{"id":"https://openalex.org/W1976550985","doi":"https://doi.org/10.1038/ejhg.2013.210","title":"Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues","display_name":"Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues","publication_year":2013,"publication_date":"2013-10-02","ids":{"openalex":"https://openalex.org/W1976550985","doi":"https://doi.org/10.1038/ejhg.2013.210","mag":"1976550985","pmid":"https://pubmed.ncbi.nlm.nih.gov/24084572","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3992572"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2013.210","doi":"https://doi.org/10.1038/ejhg.2013.210","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2013.210","pdf_url":"https://www.nature.com/articles/ejhg2013210.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","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://www.nature.com/articles/ejhg2013210.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069130203","display_name":"Saeed Bohlega","orcid":"https://orcid.org/0000-0002-1046-6571","observed_orcids":["https://orcid.org/0000-0002-1046-6571"]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Saeed Bohlega","raw_affiliation_strings":["Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012407740","display_name":"Huda Alajlan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Huda Al-Ajlan","raw_affiliation_strings":["Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109011267","display_name":"Amr M. Al-Saif","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA","US"],"is_corresponding":true,"raw_author_name":"Amr Al-Saif","raw_affiliation_strings":["1] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia [2] Laboratory of Neurogenetics, National Institutes of Health, Bethesda, MD, USA","Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia [2] Laboratory of Neurogenetics, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I2800965796"]},{"raw_affiliation_string":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5109011267"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I2800965796"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.08111998,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"22","issue":"5","first_page":"640","last_page":"643"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.5288000106811523,"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/T11310","display_name":"Connective tissue disorders research","score":0.5288000106811523,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.4221000075340271,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.014999999664723873,"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/fibulin-1","display_name":"fibulin-1","score":1.0},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7110000252723694},{"id":"https://openalex.org/keywords/disulfide-bonds","display_name":"disulfide bonds","score":0.7369999885559082},{"id":"https://openalex.org/keywords/extracellular-matrix-proteins","display_name":"extracellular matrix proteins","score":0.7039999961853027},{"id":"https://openalex.org/keywords/elastic-fibers","display_name":"elastic fibers","score":0.8980000019073486},{"id":"https://openalex.org/keywords/basement-membrane","display_name":"basement membrane","score":0.7519999742507935},{"id":"https://openalex.org/keywords/syndactyly","display_name":"syndactyly","score":0.9509999752044678},{"id":"https://openalex.org/keywords/cryptorchidism","display_name":"cryptorchidism","score":0.9459999799728394},{"id":"https://openalex.org/keywords/delayed-motor-development","display_name":"delayed motor development","score":0.7350000143051147},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9399999976158142},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.9879999756813049},{"id":"https://openalex.org/keywords/connective-tissue-diseases","display_name":"connective tissue diseases","score":0.8169999718666077},{"id":"https://openalex.org/keywords/central-nervous-system-development","display_name":"central nervous system development","score":0.8970000147819519},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.8009999990463257},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.8059999942779541},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8450000286102295}],"concepts":[{"id":"https://openalex.org/C2778122751","wikidata":"https://www.wikidata.org/wiki/Q5446488","display_name":"Fibulin","level":3,"score":0.9581037163734436},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7407501935958862},{"id":"https://openalex.org/C2910325231","wikidata":"https://www.wikidata.org/wiki/Q1779300","display_name":"Connective Tissue Disorder","level":2,"score":0.6658809185028076},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.622646689414978},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5498988628387451},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5084604024887085},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5021982192993164},{"id":"https://openalex.org/C518705261","wikidata":"https://www.wikidata.org/wiki/Q25615","display_name":"Connective tissue","level":2,"score":0.4944150447845459},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46037086844444275},{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.4514932334423065},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4136570990085602},{"id":"https://openalex.org/C189165786","wikidata":"https://www.wikidata.org/wiki/Q193825","display_name":"Extracellular matrix","level":2,"score":0.3966703414916992},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.262844979763031},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.191115140914917},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13720065355300903},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002135","descriptor_name":"Calcium-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002135","descriptor_name":"Calcium-Binding Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D002493","descriptor_name":"Central Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003240","descriptor_name":"Connective Tissue Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D006720","descriptor_name":"Homozygote","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":"D008279","descriptor_name":"Magnetic Resonance Imaging","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":"D008958","descriptor_name":"Models, Molecular","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":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013116","descriptor_name":"Spinal Cord","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1038/ejhg.2013.210","doi":"https://doi.org/10.1038/ejhg.2013.210","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2013.210","pdf_url":"https://www.nature.com/articles/ejhg2013210.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3375669","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3992572","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3992572","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3992572","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Eur J Hum Genet","raw_type":"Text"},{"id":"pmid:24084572","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24084572","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 human genetics : EJHG","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1038/ejhg.2013.210","doi":"https://doi.org/10.1038/ejhg.2013.210","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ejhg.2013.210","pdf_url":"https://www.nature.com/articles/ejhg2013210.pdf","source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1976550985.pdf","grobid_xml":"https://content.openalex.org/works/W1976550985.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1563557384","https://openalex.org/W1993542347","https://openalex.org/W2029236961","https://openalex.org/W2042225454","https://openalex.org/W2054248890","https://openalex.org/W2059145105","https://openalex.org/W2062731252","https://openalex.org/W2066683350","https://openalex.org/W2076360856","https://openalex.org/W2088854697","https://openalex.org/W2096201017","https://openalex.org/W2097649748","https://openalex.org/W2122863289","https://openalex.org/W2129364047","https://openalex.org/W2150459172","https://openalex.org/W2163627612","https://openalex.org/W2164045406"],"related_works":["https://openalex.org/W2415567201","https://openalex.org/W1625643035","https://openalex.org/W2149494129","https://openalex.org/W2103579643","https://openalex.org/W1990797724","https://openalex.org/W7096063384","https://openalex.org/W7098215640","https://openalex.org/W2109565787","https://openalex.org/W259774344","https://openalex.org/W1994636034"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
