{"id":"https://openalex.org/W4230194875","doi":"https://doi.org/10.1016/j.neulet.2006.08.017","title":"High frequency of neurexin 1\u03b2 signal peptide structural variants in patients with autism","display_name":"High frequency of neurexin 1\u03b2 signal peptide structural variants in patients with autism","publication_year":2006,"publication_date":"2006-10-11","ids":{"openalex":"https://openalex.org/W4230194875","doi":"https://doi.org/10.1016/j.neulet.2006.08.017","pmid":"https://pubmed.ncbi.nlm.nih.gov/17034946"},"language":"en","primary_location":{"id":"doi:10.1016/j.neulet.2006.08.017","doi":"https://doi.org/10.1016/j.neulet.2006.08.017","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2006.08.017","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/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, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, 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":["J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","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, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101980974","display_name":"Wenjia Song","orcid":"https://orcid.org/0009-0002-9597-3587","observed_orcids":["https://orcid.org/0009-0002-9597-3587"]},"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":"Wenjia Song","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101826262","display_name":"Chunmei Yang","orcid":"https://orcid.org/0000-0003-4810-1049","observed_orcids":["https://orcid.org/0000-0003-4810-1049"]},"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":"Chunmei Yang","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032764328","display_name":"Anke Bockholt","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":"Anke Bockholt","raw_affiliation_strings":["Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002090056","display_name":"Edwin H. Cook","orcid":"https://orcid.org/0000-0002-5848-5114","observed_orcids":["https://orcid.org/0000-0002-5848-5114"]},"institutions":[{"id":"https://openalex.org/I39422238","display_name":"University of Illinois Chicago","ror":"https://ror.org/02mpq6x41","country_code":"US","type":"education","lineage":["https://openalex.org/I39422238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edwin H. Cook","raw_affiliation_strings":["Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA","institution_ids":["https://openalex.org/I39422238"]}]},{"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":["J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"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":["J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"J.C. Self Research Institute, The Greenwood Genetic Center, Greenwood, SC 29646, 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 Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010-3000, USA","institution_ids":["https://openalex.org/I1301076528"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"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":10.6899,"has_fulltext":false,"cited_by_count":271,"citation_normalized_percentile":{"value":0.9912026,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"409","issue":"1","first_page":"10","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.6074000000953674,"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":0.6074000000953674,"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":0.3889000117778778,"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":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.7369999885559082},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.902999997138977},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7179999947547913},{"id":"https://openalex.org/keywords/autism-susceptibility","display_name":"autism susceptibility","score":0.7149999737739563},{"id":"https://openalex.org/keywords/neuroligins","display_name":"neuroligins","score":0.8299999833106995},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.6159999966621399},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.7620000243186951}],"concepts":[{"id":"https://openalex.org/C2778162979","wikidata":"https://www.wikidata.org/wiki/Q4316431","display_name":"Neurexin","level":4,"score":0.9404410719871521},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.6502976417541504},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5856379270553589},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5758666396141052},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5616456866264343},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5451081395149231},{"id":"https://openalex.org/C2779790309","wikidata":"https://www.wikidata.org/wiki/Q4316446","display_name":"Neuroligin","level":4,"score":0.5198895931243896},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.415189653635025},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.30004391074180603},{"id":"https://openalex.org/C197341189","wikidata":"https://www.wikidata.org/wiki/Q863533","display_name":"Postsynaptic potential","level":3,"score":0.24445301294326782},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22583752870559692},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.22446176409721375},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.10264810919761658},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004251","descriptor_name":"DNA Transposable Elements","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011569","descriptor_name":"Psychiatric Status Rating Scales","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014481","descriptor_name":"United States","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.neulet.2006.08.017","doi":"https://doi.org/10.1016/j.neulet.2006.08.017","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neulet.2006.08.017","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:17034946","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17034946","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":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W36301068","https://openalex.org/W70183072","https://openalex.org/W1513458886","https://openalex.org/W1980309199","https://openalex.org/W1996092810","https://openalex.org/W1997494682","https://openalex.org/W1997714374","https://openalex.org/W2015262258","https://openalex.org/W2018581402","https://openalex.org/W2025470742","https://openalex.org/W2026473386","https://openalex.org/W2028095779","https://openalex.org/W2033481426","https://openalex.org/W2051468191","https://openalex.org/W2064352628","https://openalex.org/W2072086952","https://openalex.org/W2093505997","https://openalex.org/W2099381267","https://openalex.org/W2125147395","https://openalex.org/W2130421403","https://openalex.org/W2136717975","https://openalex.org/W2138879032","https://openalex.org/W2159457615","https://openalex.org/W2222864307","https://openalex.org/W2909541531","https://openalex.org/W4253710896"],"related_works":["https://openalex.org/W2013336853","https://openalex.org/W2766944607","https://openalex.org/W2019130459","https://openalex.org/W2093170549","https://openalex.org/W2074582721","https://openalex.org/W1990689485","https://openalex.org/W1935300532","https://openalex.org/W4408472669","https://openalex.org/W4235253106","https://openalex.org/W7098212266"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":13},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":15},{"year":2016,"cited_by_count":18},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":23},{"year":2012,"cited_by_count":19}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-05-11T00:00:00"}
