{"id":"https://openalex.org/W2095201394","doi":"https://doi.org/10.1097/wnf.0b013e31823a1247","title":"Pharmacotherapeutic Implications of the Association Between Genomic Instability at Chromosome 15q13.3 and Autism Spectrum Disorders","display_name":"Pharmacotherapeutic Implications of the Association Between Genomic Instability at Chromosome 15q13.3 and Autism Spectrum Disorders","publication_year":2011,"publication_date":"2011-11-01","ids":{"openalex":"https://openalex.org/W2095201394","doi":"https://doi.org/10.1097/wnf.0b013e31823a1247","mag":"2095201394","pmid":"https://pubmed.ncbi.nlm.nih.gov/22094647"},"language":"en","primary_location":{"id":"doi:10.1097/wnf.0b013e31823a1247","doi":"https://doi.org/10.1097/wnf.0b013e31823a1247","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wnf.0b013e31823a1247","pdf_url":null,"source":{"id":"https://openalex.org/S3349026","display_name":"Clinical Neuropharmacology","issn_l":"0362-5664","issn":["0362-5664","1537-162X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Neuropharmacology","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/A5047021203","display_name":"Stephen I. Deutsch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I156802259","display_name":"Eastern Virginia Medical School","ror":"https://ror.org/056hr4255","country_code":"US","type":"education","lineage":["https://openalex.org/I156802259"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Stephen I. Deutsch","raw_affiliation_strings":["Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia 23507-1912, USA. deutscsi@evms.edu","Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","E-mail: [email\u00a0protected]","reprint requests to Stephen I. Deutsch, MD, PhD, Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Suite 710, 825 Fairfax Ave, Norfolk, Virginia 23507-1912"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia 23507-1912, USA. deutscsi@evms.edu","institution_ids":["https://openalex.org/I156802259"]},{"raw_affiliation_string":"Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","institution_ids":[]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","institution_ids":["https://openalex.org/I156802259"]},{"raw_affiliation_string":"E-mail: [email\u00a0protected]","institution_ids":[]},{"raw_affiliation_string":"reprint requests to Stephen I. Deutsch, MD, PhD, Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Suite 710, 825 Fairfax Ave, Norfolk, Virginia 23507-1912","institution_ids":["https://openalex.org/I156802259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031626148","display_name":"Maria R. Urbano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I156802259","display_name":"Eastern Virginia Medical School","ror":"https://ror.org/056hr4255","country_code":"US","type":"education","lineage":["https://openalex.org/I156802259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria R. Urbano","raw_affiliation_strings":["Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","institution_ids":[]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","institution_ids":["https://openalex.org/I156802259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028433506","display_name":"Jessica A. Burket","orcid":"https://orcid.org/0000-0002-1260-4747","observed_orcids":["https://orcid.org/0000-0002-1260-4747"]},"institutions":[{"id":"https://openalex.org/I156802259","display_name":"Eastern Virginia Medical School","ror":"https://ror.org/056hr4255","country_code":"US","type":"education","lineage":["https://openalex.org/I156802259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jessica A. Burket","raw_affiliation_strings":["Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","institution_ids":[]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","institution_ids":["https://openalex.org/I156802259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058881294","display_name":"Amy L. Herndon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I156802259","display_name":"Eastern Virginia Medical School","ror":"https://ror.org/056hr4255","country_code":"US","type":"education","lineage":["https://openalex.org/I156802259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Amy L. Herndon","raw_affiliation_strings":["Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","institution_ids":[]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","institution_ids":["https://openalex.org/I156802259"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023210170","display_name":"Erin E. Winebarger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I156802259","display_name":"Eastern Virginia Medical School","ror":"https://ror.org/056hr4255","country_code":"US","type":"education","lineage":["https://openalex.org/I156802259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin E. Winebarger","raw_affiliation_strings":["Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Conflict of Interest and Source of Funding: The authors have no conflicts of interest to declare","institution_ids":[]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Sciences, Eastern Virginia Medical School, Norfolk, Virginia","institution_ids":["https://openalex.org/I156802259"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5047021203"],"corresponding_institution_ids":["https://openalex.org/I156802259"],"apc_list":null,"apc_paid":null,"fwci":0.8115,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.7231356,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"34","issue":"6","first_page":"203","last_page":"205"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.4731000065803528,"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":0.4731000065803528,"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/T11818","display_name":"Nicotinic Acetylcholine Receptors Study","score":0.4350999891757965,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.023000000044703484,"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":0.9020000100135803},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.8050000071525574},{"id":"https://openalex.org/keywords/chrna7","display_name":"CHRNA7","score":0.8859999775886536},{"id":"https://openalex.org/keywords/alpha7-nicotinic-acetylcholine-receptor","display_name":"alpha7 nicotinic acetylcholine receptor","score":0.9629999995231628},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9950000047683716},{"id":"https://openalex.org/keywords/positive-allosteric-modulators","display_name":"positive allosteric modulators","score":0.8149999976158142},{"id":"https://openalex.org/keywords/choline","display_name":"choline","score":0.6230000257492065},{"id":"https://openalex.org/keywords/gabaergic-inhibition","display_name":"GABAergic inhibition","score":0.7609999775886536},{"id":"https://openalex.org/keywords/drug-therapy","display_name":"pharmacotherapy","score":0.5460000038146973}],"concepts":[{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.6480688452720642},{"id":"https://openalex.org/C140752955","wikidata":"https://www.wikidata.org/wiki/Q1087752","display_name":"Chromosome instability","level":4,"score":0.5114485025405884},{"id":"https://openalex.org/C178169997","wikidata":"https://www.wikidata.org/wiki/Q2892636","display_name":"Genome instability","level":4,"score":0.5038782954216003},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5006957054138184},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.46439674496650696},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4531361162662506},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43645432591438293},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2837907075881958},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.25694942474365234},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23902827501296997},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.10042139887809753},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.05838519334793091},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","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":"D011978","descriptor_name":"Receptors, Nicotinic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018722","descriptor_name":"Nicotinic Agonists","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D042822","descriptor_name":"Genomic Instability","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D042822","descriptor_name":"Genomic Instability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":true},{"descriptor_ui":"D057895","descriptor_name":"Haploinsufficiency","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D057895","descriptor_name":"Haploinsufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064569","descriptor_name":"alpha7 Nicotinic Acetylcholine Receptor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/wnf.0b013e31823a1247","doi":"https://doi.org/10.1097/wnf.0b013e31823a1247","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wnf.0b013e31823a1247","pdf_url":null,"source":{"id":"https://openalex.org/S3349026","display_name":"Clinical Neuropharmacology","issn_l":"0362-5664","issn":["0362-5664","1537-162X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Neuropharmacology","raw_type":"journal-article"},{"id":"pmid:22094647","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22094647","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":"Clinical neuropharmacology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.7900000214576721}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1964661706","https://openalex.org/W1977293696","https://openalex.org/W1984727828","https://openalex.org/W1996731930","https://openalex.org/W2031355884","https://openalex.org/W2061706174","https://openalex.org/W2062616602","https://openalex.org/W2066211691","https://openalex.org/W2078754214","https://openalex.org/W2140383855"],"related_works":["https://openalex.org/W3031425146","https://openalex.org/W4401191340","https://openalex.org/W1152359559","https://openalex.org/W2512025015","https://openalex.org/W1891363799","https://openalex.org/W4412418798","https://openalex.org/W2798129448","https://openalex.org/W2767064823","https://openalex.org/W4312117327","https://openalex.org/W1548483078"],"abstract_inverted_index":{"Recurrent":[0],"microdeletions":[1],"of":[2,16,36,43,76,80,97,109,116,124],"chromosome":[3],"15q13.3":[4],"are":[5],"causally":[6],"associated":[7],"with":[8,71,134],"autism":[9],"spectrum":[10],"disorders":[11],"(ASDs),":[12],"suggesting":[13],"that":[14,20],"haploinsufficiency":[15],"CHRNA7,":[17],"the":[18,23,41,66,74,88,114],"gene":[19],"codes":[21],"for":[22,63,87],"\u03b17":[24,44,67,89,117],"nicotinic":[25,81],"acetylcholine":[26,82],"receptor":[27],"(\u03b17":[28],"nAChR)":[29],"subunit,":[30],"is":[31,104],"an":[32],"etiological":[33],"mechanism.":[34],"Independent":[35],"these":[37],"genetic":[38],"data,":[39],"given":[40],"location":[42],"nAChRs":[45],"on":[46,122],"\u03b3-aminobutyric":[47],"acid-inhibitory":[48],"neurons":[49],"and":[50,84,100,130],"their":[51],"role":[52],"in":[53,69,132],"maintaining":[54],"central":[55],"inhibitory":[56],"tone,":[57],"a":[58],"compelling":[59],"pharmacological":[60],"rationale":[61],"exists":[62],"therapeutically":[64],"targeting":[65],"nAChR":[68,90,118],"persons":[70,133],"ASDs.":[72,135],"Given":[73],"availability":[75],"positive":[77],"allosteric":[78],"modulators":[79],"receptors":[83],"selective":[85],"agonists":[86],"(eg,":[91],"choline":[92],"derived":[93],"from":[94],"dietary":[95],"administration":[96],"cytidine":[98],"5'diphosphocholine":[99],"anabasine":[101],"derivatives),":[102],"it":[103],"possible":[105],"to":[106],"conduct":[107],"\"proof":[108],"concept\"":[110],"clinical":[111],"trials,":[112],"exploring":[113],"effects":[115],"agonist":[119],"interventional":[120],"strategies":[121],"domains":[123],"psychopathology,":[125],"such":[126],"as":[127],"attention,":[128],"cognition,":[129],"memory,":[131]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
