{"id":"https://openalex.org/W2102546321","doi":"https://doi.org/10.1038/gim.2011.7","title":"Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations","display_name":"Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W2102546321","doi":"https://doi.org/10.1038/gim.2011.7","mag":"2102546321","pmid":"https://pubmed.ncbi.nlm.nih.gov/22237444"},"language":"en","primary_location":{"id":"doi:10.1038/gim.2011.7","doi":"https://doi.org/10.1038/gim.2011.7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2011.7","pdf_url":null,"source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","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":"Genetics in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1038/gim.2011.7","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Maria Concei\u00e7\u00e3o Pereira","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Maria Concei\u00e7\u00e3o Pereira","raw_affiliation_strings":["UnIGENe, IBMC, Porto, Portugal","CGPP, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]},{"raw_affiliation_string":"CGPP, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024824252","display_name":"Jos\u00e9 Leal Loureiro","orcid":"https://orcid.org/0000-0002-6195-5412","observed_orcids":["https://orcid.org/0000-0002-6195-5412"]},"institutions":[{"id":"https://openalex.org/I4210156289","display_name":"Hospital de S\u00e3o Sebasti\u00e3o","ror":"https://ror.org/05j4pfa30","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210091249","https://openalex.org/I4210156289"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Leal Loureiro","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","institution_ids":["https://openalex.org/I4210156289"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053454889","display_name":"Jorge Pinto\u2010Basto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]},{"id":"https://openalex.org/I4405263123","display_name":"Instituto de Ci\u00eancias Biom\u00e9dicas Albel Salazar","ror":"https://ror.org/02trb6b02","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Jorge Pinto-Basto","raw_affiliation_strings":["CGPP, IBMC, Porto, Portugal","ICBAS, University of Porto, Porto, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CGPP, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]},{"raw_affiliation_string":"ICBAS, University of Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112496871","display_name":"Eva Brand\u00e3o","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210156289","display_name":"Hospital de S\u00e3o Sebasti\u00e3o","ror":"https://ror.org/05j4pfa30","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210091249","https://openalex.org/I4210156289"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Eva Brand\u00e3o","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","institution_ids":["https://openalex.org/I4210156289"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Ana Margarida Lopes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Ana Margarida Lopes","raw_affiliation_strings":["CGPP, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CGPP, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074922676","display_name":"Georgina Neves","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210111494","display_name":"Unidade Local de Sa\u00fade de Tr\u00e1s-os-Montes e Alto Douro","ror":"https://ror.org/01yvs7t05","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210111494"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Georgina Neves","raw_affiliation_strings":["Servi\u00e7o Neurologia, Centro Hospitalar de Vila Real/Peso da R\u00e9gua, Vila Real, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Centro Hospitalar de Vila Real/Peso da R\u00e9gua, Vila Real, Portugal","institution_ids":["https://openalex.org/I4210111494"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018464712","display_name":"Pureza Dias","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405253791","display_name":"Hospital de Santo Andr\u00e9","ror":"https://ror.org/013cs1q72","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4405253791"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Pureza Dias","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital Santo Andr\u00e9 de Leiria, Leiria, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital Santo Andr\u00e9 de Leiria, Leiria, Portugal","institution_ids":["https://openalex.org/I4405253791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039040432","display_name":"Ruth Geraldes","orcid":"https://orcid.org/0000-0001-5829-808X","observed_orcids":["https://orcid.org/0000-0001-5829-808X"]},"institutions":[{"id":"https://openalex.org/I4210149283","display_name":"Hospital de Santa Maria","ror":"https://ror.org/05bz1tw26","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210149283"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Ruth Geraldes","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital de Santa Maria, Lisboa, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital de Santa Maria, Lisboa, Portugal","institution_ids":["https://openalex.org/I4210149283"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021348208","display_name":"Isabel Pav\u00e3o Martins","orcid":"https://orcid.org/0000-0002-9611-7400","observed_orcids":["https://orcid.org/0000-0002-9611-7400"]},"institutions":[{"id":"https://openalex.org/I4210149283","display_name":"Hospital de Santa Maria","ror":"https://ror.org/05bz1tw26","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210149283"]}],"countries":["PT"],"is_corresponding":true,"raw_author_name":"Isabel Pav\u00e3o Martins","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital de Santa Maria, Lisboa, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital de Santa Maria, Lisboa, Portugal","institution_ids":["https://openalex.org/I4210149283"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021145097","display_name":"V\u00edtor Tedim Cruz","orcid":"https://orcid.org/0000-0002-5333-4771","observed_orcids":["https://orcid.org/0000-0002-5333-4771"]},"institutions":[{"id":"https://openalex.org/I4210156289","display_name":"Hospital de S\u00e3o Sebasti\u00e3o","ror":"https://ror.org/05j4pfa30","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210091249","https://openalex.org/I4210156289"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Vitor Tedim Cruz","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","institution_ids":["https://openalex.org/I4210156289"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087332579","display_name":"Erik\u2010Jan Kamsteeg","orcid":"https://orcid.org/0000-0001-6480-1892","observed_orcids":["https://orcid.org/0000-0001-6480-1892"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erik-Jan Kamsteeg","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030485933","display_name":"Han G. Brunner","orcid":"https://orcid.org/0000-0001-9274-8865","observed_orcids":["https://orcid.org/0000-0001-9274-8865"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Han G. Brunner","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063901385","display_name":"Paula Coutinho","orcid":"https://orcid.org/0000-0002-3461-230X","observed_orcids":["https://orcid.org/0000-0002-3461-230X"]},"institutions":[{"id":"https://openalex.org/I4210156289","display_name":"Hospital de S\u00e3o Sebasti\u00e3o","ror":"https://ror.org/05j4pfa30","country_code":"PT","type":"healthcare","lineage":["https://openalex.org/I4210091249","https://openalex.org/I4210156289"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Paula Coutinho","raw_affiliation_strings":["Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o Neurologia, Hospital S\u00e3o Sebasti\u00e3o, Feira, Portugal","institution_ids":["https://openalex.org/I4210156289"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004413817","display_name":"Jorge Sequeiros","orcid":"https://orcid.org/0000-0002-9846-1037","observed_orcids":["https://orcid.org/0000-0002-9846-1037"]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]},{"id":"https://openalex.org/I4405263123","display_name":"Instituto de Ci\u00eancias Biom\u00e9dicas Albel Salazar","ror":"https://ror.org/02trb6b02","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Jorge Sequeiros","raw_affiliation_strings":["CGPP, IBMC, Porto, Portugal","ICBAS, University of Porto, Porto, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CGPP, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]},{"raw_affiliation_string":"ICBAS, University of Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039195824","display_name":"Isabel da Concei\u00e7\u00e3o Moreira Pereira Alonso","orcid":"https://orcid.org/0000-0001-8549-6903","observed_orcids":["https://orcid.org/0000-0001-8549-6903"]},"institutions":[{"id":"https://openalex.org/I182534213","display_name":"Universidade do Porto","ror":"https://ror.org/043pwc612","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213"]},{"id":"https://openalex.org/I4387153674","display_name":"Instituto de Biologia Molecular e Celular","ror":"https://ror.org/005dkht93","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4387153674"]},{"id":"https://openalex.org/I4405263123","display_name":"Instituto de Ci\u00eancias Biom\u00e9dicas Albel Salazar","ror":"https://ror.org/02trb6b02","country_code":"PT","type":"education","lineage":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]}],"countries":["PT"],"is_corresponding":false,"raw_author_name":"Isabel Alonso","raw_affiliation_strings":["CGPP, IBMC, Porto, Portugal","ICBAS, University of Porto, Porto, Portugal","UnIGENe, IBMC, Porto, Portugal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CGPP, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]},{"raw_affiliation_string":"ICBAS, University of Porto, Porto, Portugal","institution_ids":["https://openalex.org/I182534213","https://openalex.org/I4405263123"]},{"raw_affiliation_string":"UnIGENe, IBMC, Porto, Portugal","institution_ids":["https://openalex.org/I4387153674"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5021348208"],"corresponding_institution_ids":["https://openalex.org/I4210149283"],"apc_list":{"value":5110,"currency":"USD","value_usd":5110},"apc_paid":null,"fwci":0.7554,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.64505099,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"14","issue":"1","first_page":"143","last_page":"151"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9994999766349792,"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"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":9.999999747378752e-05,"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/spg11","display_name":"SPG11","score":0.9079999923706055},{"id":"https://openalex.org/keywords/alu-elements","display_name":"Alu elements","score":0.7829999923706055},{"id":"https://openalex.org/keywords/spatacsin","display_name":"spatacsin","score":0.7689999938011169},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.5730000138282776},{"id":"https://openalex.org/keywords/exon-deletion","display_name":"exon deletion","score":0.5490000247955322},{"id":"https://openalex.org/keywords/recombination-hotspots","display_name":"recombination hotspots","score":0.824999988079071},{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.8840000033378601},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.7979999780654907},{"id":"https://openalex.org/keywords/repetitive-dna","display_name":"repetitive DNA","score":0.46399998664855957}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.9129912853240967},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.706445038318634},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5438467264175415},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4993417263031006},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.49563467502593994},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49229609966278076},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.4499269425868988},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44229888916015625},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26624175906181335},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.1580735445022583},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D005838","descriptor_name":"Genotype","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":"D007223","descriptor_name":"Infant","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":"D008875","descriptor_name":"Middle Aged","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020087","descriptor_name":"Alu Elements","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023061","descriptor_name":"Gene Order","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056905","descriptor_name":"Chromosome Breakpoints","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1038/gim.2011.7","doi":"https://doi.org/10.1038/gim.2011.7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2011.7","pdf_url":null,"source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","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":"Genetics in Medicine","raw_type":"journal-article"},{"id":"pmid:22237444","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22237444","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":"Genetics in medicine : official journal of the American College of Medical Genetics","raw_type":"Journal Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/109070","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/109070","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics in Medicine, 14, 1, pp. 143-51","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/109070","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/109070","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics in Medicine, 14, 143 - 51","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/gim.2011.7","doi":"https://doi.org/10.1038/gim.2011.7","is_oa":true,"landing_page_url":"https://doi.org/10.1038/gim.2011.7","pdf_url":null,"source":{"id":"https://openalex.org/S187186932","display_name":"Genetics in Medicine","issn_l":"1098-3600","issn":["1098-3600","1530-0366"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-1","poland-200","russia-white-list-1","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":"Genetics in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W1965274900","https://openalex.org/W1984098403","https://openalex.org/W1985252531","https://openalex.org/W1985348219","https://openalex.org/W1986956706","https://openalex.org/W2003785585","https://openalex.org/W2009757848","https://openalex.org/W2012485466","https://openalex.org/W2013550946","https://openalex.org/W2014714348","https://openalex.org/W2023767340","https://openalex.org/W2026317343","https://openalex.org/W2026360271","https://openalex.org/W2030323195","https://openalex.org/W2033242271","https://openalex.org/W2037732239","https://openalex.org/W2046250120","https://openalex.org/W2051541780","https://openalex.org/W2059193843","https://openalex.org/W2091037348","https://openalex.org/W2099564671","https://openalex.org/W2099589970","https://openalex.org/W2113516692","https://openalex.org/W2118026292","https://openalex.org/W2118094114","https://openalex.org/W2123943285","https://openalex.org/W2130021519","https://openalex.org/W2144054436","https://openalex.org/W2145957078","https://openalex.org/W2146050366","https://openalex.org/W2148353533","https://openalex.org/W2151994539","https://openalex.org/W2153053571","https://openalex.org/W2157532809","https://openalex.org/W2160288595","https://openalex.org/W2163615742","https://openalex.org/W2165668267","https://openalex.org/W2168909179","https://openalex.org/W7096257995"],"related_works":["https://openalex.org/W7038417406","https://openalex.org/W2075100348","https://openalex.org/W2146050366","https://openalex.org/W3000775716","https://openalex.org/W1999549976","https://openalex.org/W2765994026","https://openalex.org/W2165668267","https://openalex.org/W3210618602","https://openalex.org/W4416840656","https://openalex.org/W4400133655"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}