{"id":"https://openalex.org/W2005274995","doi":"https://doi.org/10.1038/ng1092-107","title":"Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X\u2013linked hydrocephalus","display_name":"Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X\u2013linked hydrocephalus","publication_year":1992,"publication_date":"1992-10-01","ids":{"openalex":"https://openalex.org/W2005274995","doi":"https://doi.org/10.1038/ng1092-107","mag":"2005274995","pmid":"https://pubmed.ncbi.nlm.nih.gov/1303258"},"language":"en","primary_location":{"id":"doi:10.1038/ng1092-107","doi":"https://doi.org/10.1038/ng1092-107","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng1092-107","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2005274995"],"child_works_count":0,"type":"article","is_traditional":true,"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/A5109849322","display_name":"Andr\u00e9 Rosenthal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andr\u00e9 Rosenthal","raw_affiliation_strings":["Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK","MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031173084","display_name":"Monique Jouet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Monique Jouet","raw_affiliation_strings":["MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK","MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111666485","display_name":"Susan J. Kenwrick","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Susan Kenwrick","raw_affiliation_strings":["MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK","MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]},{"raw_affiliation_string":"MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Cambridge, UK","institution_ids":["https://openalex.org/I241749"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":4.4697,"has_fulltext":false,"cited_by_count":324,"citation_normalized_percentile":{"value":0.95843817,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"2","issue":"2","first_page":"107","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.6714000105857849,"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"}},"topics":[{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.6714000105857849,"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":0.12430000305175781,"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/T11406","display_name":"Cerebrospinal fluid and hydrocephalus","score":0.09520000219345093,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/x-linked-hydrocephalus","display_name":"X-linked hydrocephalus","score":0.9459999799728394},{"id":"https://openalex.org/keywords/mrna-splicing","display_name":"mRNA splicing","score":0.6980000138282776},{"id":"https://openalex.org/keywords/alternative-3-splice-site","display_name":"alternative 3' splice site","score":0.8519999980926514},{"id":"https://openalex.org/keywords/xq28","display_name":"Xq28","score":0.843999981880188},{"id":"https://openalex.org/keywords/neuronal-migration","display_name":"neuronal migration","score":0.7599999904632568},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7990000247955322},{"id":"https://openalex.org/keywords/ventricular-dilation","display_name":"ventriculomegaly","score":0.5540000200271606}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.763573169708252},{"id":"https://openalex.org/C122871604","wikidata":"https://www.wikidata.org/wiki/Q2248886","display_name":"Neural cell adhesion molecule","level":4,"score":0.7534964084625244},{"id":"https://openalex.org/C206592519","wikidata":"https://www.wikidata.org/wiki/Q1437419","display_name":"L1","level":3,"score":0.6556422710418701},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6375843286514282},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6345508098602295},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5913381576538086},{"id":"https://openalex.org/C2777082864","wikidata":"https://www.wikidata.org/wiki/Q2634206","display_name":"Xq28","level":4,"score":0.5611239075660706},{"id":"https://openalex.org/C2778134817","wikidata":"https://www.wikidata.org/wiki/Q193003","display_name":"Hydrocephalus","level":2,"score":0.5598083138465881},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5386052131652832},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5384777188301086},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4783582091331482},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.44094690680503845},{"id":"https://openalex.org/C16224149","wikidata":"https://www.wikidata.org/wiki/Q187637","display_name":"Cell adhesion molecule","level":2,"score":0.4368826746940613},{"id":"https://openalex.org/C105580179","wikidata":"https://www.wikidata.org/wiki/Q188928","display_name":"Messenger RNA","level":3,"score":0.4121835231781006},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.38132375478744507},{"id":"https://openalex.org/C85789140","wikidata":"https://www.wikidata.org/wiki/Q187640","display_name":"Cell adhesion","level":3,"score":0.3730483949184418},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.3493088185787201},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.32350680232048035},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.28643739223480225},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.10110962390899658},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002465","descriptor_name":"Cell Movement","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","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":"D006849","descriptor_name":"Hydrocephalus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006849","descriptor_name":"Hydrocephalus","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009474","descriptor_name":"Neurons","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015816","descriptor_name":"Cell Adhesion Molecules, Neuronal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015816","descriptor_name":"Cell Adhesion Molecules, Neuronal","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D039841","descriptor_name":"Leukocyte L1 Antigen Complex","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/ng1092-107","doi":"https://doi.org/10.1038/ng1092-107","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng1092-107","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:1303258","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1303258","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":"Nature genetics","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":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1528756469","https://openalex.org/W1561136105","https://openalex.org/W1597901734","https://openalex.org/W1972009259","https://openalex.org/W1978065796","https://openalex.org/W1991392504","https://openalex.org/W2006220806","https://openalex.org/W2009805643","https://openalex.org/W2014395811","https://openalex.org/W2016366860","https://openalex.org/W2022059940","https://openalex.org/W2040902338","https://openalex.org/W2041713925","https://openalex.org/W2061741131","https://openalex.org/W2066122853","https://openalex.org/W2087838126","https://openalex.org/W2154570524","https://openalex.org/W2167366063","https://openalex.org/W2173963963"],"related_works":["https://openalex.org/W2004986948","https://openalex.org/W1975111504","https://openalex.org/W2029944189","https://openalex.org/W2026801936","https://openalex.org/W1963927664","https://openalex.org/W1974475474","https://openalex.org/W189112972","https://openalex.org/W2030934752","https://openalex.org/W1599371469","https://openalex.org/W2471510890"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":21},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":11},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-15T12:55:33.944570","created_date":"2016-06-24T00:00:00"}
