', 'display_name': 'Centre Hospitalier Universitaire de Rouen', 'ror': 'https://ror.org/04cdk4t75', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210154623']}, {'id': 'https://openalex.org/I4210146089', 'display_name': 'Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers', 'ror': 'https://ror.org/03rwxa582', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I15057530', 'https://openalex.org/I4210126109', 'https://openalex.org/I4210146089']}, {'id': 'https://openalex.org/I4210105918', 'display_name': 'Normandie Université', 'ror': 'https://ror.org/01k40cz91', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210105918']}, {'id': 'https://openalex.org/I62396329', 'display_name': 'Université de Rouen Normandie', 'ror': 'https://ror.org/03nhjew95', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210105918', 'https://openalex.org/I62396329']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Alice Goldenberg', 'raw_affiliation_strings': ['CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)', 'GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)', 'NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)'], 'affiliations': [{'raw_affiliation_string': 'CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)', 'institution_ids': ['https://openalex.org/I4210154623', 'https://openalex.org/I62396329']}, {'raw_affiliation_string': 'GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)', 'institution_ids': ['https://openalex.org/I4210146089']}, {'raw_affiliation_string': 'NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)', 'institution_ids': ['https://openalex.org/I4210105918']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5018627791', 'display_name': 'Kathleen M. Gorman', 'orcid': 'https://orcid.org/0000-0002-5488-1507'}, 'institutions': [], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Kathleen M. Gorman', 'raw_affiliation_strings': ['School of Medicine and Medical Science [Dublin, Irlande] (Stillorgan Rd, Belfield, Dublin 4 - Ireland)'], 'affiliations': [{'raw_affiliation_string': 'School of Medicine and Medical Science [Dublin, Irlande] (Stillorgan Rd, Belfield, Dublin 4 - Ireland)', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024902287', 'display_name': 'Ben Molloy', 'orcid': None}, 'institutions': [], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Ben Molloy', 'raw_affiliation_strings': ['Genuity Science, Dublin, Ireland'], 'affiliations': [{'raw_affiliation_string': 'Genuity Science, Dublin, Ireland', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005731148', 'display_name': 'Emanuele Agolini', 'orcid': 'https://orcid.org/0000-0001-6543-6225'}, 'institutions': [{'id': 'https://openalex.org/I4210123352', 'display_name': "Bambino Gesù Children's Hospital", 'ror': 'https://ror.org/02sy42d13', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210123352', 'https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Emanuele Agolini', 'raw_affiliation_strings': ['IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital (00165 Rome - Italy)'], 'affiliations': [{'raw_affiliation_string': 'IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital (00165 Rome - Italy)', 'institution_ids': ['https://openalex.org/I4210123352']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5013365941', 'display_name': 'Antonio Novelli', 'orcid': 'https://orcid.org/0000-0002-9037-4297'}, 'institutions': [{'id': 'https://openalex.org/I4210123352', 'display_name': "Bambino Gesù Children's Hospital", 'ror': 'https://ror.org/02sy42d13', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210123352', 'https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Antonio Novelli', 'raw_affiliation_strings': ['IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital (00165 Rome - Italy)'], 'affiliations': [{'raw_affiliation_string': 'IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital (00165 Rome - Italy)', 'institution_ids': ['https://openalex.org/I4210123352']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059524154', 'display_name': 'Silvana Briuglia', 'orcid': 'https://orcid.org/0000-0002-5213-441X'}, 'institutions': [{'id': 'https://openalex.org/I112862951', 'display_name': 'University of Messina', 'ror': 'https://ror.org/05ctdxz19', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I112862951']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Silvana Briuglia', 'raw_affiliation_strings': ['UniMe - Università degli Studi di Messina = University of Messina (Piazza Pugliatti, 1 - 98122 Messina - Italy)'], 'affiliations': [{'raw_affiliation_string': 'UniMe - Università degli Studi di Messina = University of Messina (Piazza Pugliatti, 1 - 98122 Messina - Italy)', 'institution_ids': ['https://openalex.org/I112862951']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5010890846', 'display_name': 'Outi Kuismin', 'orcid': 'https://orcid.org/0000-0002-0157-8985'}, 'institutions': [{'id': 'https://openalex.org/I4210133586', 'display_name': 'Institute for Molecular Medicine Finland', 'ror': 'https://ror.org/030sbze61', 'country_code': 'FI', 'type': 'facility', 'lineage': ['https://openalex.org/I133731052', 'https://openalex.org/I4210133586']}], 'countries': ['FI'], 'is_corresponding': False, 'raw_author_name': 'Outi Kuismin', 'raw_affiliation_strings': ['FIMM - Institute for Molecular Medicine Finland [Helsinki] (P.O. Box 20\r\nFI-00014. Helsinki, Finlande - Finland)'], 'affiliations': [{'raw_affiliation_string': 'FIMM - Institute for Molecular Medicine Finland [Helsinki] (P.O. Box 20\r\nFI-00014. Helsinki, Finlande - Finland)', 'institution_ids': ['https://openalex.org/I4210133586']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5035260537', 'display_name': 'Carlo Marcelis', 'orcid': 'https://orcid.org/0000-0001-7095-4641'}, 'institutions': [{'id': 'https://openalex.org/I145872427', 'display_name': 'Radboud University Nijmegen', 'ror': 'https://ror.org/016xsfp80', 'country_code': 'NL', 'type': 'education', 'lineage': ['https://openalex.org/I145872427']}, {'id': 'https://openalex.org/I2802934949', 'display_name': 'Radboud University Medical Center', 'ror': 'https://ror.org/05wg1m734', 'country_code': 'NL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802934949']}], 'countries': ['NL'], 'is_corresponding': False, 'raw_author_name': 'Carlo Marcelis', 'raw_affiliation_strings': ['Radboud University Medical Center [Nijmegen] (6500 HB Nijmegen - Netherlands)'], 'affiliations': [{'raw_affiliation_string': 'Radboud University Medical Center [Nijmegen] (6500 HB Nijmegen - Netherlands)', 'institution_ids': ['https://openalex.org/I145872427', 'https://openalex.org/I2802934949']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059739660', 'display_name': 'Antonio Vitobello', 'orcid': 'https://orcid.org/0000-0003-3717-8374'}, 'institutions': [{'id': 'https://openalex.org/I4210139033', 'display_name': 'Centre de recherche Translationnelle en Médecine moléculaire', 'ror': 'https://ror.org/04d70nb60', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I177064439', 'https://openalex.org/I4210117091', 'https://openalex.org/I4210135996', 'https://openalex.org/I4210139033', 'https://openalex.org/I4399657933']}, {'id': 'https://openalex.org/I177064439', 'display_name': 'Université de Bourgogne', 'ror': 'https://ror.org/03k1bsr36', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I177064439']}, {'id': 'https://openalex.org/I4210118524', 'display_name': 'Université Bourgogne Franche-Comté', 'ror': 'https://ror.org/02dn7x778', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210118524']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Antonio Vitobello', 'raw_affiliation_strings': ["LNC - Lipides - Nutrition - Cancer [Dijon - U1231] (Université de Bourgogne - Faculte de medecine - 7, boulevard Jeanne d'Arc - BP 87900 - 21079 Dijon Cedex - France)", 'UBFC - Université Bourgogne Franche-Comté [COMUE] (32, avenue de l’observatoire\r\n25000 BESANCON - France)'], 'affiliations': [{'raw_affiliation_string': "LNC - Lipides - Nutrition - Cancer [Dijon - U1231] (Université de Bourgogne - Faculte de medecine - 7, boulevard Jeanne d'Arc - BP 87900 - 21079 Dijon Cedex - France)", 'institution_ids': ['https://openalex.org/I4210139033', 'https://openalex.org/I177064439']}, {'raw_affiliation_string': 'UBFC - Université Bourgogne Franche-Comté [COMUE] (32, avenue de l’observatoire\r\n25000 BESANCON - France)', 'institution_ids': ['https://openalex.org/I4210118524']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5077874217', 'display_name': 'Anne‐Sophie Denommé‐Pichon', 'orcid': 'https://orcid.org/0000-0002-8986-8222'}, 'institutions': [{'id': 'https://openalex.org/I4210118524', 'display_name': 'Université Bourgogne Franche-Comté', 'ror': 'https://ror.org/02dn7x778', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I4210118524']}, {'id': 'https://openalex.org/I4210139033', 'display_name': 'Centre de recherche Translationnelle en Médecine moléculaire', 'ror': 'https://ror.org/04d70nb60', 'country_code': 'FR', 'type': 'facility', 'lineage': ['https://openalex.org/I154526488', 'https://openalex.org/I177064439', 'https://openalex.org/I4210117091', 'https://openalex.org/I4210135996', 'https://openalex.org/I4210139033', 'https://openalex.org/I4399657933']}, {'id': 'https://openalex.org/I177064439', 'display_name': 'Université de Bourgogne', 'ror': 'https://ror.org/03k1bsr36', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I177064439']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Anne-Sophie Denommé-Pichon', 'raw_affiliation_strings': ["LNC - Lipides - Nutrition - Cancer [Dijon - U1231] (Université de Bourgogne - Faculte de medecine - 7, boulevard Jeanne d'Arc - BP 87900 - 21079 Dijon Cedex - France)", 'UBFC - Université Bourgogne Franche-Comté [COMUE] (32, avenue de l’observatoire\r\n25000 BESANCON - France)'], 'affiliations': [{'raw_affiliation_string': 'UBFC - Université Bourgogne Franche-Comté [COMUE] (32, avenue de l’observatoire\r\n25000 BESANCON - France)', 'institution_ids': ['https://openalex.org/I4210118524']}, {'raw_affiliation_string': "LNC - Lipides - Nutrition - Cancer [Dijon - U1231] (Université de Bourgogne - Faculte de medecine - 7, boulevard Jeanne d'Arc - BP 87900 - 21079 Dijon Cedex - France)", 'institution_ids': ['https://openalex.org/I4210139033', 'https://openalex.org/I177064439']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015770832', 'display_name': 'Sophie Julia', 'orcid': 'https://orcid.org/0000-0003-1272-528X'}, 'institutions': [{'id': 'https://openalex.org/I3019448017', 'display_name': 'Centre Hospitalier Universitaire de Toulouse', 'ror': 'https://ror.org/017h5q109', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019448017']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Sophie Julia', 'raw_affiliation_strings': ['CHU Toulouse - Centre Hospitalier Universitaire de Toulouse (regroupe les hôpitaux Purpan, Rangueil, Pierre-Paul Riquet, Larey, Paule de Viguier, Hôtel Dieu Saint-Jacques, La Grave, etc. - France)', 'Equipe BIOETHICS (CERPOP) (37 allées J. Guesde 31000 Toulouse - France)'], 'affiliations': [{'raw_affiliation_string': 'CHU Toulouse - Centre Hospitalier Universitaire de Toulouse (regroupe les hôpitaux Purpan, Rangueil, Pierre-Paul Riquet, Larey, Paule de Viguier, Hôtel Dieu Saint-Jacques, La Grave, etc. - France)', 'institution_ids': ['https://openalex.org/I3019448017']}, {'raw_affiliation_string': 'Equipe BIOETHICS (CERPOP) (37 allées J. Guesde 31000 Toulouse - France)', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5055323325', 'display_name': 'Johannes R. Lemke', 'orcid': 'https://orcid.org/0000-0002-4435-6610'}, 'institutions': [{'id': 'https://openalex.org/I926574661', 'display_name': 'Leipzig University', 'ror': 'https://ror.org/03s7gtk40', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I926574661']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Johannes R. Lemke', 'raw_affiliation_strings': ['Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)'], 'affiliations': [{'raw_affiliation_string': 'Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)', 'institution_ids': ['https://openalex.org/I926574661']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5076675664', 'display_name': 'Rami Abou Jamra', 'orcid': 'https://orcid.org/0000-0002-1542-1399'}, 'institutions': [{'id': 'https://openalex.org/I926574661', 'display_name': 'Leipzig University', 'ror': 'https://ror.org/03s7gtk40', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I926574661']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Rami Abou Jamra', 'raw_affiliation_strings': ['Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)'], 'affiliations': [{'raw_affiliation_string': 'Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)', 'institution_ids': ['https://openalex.org/I926574661']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5006180942', 'display_name': 'Konrad Platzer', 'orcid': 'https://orcid.org/0000-0001-6127-6308'}, 'institutions': [{'id': 'https://openalex.org/I926574661', 'display_name': 'Leipzig University', 'ror': 'https://ror.org/03s7gtk40', 'country_code': 'DE', 'type': 'education', 'lineage': ['https://openalex.org/I926574661']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Konrad Platzer', 'raw_affiliation_strings': ['Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)'], 'affiliations': [{'raw_affiliation_string': 'Leipzig University / Universität Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)', 'institution_ids': ['https://openalex.org/I926574661']}]}], 'institution_assertions': [], 'countries_distinct_count': 6, 'institutions_distinct_count': 15, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2990, 'currency': 'EUR', 'value_usd': 3690, 'provenance': 'doaj'}, 'apc_paid': {'value': 2990, 'currency': 'EUR', 'value_usd': 3690, 'provenance': 'doaj'}, 'fwci': 2.056, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 9, 'citation_normalized_percentile': {'value': 0.722014, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 90, 'max': 91}, 'biblio': {'volume': '31', 'issue': '3', 'first_page': '345', 'last_page': '352'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9994, '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': 0.9994, '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/T12610', 'display_name': 'RNA regulation and disease', 'score': 0.9981, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, '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/T11480', 'display_name': 'Connexins and lens biology', 'score': 0.9937, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/neurodevelopmental-disorder', 'display_name': 'Neurodevelopmental disorder', 'score': 0.52014905}, {'id': 'https://openalex.org/keywords/heterozygote-advantage', 'display_name': 'Heterozygote advantage', 'score': 0.44561177}, {'id': 'https://openalex.org/keywords/seizure-disorders', 'display_name': 'Seizure Disorders', 'score': 0.4313507}, {'id': 'https://openalex.org/keywords/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.41029656}], 'concepts': [{'id': 'https://openalex.org/C2778186239', 'wikidata': 'https://www.wikidata.org/wiki/Q41571', 'display_name': 'Epilepsy', 'level': 2, 'score': 0.7822467}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.52084666}, {'id': 'https://openalex.org/C2779388368', 'wikidata': 'https://www.wikidata.org/wiki/Q3450985', 'display_name': 'Neurodevelopmental disorder', 'level': 3, 'score': 0.52014905}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.4980111}, {'id': 'https://openalex.org/C153471976', 'wikidata': 'https://www.wikidata.org/wiki/Q2873354', 'display_name': 'Heterozygote advantage', 'level': 4, 'score': 0.44561177}, {'id': 'https://openalex.org/C2909985455', 'wikidata': 'https://www.wikidata.org/wiki/Q41571', 'display_name': 'Seizure Disorders', 'level': 3, 'score': 0.4313507}, {'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.41029656}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.3237387}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.30583724}, {'id': 'https://openalex.org/C118552586', 'wikidata': 'https://www.wikidata.org/wiki/Q7867', 'display_name': 'Psychiatry', 'level': 1, 'score': 0.27085674}, {'id': 'https://openalex.org/C180754005', 'wikidata': 'https://www.wikidata.org/wiki/Q80726', 'display_name': 'Allele', 'level': 3, 'score': 0.22031182}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.12712914}], 'mesh': [{'descriptor_ui': 'D001321', 'descriptor_name': 'Autistic Disorder', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D004827', 'descriptor_name': 'Epilepsy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D065886', 'descriptor_name': 'Neurodevelopmental Disorders', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D001321', 'descriptor_name': 'Autistic Disorder', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004827', 'descriptor_name': 'Epilepsy', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006579', 'descriptor_name': 'Heterozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008607', 'descriptor_name': 'Intellectual Disability', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D065886', 'descriptor_name': 'Neurodevelopmental Disorders', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D050827', 'descriptor_name': 'Syntaxin 1', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D050827', 'descriptor_name': 'Syntaxin 1', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 8, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1038/s41431-022-01269-6', 'pdf_url': 'https://www.nature.com/articles/s41431-022-01269-6.pdf', 'source': {'id': 'https://openalex.org/S121703463', 'display_name': 'European Journal of Human Genetics', 'issn_l': '1018-4813', 'issn': ['1018-4813', '1476-5438'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://hal.science/hal-04127225', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://hal.science/hal-04127225/file/Luppe_2022.pdf', 'pdf_url': 'https://hal.science/hal-04127225/file/Luppe_2022.pdf', 'source': {'id': 'https://openalex.org/S4306402512', 'display_name': 'HAL (Le Centre pour la Communication Scientifique Directe)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1294671590', 'host_organization_name': 'Centre National de la Recherche Scientifique', 'host_organization_lineage': ['https://openalex.org/I1294671590'], 'host_organization_lineage_names': ['Centre National de la Recherche Scientifique'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://repository.ubn.ru.nl//bitstream/handle/2066/290883/290883.pdf', 'pdf_url': 'https://repository.ubn.ru.nl//bitstream/handle/2066/290883/290883.pdf', 'source': {'id': 'https://openalex.org/S4306401067', 'display_name': 'Radboud Repository (Radboud University)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I145872427', 'host_organization_name': 'Radboud University Nijmegen', 'host_organization_lineage': ['https://openalex.org/I145872427'], 'host_organization_lineage_names': ['Radboud University Nijmegen'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://repository.ubn.ru.nl/handle/2066/290883', 'pdf_url': 'https://repository.ubn.ru.nl/bitstream/handle/2066/290883/1/290883.pdf', 'source': {'id': 'https://openalex.org/S4306401067', 'display_name': 'Radboud Repository (Radboud University)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I145872427', 'host_organization_name': 'Radboud University Nijmegen', 'host_organization_lineage': ['https://openalex.org/I145872427'], 'host_organization_lineage_names': ['Radboud University Nijmegen'], 'type': 'repository'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995539', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2022.04.20.22274073', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306400573', 'display_name': 'medRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/36564538', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1038/s41431-022-01269-6', 'pdf_url': 'https://www.nature.com/articles/s41431-022-01269-6.pdf', 'source': {'id': 'https://openalex.org/S121703463', 'display_name': 'European Journal of Human Genetics', 'issn_l': '1018-4813', 'issn': ['1018-4813', '1476-5438'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/4', 'display_name': 'Quality education', 'score': 0.41}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 46, 'referenced_works': ['https://openalex.org/W1808711893', 'https://openalex.org/W1861934591', 'https://openalex.org/W1918763723', 'https://openalex.org/W1965521081', 'https://openalex.org/W1994592120', 'https://openalex.org/W2004316399', 'https://openalex.org/W2015642465', 'https://openalex.org/W2019097293', 'https://openalex.org/W2024136850', 'https://openalex.org/W2026258231', 'https://openalex.org/W2042069759', 'https://openalex.org/W2051978340', 'https://openalex.org/W2054927476', 'https://openalex.org/W2057705064', 'https://openalex.org/W2082252558', 'https://openalex.org/W2085010110', 'https://openalex.org/W2089005925', 'https://openalex.org/W2099650970', 'https://openalex.org/W2117068408', 'https://openalex.org/W2127693800', 'https://openalex.org/W2144373424', 'https://openalex.org/W2146083400', 'https://openalex.org/W2153569460', 'https://openalex.org/W2427796365', 'https://openalex.org/W2521967673', 'https://openalex.org/W2578320976', 'https://openalex.org/W2591119594', 'https://openalex.org/W2607471866', 'https://openalex.org/W2799812275', 'https://openalex.org/W2890791416', 'https://openalex.org/W2904448294', 'https://openalex.org/W2937947908', 'https://openalex.org/W2939763438', 'https://openalex.org/W2949860192', 'https://openalex.org/W2995314435', 'https://openalex.org/W3016426665', 'https://openalex.org/W3029661147', 'https://openalex.org/W3035920737', 'https://openalex.org/W3093292403', 'https://openalex.org/W3129351841', 'https://openalex.org/W3134112112', 'https://openalex.org/W3181349097', 'https://openalex.org/W4200619411', 'https://openalex.org/W4205181138', 'https://openalex.org/W4210524008', 'https://openalex.org/W4242966160'], 'related_works': ['https://openalex.org/W4388090985', 'https://openalex.org/W2802335767', 'https://openalex.org/W2773633178', 'https://openalex.org/W2551236593', 'https://openalex.org/W2395385109', 'https://openalex.org/W2356350882', 'https://openalex.org/W2080101436', 'https://openalex.org/W2047819786', 'https://openalex.org/W2043907510', 'https://openalex.org/W1545074592'], 'abstract_inverted_index': {'The': [0], 'neuronal': [1], 'SNARE': [2, 157], 'complex': [3, 158], 'drives': [4], 'synaptic': [5], 'vesicle': [6], 'exocytosis.': [7], 'Therefore,': [8], 'one': [9], 'of': [10, 43, 65, 106, 125, 174, 187], 'its': [11], 'core': [12], 'proteins': [13], 'syntaxin': [14], '1A': [15], '(STX1A)': [16], 'has': [17], 'long': [18], 'been': [19], 'suspected': [20], 'to': [21, 86, 128, 143, 161], 'play': [22], 'a': [23, 41, 52, 66, 72, 137, 155, 175], 'role': [24], 'in': [25, 36, 78, 84, 92, 147], 'neurodevelopmental': [26, 177], 'disorders.': [27], 'We': [28, 70, 119], 'assembled': [29], 'eight': [30], 'individuals': [31, 80, 93, 127], 'harboring': [32], 'ultra': [33], 'rare': [34, 188], 'variants': [35, 50, 60, 83, 108, 145], 'STX1A': [37], 'who': [38], 'present': [39], 'with': [40, 81, 94, 179], 'spectrum': [42], 'intellectual': [44, 87, 167], 'disability,': [45], 'autism': [46, 170], 'and': [47, 61, 89, 99, 109, 153, 169], 'epilepsy.': [48], 'Causative': [49], 'comprise': [51], 'homozygous': [53], 'splice': [54], 'variant,': [55], 'three': [56], 'de': [57], 'novo': [58], 'missense': [59, 82, 107, 144], 'two': [62, 122, 132], 'inframe': [63, 162], 'deletions': [64, 98, 113, 163], 'single': [67, 95, 110], 'amino': [68, 96, 111], 'acid.': [69], 'observed': [71], 'phenotype': [73], 'mainly': [74], 'driven': [75], 'by': [76], 'epilepsy': [77, 182], 'the': [79, 100, 121, 185], 'contrast': [85], 'disability': [88, 168], 'autistic': [90], 'behavior': [91], 'acid': [97, 112], 'splicing': [101], 'variant.': [102], 'In': [103], 'silico': [104], 'modeling': [105], 'show': [114], 'different': [115, 133], 'impaired': [116], 'protein-protein': [117], 'interactions.': [118], 'hypothesize': [120], 'phenotypic': [123], 'courses': [124], 'affected': [126], 'be': [129], 'dependent': [130], 'on': [131], 'pathogenic': [134], 'mechanisms:': [135], '(1)': [136], 'weakened': [138], 'inhibitory': [139], 'STX1A-STXBP1': [140], 'interaction': [141], 'due': [142, 160], 'results': [146], 'an': [148, 165], 'STX1A-related': [149, 166, 176], 'developmental': [150], 'epileptic': [151], 'encephalopathy': [152], '(2)': [154], 'hampered': [156], 'formation': [159], 'causes': [164], 'phenotype.': [171], 'Our': [172], 'description': [173], 'disorder': [178], 'or': [180], 'without': [181], 'thus': [183], 'expands': [184], 'group': [186], 'diseases': [189], 'called': [190], 'SNAREopathies.': [191]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4312129198', 'counts_by_year': [{'year': 2024, 'cited_by_count': 6}, {'year': 2023, 'cited_by_count': 3}], 'updated_date': '2024-12-14T19:58:03.629889', 'created_date': '2023-01-04'}