{"id":"https://openalex.org/W2131661870","doi":"https://doi.org/10.1016/j.ejmg.2011.10.004","title":"Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency","display_name":"Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency","publication_year":2011,"publication_date":"2011-12-01","ids":{"openalex":"https://openalex.org/W2131661870","doi":"https://doi.org/10.1016/j.ejmg.2011.10.004","mag":"2131661870","pmid":"https://pubmed.ncbi.nlm.nih.gov/22178256"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2011.10.004","doi":"https://doi.org/10.1016/j.ejmg.2011.10.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2011.10.004","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","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/A5017815983","display_name":"Leonardo Pires Capelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019035496","display_name":"AC Camargo Hospital","ror":"https://ror.org/03025ga79","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I3019035496"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Leonardo P. Capelli","raw_affiliation_strings":["A C Camargo Cancer Hospital, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"A C Camargo Cancer Hospital, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I3019035496"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051576570","display_name":"Ana Cristina Victorino Krepischi","orcid":"https://orcid.org/0000-0003-2931-8605","observed_orcids":["https://orcid.org/0000-0003-2931-8605"]},"institutions":[{"id":"https://openalex.org/I3019035496","display_name":"AC Camargo Hospital","ror":"https://ror.org/03025ga79","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I3019035496"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Ana C.V. Krepischi","raw_affiliation_strings":["A. C. Camargo Cancer Hospital, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"A. C. Camargo Cancer Hospital, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I3019035496"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064298151","display_name":"Juliana Gurgel\u2010Giannetti","orcid":"https://orcid.org/0000-0003-3335-1491","observed_orcids":["https://orcid.org/0000-0003-3335-1491"]},"institutions":[{"id":"https://openalex.org/I110200422","display_name":"Universidade Federal de Minas Gerais","ror":"https://ror.org/0176yjw32","country_code":"BR","type":"education","lineage":["https://openalex.org/I110200422"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Juliana Gurgel-Giannetti","raw_affiliation_strings":["Pediatric Department, Federal University of Minas Gerais, Brazil","Universidade Federal de Minas Gerais#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Department, Federal University of Minas Gerais, Brazil","institution_ids":["https://openalex.org/I110200422"]},{"raw_affiliation_string":"Universidade Federal de Minas Gerais#TAB#","institution_ids":["https://openalex.org/I110200422"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100890185","display_name":"Mirian Fab\u00edola Studart Gurgel Mendes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210088808","display_name":"Hospital Madre Teresa","ror":"https://ror.org/003hjp881","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210088808"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Mirian Fabiola S. Mendes","raw_affiliation_strings":["Madre Teresa Hospital, Belo Horizonte, Brazil","Hospital Madre Teresa"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Madre Teresa Hospital, Belo Horizonte, Brazil","institution_ids":["https://openalex.org/I4210088808"]},{"raw_affiliation_string":"Hospital Madre Teresa","institution_ids":["https://openalex.org/I4210088808"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101396842","display_name":"Tatiane Cristina Rodrigues","orcid":"https://orcid.org/0000-0001-6393-1281","observed_orcids":["https://orcid.org/0000-0001-6393-1281"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Tatiane Rodrigues","raw_affiliation_strings":["Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","Universidade de Sao Paulo#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Universidade de Sao Paulo#TAB#","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111988623","display_name":"Monica Castro Varela","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Monica C. Varela","raw_affiliation_strings":["Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","Universidade de Sao Paulo#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Universidade de Sao Paulo#TAB#","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081880768","display_name":"C\u00e9lia Priszkulnik Koiffmann","orcid":"https://orcid.org/0000-0003-2305-0986","observed_orcids":["https://orcid.org/0000-0003-2305-0986"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"C\u00e9lia P. Koiffmann","raw_affiliation_strings":["Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","Universidade de Sao Paulo#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Universidade de Sao Paulo#TAB#","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037227707","display_name":"Carla Rosenberg","orcid":"https://orcid.org/0000-0003-3253-4448","observed_orcids":["https://orcid.org/0000-0003-3253-4448"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Carla Rosenberg","raw_affiliation_strings":["Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","Universidade de Sao Paulo#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]},{"raw_affiliation_string":"Universidade de Sao Paulo#TAB#","institution_ids":["https://openalex.org/I17974374"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5037227707"],"corresponding_institution_ids":["https://openalex.org/I17974374"],"apc_list":{"value":3330,"currency":"USD","value_usd":3330},"apc_paid":null,"fwci":1.5929,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.83302612,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"55","issue":"2","first_page":"132","last_page":"134"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9843999743461609,"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"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9843999743461609,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.010099999606609344,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.001500000013038516,"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/angelman-syndrome","display_name":"Angelman syndrome","score":0.7699999809265137},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.49000000953674316},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9300000071525574},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.5289999842643738},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.7699999809265137},{"id":"https://openalex.org/keywords/global-developmental-delay","display_name":"global developmental delay","score":0.6380000114440918},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.8320000171661377},{"id":"https://openalex.org/keywords/charge-syndrome","display_name":"CHARGE syndrome","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.9204977750778198},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5959743857383728},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.5641810297966003},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4742112457752228},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4681074321269989},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4361632466316223},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4320662021636963},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.10434222221374512}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017204","descriptor_name":"Angelman Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.ejmg.2011.10.004","doi":"https://doi.org/10.1016/j.ejmg.2011.10.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2011.10.004","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:22178256","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22178256","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":"European journal of medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:www.producao.usp.br:BDPI/42629","doi":null,"is_oa":false,"landing_page_url":"http://www.producao.usp.br/handle/BDPI/42629","pdf_url":null,"source":{"id":"https://openalex.org/S4306401373","display_name":"Scientific Electronic Library Online (S\u00e3o Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2982035970","host_organization_name":"Costa Rican Department of Social Security","host_organization_lineage":["https://openalex.org/I2982035970"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320997","display_name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","ror":"https://ror.org/02ddkpn78"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1590977598","https://openalex.org/W1967137509","https://openalex.org/W1967410657","https://openalex.org/W1999546459","https://openalex.org/W2007839434","https://openalex.org/W2036841261","https://openalex.org/W2056701871","https://openalex.org/W2061869968","https://openalex.org/W2116283958","https://openalex.org/W2141548432"],"related_works":["https://openalex.org/W4399072516","https://openalex.org/W2013927399","https://openalex.org/W7160406177","https://openalex.org/W2092814182","https://openalex.org/W2036880421","https://openalex.org/W2013960233","https://openalex.org/W1975808341","https://openalex.org/W119840389","https://openalex.org/W2034371853","https://openalex.org/W2089232368"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}