{"id":"https://openalex.org/W4417469571","doi":"https://doi.org/10.1136/archdischild-2025-329771","title":"Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study","display_name":"Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study","publication_year":2025,"publication_date":"2025-12-18","ids":{"openalex":"https://openalex.org/W4417469571","doi":"https://doi.org/10.1136/archdischild-2025-329771","pmid":"https://pubmed.ncbi.nlm.nih.gov/41412751"},"language":"en","primary_location":{"id":"doi:10.1136/archdischild-2025-329771","doi":"https://doi.org/10.1136/archdischild-2025-329771","is_oa":false,"landing_page_url":"https://doi.org/10.1136/archdischild-2025-329771","pdf_url":null,"source":{"id":"https://openalex.org/S35570472","display_name":"Archives of Disease in Childhood Fetal & Neonatal","issn_l":"1359-2998","issn":["1359-2998","1468-2052"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood - Fetal and Neonatal Edition","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054544378","display_name":"Jonathan Olival","orcid":"https://orcid.org/0000-0001-8824-2896","observed_orcids":["https://orcid.org/0000-0001-8824-2896"]},"institutions":[{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jonathan Olival","raw_affiliation_strings":["Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0001-8824-2896","affiliations":[{"raw_affiliation_string":"Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388446393","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020511593","display_name":"Janet Hoenicka","orcid":"https://orcid.org/0000-0002-6790-6988","observed_orcids":["https://orcid.org/0000-0002-6790-6988"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Janet Hoenicka","raw_affiliation_strings":["Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388446393","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047682381","display_name":"Gemma Arca","orcid":"https://orcid.org/0000-0003-3647-0656","observed_orcids":["https://orcid.org/0000-0003-3647-0656"]},"institutions":[{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Gemma Arca","raw_affiliation_strings":["Department of Neonatology, Hospital Cl\u00ednic (Maternitat)-IDIBAPS, Barcelona, Spain","Neonatal Neurology. NeNe Foundation, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neonatology, Hospital Cl\u00ednic (Maternitat)-IDIBAPS, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097","https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071467958","display_name":"Juan Arn\u00e1ez","orcid":"https://orcid.org/0000-0001-8883-5181","observed_orcids":["https://orcid.org/0000-0001-8883-5181"]},"institutions":[{"id":"https://openalex.org/I4210115949","display_name":"Hospital Universitario de Burgos","ror":"https://ror.org/01j5v0d02","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115949"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Juan Arnaez","raw_affiliation_strings":["Neonatal Neurology. NeNe Foundation, Madrid, Spain","Neonatal Unit, Hospital Universitario de Burgos, Burgos, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]},{"raw_affiliation_string":"Neonatal Unit, Hospital Universitario de Burgos, Burgos, Spain","institution_ids":["https://openalex.org/I4210115949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076620273","display_name":"Tha\u00efs Agut","orcid":"https://orcid.org/0000-0002-5673-0016","observed_orcids":["https://orcid.org/0000-0002-5673-0016"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Thais Agut","raw_affiliation_strings":["Neonatal Department, Hospital Sant Joan de D\u00e9u, Barcelona, Spain","Neonatal Neurology. NeNe Foundation, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Department, Hospital Sant Joan de D\u00e9u, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]},{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075813509","display_name":"Joan Maynou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Joan Maynou","raw_affiliation_strings":["Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388446393","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024923704","display_name":"Christian Stephan\u2010Otto","orcid":"https://orcid.org/0000-0002-6326-7648","observed_orcids":["https://orcid.org/0000-0002-6326-7648"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I4210128981","display_name":"Parc Sanitari Sant Joan de D\u00e9u","ror":"https://ror.org/02f3ts956","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210128981"]},{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Christian Stephan-Otto","raw_affiliation_strings":["Neonatal Brain Research Group, Institut de Recerca Sant Joan de D\u00e9u, Hospital Sant Joan de D\u00e9u, Barcelona, Spain","Parc Sanitari Sant Joan de D\u00e9u, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Brain Research Group, Institut de Recerca Sant Joan de D\u00e9u, Hospital Sant Joan de D\u00e9u, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311","https://openalex.org/I4388446393"]},{"raw_affiliation_string":"Parc Sanitari Sant Joan de D\u00e9u, Barcelona, Spain","institution_ids":["https://openalex.org/I4210128981"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017443238","display_name":"Christian N\u00fa\u00f1ez","orcid":"https://orcid.org/0000-0003-4104-6235","observed_orcids":["https://orcid.org/0000-0003-4104-6235"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I2801795740","display_name":"Hospital de Sant Pau","ror":"https://ror.org/059n1d175","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2801795740"]},{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Christian N\u00fa\u00f1ez","raw_affiliation_strings":["Departament de Psiquiatria, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica-Sant Pau (IIB-Sant Pau), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain","Neonatal Brain Research Group, Institut de Recerca Sant Joan de D\u00e9u, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departament de Psiquiatria, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica-Sant Pau (IIB-Sant Pau), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain","institution_ids":["https://openalex.org/I2801795740"]},{"raw_affiliation_string":"Neonatal Brain Research Group, Institut de Recerca Sant Joan de D\u00e9u, Hospital Sant Joan de D\u00e9u, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311","https://openalex.org/I4388446393"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061252047","display_name":"Isabel Benavente\u2010Fern\u00e1ndez","orcid":"https://orcid.org/0000-0001-9276-1912","observed_orcids":["https://orcid.org/0000-0001-9276-1912"]},"institutions":[{"id":"https://openalex.org/I4210144722","display_name":"Hospital Universitario Puerta del Mar","ror":"https://ror.org/040xzg562","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I158283456","https://openalex.org/I4210144722"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Isabel Benavente","raw_affiliation_strings":["Departamento de Neonatolog\u00eda, Hospital Puerta del Mar, C\u00e1diz, Spain","Neonatal Neurology. NeNe Foundation, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Neonatolog\u00eda, Hospital Puerta del Mar, C\u00e1diz, Spain","institution_ids":["https://openalex.org/I4210144722"]},{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009387622","display_name":"Sim\u00f3n Pedro Lubi\u00e1n\u2010L\u00f3pez","orcid":"https://orcid.org/0000-0002-2937-778X","observed_orcids":["https://orcid.org/0000-0002-2937-778X"]},"institutions":[{"id":"https://openalex.org/I4210144722","display_name":"Hospital Universitario Puerta del Mar","ror":"https://ror.org/040xzg562","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I158283456","https://openalex.org/I4210144722"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sim\u00f3n Lubi\u00e1n-L\u00f3pez","raw_affiliation_strings":["Departamento de Neonatolog\u00eda, Hospital Puerta del Mar, C\u00e1diz, Spain","Neonatal Neurology. NeNe Foundation, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Neonatolog\u00eda, Hospital Puerta del Mar, C\u00e1diz, Spain","institution_ids":["https://openalex.org/I4210144722"]},{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089487905","display_name":"Francesc Palau","orcid":"https://orcid.org/0000-0002-8635-5421","observed_orcids":["https://orcid.org/0000-0002-8635-5421"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4388446393","display_name":"Institut de Recerca Sant Joan de D\u00e9u","ror":"https://ror.org/00gy2ar74","country_code":null,"type":"facility","lineage":["https://openalex.org/I4387153040","https://openalex.org/I4388446393"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Francesc Palau","raw_affiliation_strings":["Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain"],"raw_orcid":"https://orcid.org/0000-0002-8635-5421","affiliations":[{"raw_affiliation_string":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Laboratory of Neurogenetics and Genomic Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de D\u00e9u and Hospital Sant Joan de D\u00e9u, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388446393","https://openalex.org/I71999127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5029886202","display_name":"Alfredo Garc\u0131\u0301a-Alix","orcid":"https://orcid.org/0000-0002-7972-8453","observed_orcids":["https://orcid.org/0000-0002-7972-8453"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alfredo Garc\u00eda-Alix","raw_affiliation_strings":["Iberoamerican Society of Neonatology (SIBEN), New Jersey, Northeastern United States, USA","Neonatal Neurology. NeNe Foundation, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Iberoamerican Society of Neonatology (SIBEN), New Jersey, Northeastern United States, USA","institution_ids":[]},{"raw_affiliation_string":"Neonatal Neurology. NeNe Foundation, Madrid, Spain","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5089487905"],"corresponding_institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366","https://openalex.org/I4388446393","https://openalex.org/I71999127"],"apc_list":null,"apc_paid":null,"fwci":1.1037,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.79776733,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"111","issue":"5","first_page":"F433","last_page":"F440"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5723000168800354,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.5723000168800354,"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/T11184","display_name":"Neonatal and fetal brain pathology","score":0.27000001072883606,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13648","display_name":"Cerebrovascular and genetic disorders","score":0.05730000138282776,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/monogenic-stroke","display_name":"monogenic stroke","score":0.6269999742507935},{"id":"https://openalex.org/keywords/pik3cd","display_name":"PIK3CD","score":0.8949999809265137},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7540000081062317},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7680000066757202},{"id":"https://openalex.org/keywords/newborns","display_name":"neonates","score":0.5379999876022339},{"id":"https://openalex.org/keywords/genetic-architecture","display_name":"genetic architecture","score":0.4560000002384186}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6413000226020813},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.4408999979496002},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.396699994802475},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.37549999356269836},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3693000078201294},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.36739999055862427},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3603000044822693},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3580000102519989},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3312000036239624},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3285999894142151},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.30329999327659607},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.29580000042915344},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.27549999952316284},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.27309998869895935},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2705000042915344},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.2531000077724457},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.2524999976158142}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000083242","descriptor_name":"Ischemic Stroke","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000083242","descriptor_name":"Ischemic Stroke","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1136/archdischild-2025-329771","doi":"https://doi.org/10.1136/archdischild-2025-329771","is_oa":false,"landing_page_url":"https://doi.org/10.1136/archdischild-2025-329771","pdf_url":null,"source":{"id":"https://openalex.org/S35570472","display_name":"Archives of Disease in Childhood Fetal & Neonatal","issn_l":"1359-2998","issn":["1359-2998","1468-2052"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-2","medline","norway-2"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood - Fetal and Neonatal Edition","raw_type":"journal-article"},{"id":"pmid:41412751","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41412751","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":"Archives of disease in childhood. Fetal and neonatal edition","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G7709568045","display_name":null,"funder_award_id":"201714.10","funder_id":"https://openalex.org/F4320310701","funder_display_name":"Fundaci\u00f3 la Marat\u00f3 de TV3"}],"funders":[{"id":"https://openalex.org/F4320310214","display_name":"Fundaci\u00f3n Ram\u00f3n Areces","ror":"https://ror.org/04ra91131"},{"id":"https://openalex.org/F4320310701","display_name":"Fundaci\u00f3 la Marat\u00f3 de TV3","ror":"https://ror.org/00t5xc355"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W1976584510","https://openalex.org/W1980731423","https://openalex.org/W1995301558","https://openalex.org/W2001188663","https://openalex.org/W2024663595","https://openalex.org/W2035278369","https://openalex.org/W2046112840","https://openalex.org/W2052218777","https://openalex.org/W2055022191","https://openalex.org/W2059904798","https://openalex.org/W2075586688","https://openalex.org/W2079162743","https://openalex.org/W2087721703","https://openalex.org/W2133007686","https://openalex.org/W2138033133","https://openalex.org/W2148766286","https://openalex.org/W2157029708","https://openalex.org/W2158575124","https://openalex.org/W2281890638","https://openalex.org/W2295619510","https://openalex.org/W2335889392","https://openalex.org/W2520802380","https://openalex.org/W2563441485","https://openalex.org/W2606247181","https://openalex.org/W2767560354","https://openalex.org/W2808621709","https://openalex.org/W2884994027","https://openalex.org/W2899096266","https://openalex.org/W2940462292","https://openalex.org/W2952352685","https://openalex.org/W2953369183","https://openalex.org/W3113054823","https://openalex.org/W3202283578","https://openalex.org/W4323295350","https://openalex.org/W4382199891","https://openalex.org/W4403385651","https://openalex.org/W4407370813"],"related_works":[],"abstract_inverted_index":{"Objective":[0],"To":[1],"assess":[2,147],"the":[3,94,108,170,175,192,213],"contribution":[4],"of":[5,64,174,195,216],"rare":[6,81],"coding":[7],"genetic":[8,19,172,214],"variants":[9,50,71,84,164,199],"to":[10,146,168,182],"idiopathic":[11,34,161],"neonatal":[12],"arterial":[13],"ischaemic":[14],"stroke":[15],"(NAIS).":[16],"Design":[17],"Observational":[18],"study":[20],"using":[21],"trio-based":[22],"whole-exome":[23],"sequencing":[24,206],"(WES).":[25],"Setting":[26],"Multicentre":[27],"study.":[28],"Patients":[29],"23":[30,89,109],"newborns":[31,90,110],"diagnosed":[32],"with":[33,42,74,91,129,138],"NAIS":[35,201],"and":[36,48,56,115,141],"their":[37],"biological":[38],"parents.":[39],"Interventions":[40],"WES-trio":[41],"a":[43,123,157],"customised":[44],"workflow":[45],"for":[46,160],"filtering":[47],"interpreting":[49],"in":[51,85,126,200],"de":[52,82],"novo":[53,83],"autosomal":[54,95],"dominant":[55],"recessive":[57,96],"inheritance":[58],"models.":[59],"Main":[60],"outcome":[61],"measures":[62],"Identification":[63],"pathogenic":[65,69],"(P)":[66],"or":[67,197],"likely":[68],"(LP)":[70],"potentially":[72],"associated":[73],"NAIS.":[75,92,162],"Results":[76],"We":[77],"identified":[78,137],"28":[79,86],"unique":[80],"genes":[87,100],"across":[88,107],"Under":[93],"model,":[97],"no":[98,133],"candidate":[99,124],"were":[101,136],"identified.":[102],"No":[103],"common":[104],"P/LP":[105],"variant":[106],"was":[111],"detected.":[112],"In-silico":[113],"predictors":[114],"comprehensive":[116],"knowledge-driven":[117],"analysis":[118],"highlighted":[119],"PIK3CD":[120,139,178],"(p.Gln431Arg)":[121,179],"as":[122],"gene":[125],"one":[127],"patient":[128],"perforant":[130,183],"stroke.":[131],"However,":[132],"more":[134],"cases":[135],"variants,":[140],"functional":[142],"studies":[143],"are":[144],"warranted":[145],"its":[148],"pathogenicity":[149],"impact.":[150],"Conclusions":[151],"Trio-based":[152],"WES":[153],"did":[154],"not":[155],"identify":[156],"monogenic":[158],"cause":[159],"Coding":[163],"therefore":[165],"appear":[166],"unlikely":[167],"explain":[169],"underlying":[171],"base":[173],"disease.":[176],"Furthermore,":[177],"may":[180,208],"contribute":[181],"stroke,":[184],"although":[185],"it":[186],"requires":[187],"further":[188,210],"association":[189],"evidence.":[190],"As":[191],"potential":[193],"role":[194],"non-coding":[196],"structural":[198],"remains":[202],"possible,":[203],"genome-wide":[204],"long-read":[205],"approaches":[207],"provide":[209],"insights":[211],"into":[212],"architecture":[215],"this":[217],"condition.":[218]},"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-12-18T00:00:00"}