{"id":"https://openalex.org/W2013336853","doi":"https://doi.org/10.1016/j.neulet.2008.04.074","title":"Neurexin 1\u03b1 structural variants associated with autism","display_name":"Neurexin 1\u03b1 structural variants associated with autism","publication_year":2008,"publication_date":"2008-04-26","ids":{"openalex":"https://openalex.org/W2013336853","doi":"https://doi.org/10.1016/j.neulet.2008.04.074","mag":"2013336853","pmid":"https://pubmed.ncbi.nlm.nih.gov/18490107"},"language":"en","primary_location":{"id":"doi:10.1016/j.neulet.2008.04.074","doi":"https://doi.org/10.1016/j.neulet.2008.04.074","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2008.04.074","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","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/A5000444143","display_name":"Yan Jin","orcid":"https://orcid.org/0000-0001-5957-7443","observed_orcids":["https://orcid.org/0000-0001-5957-7443"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jin Yan","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014542160","display_name":"Katie Noltner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katie Noltner","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058921323","display_name":"Jinong Feng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jinong Feng","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100749171","display_name":"Wenyan Li","orcid":"https://orcid.org/0000-0001-9575-7812","observed_orcids":["https://orcid.org/0000-0001-9575-7812"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenyan Li","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081112997","display_name":"Richard J. Schroer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Schroer","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, SC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, SC, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066213478","display_name":"Cindy D. Skinner","orcid":"https://orcid.org/0000-0002-7841-8277","observed_orcids":["https://orcid.org/0000-0002-7841-8277"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cindy Skinner","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, SC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, SC, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103191569","display_name":"Wenqi Zeng","orcid":"https://orcid.org/0009-0008-4953-4616","observed_orcids":["https://orcid.org/0009-0008-4953-4616"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenqi Zeng","raw_affiliation_strings":["Department of Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, SC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, SC, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103395304","display_name":"Steve S. Sommer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Steve S. Sommer","raw_affiliation_strings":["Department of Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]},{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5103395304"],"corresponding_institution_ids":["https://openalex.org/I1301076528"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":null,"fwci":11.3705,"has_fulltext":false,"cited_by_count":156,"citation_normalized_percentile":{"value":0.99109161,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"438","issue":"3","first_page":"368","last_page":"370"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.6488999724388123,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.6488999724388123,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.3474000096321106,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.671999990940094},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.8949999809265137},{"id":"https://openalex.org/keywords/ultra-rare-variants","display_name":"ultra-rare variants","score":0.8830000162124634},{"id":"https://openalex.org/keywords/splicing-mutation","display_name":"splicing mutation","score":0.824999988079071},{"id":"https://openalex.org/keywords/neuroligins","display_name":"neuroligins","score":0.9330000281333923},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.8460000157356262},{"id":"https://openalex.org/keywords/splice-junctions","display_name":"splice junctions","score":0.6299999952316284}],"concepts":[{"id":"https://openalex.org/C2778162979","wikidata":"https://www.wikidata.org/wiki/Q4316431","display_name":"Neurexin","level":4,"score":0.8816975355148315},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.7081080675125122},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4607774615287781},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.33901509642601013},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30663734674453735},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23929589986801147},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.13005542755126953},{"id":"https://openalex.org/C197341189","wikidata":"https://www.wikidata.org/wiki/Q863533","display_name":"Postsynaptic potential","level":3,"score":0.06591209769248962},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","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":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009479","descriptor_name":"Neuropeptides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.neulet.2008.04.074","doi":"https://doi.org/10.1016/j.neulet.2008.04.074","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2008.04.074","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","raw_type":"journal-article"},{"id":"pmid:18490107","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18490107","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":"Neuroscience letters","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":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W12411709","https://openalex.org/W1546762987","https://openalex.org/W1963660259","https://openalex.org/W1967291450","https://openalex.org/W1980309199","https://openalex.org/W1990122129","https://openalex.org/W1993621531","https://openalex.org/W1996092810","https://openalex.org/W2015262258","https://openalex.org/W2023238422","https://openalex.org/W2025470742","https://openalex.org/W2026473386","https://openalex.org/W2033481426","https://openalex.org/W2051468191","https://openalex.org/W2064352628","https://openalex.org/W2072086952","https://openalex.org/W2075515527","https://openalex.org/W2125147395","https://openalex.org/W2136717975","https://openalex.org/W2140085473","https://openalex.org/W2151566815","https://openalex.org/W2222864307","https://openalex.org/W4230194875","https://openalex.org/W4300232085"],"related_works":["https://openalex.org/W4230194875","https://openalex.org/W2766944607","https://openalex.org/W2093170549","https://openalex.org/W4235253106","https://openalex.org/W7098212266","https://openalex.org/W1990689485","https://openalex.org/W1935300532","https://openalex.org/W1976358763","https://openalex.org/W2019130459","https://openalex.org/W1982400758"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":12},{"year":2012,"cited_by_count":14}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}