{"id":"https://openalex.org/W4309482149","doi":"https://doi.org/10.1016/j.jid.2022.09.316","title":"304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation","display_name":"304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation","publication_year":2022,"publication_date":"2022-11-18","ids":{"openalex":"https://openalex.org/W4309482149","doi":"https://doi.org/10.1016/j.jid.2022.09.316"},"language":"en","primary_location":{"id":"doi:10.1016/j.jid.2022.09.316","doi":"https://doi.org/10.1016/j.jid.2022.09.316","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2022.09.316","pdf_url":"http://www.jidonline.org/article/S0022202X22022503/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","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":"Journal of Investigative Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jidonline.org/article/S0022202X22022503/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062604323","display_name":"Emily Mira Warshauer","orcid":"https://orcid.org/0000-0002-4055-5196","observed_orcids":["https://orcid.org/0000-0002-4055-5196"]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E.M. Warshauer","raw_affiliation_strings":["Charles C. Gates Center for Regenerative Medicine, University of Colorado School of Medicine, Denver, CO"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Charles C. Gates Center for Regenerative Medicine, University of Colorado School of Medicine, Denver, CO","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071374232","display_name":"Paul Andrew Maier","orcid":"https://orcid.org/0000-0003-0851-8827","observed_orcids":["https://orcid.org/0000-0003-0851-8827"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P. Maier","raw_affiliation_strings":["Gene by Gene, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene by Gene, Houston, TX","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089082907","display_name":"I. Fuentes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133599470","display_name":"Universidad del Desarrollo","ror":"https://ror.org/05y33vv83","country_code":"CL","type":"education","lineage":["https://openalex.org/I133599470"]},{"id":"https://openalex.org/I2801797538","display_name":"Cl\u00ednica Alemana","ror":"https://ror.org/028ynny55","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I2801797538"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"I. Fuentes","raw_affiliation_strings":["Centro de Gen\u00e9tica y Genomica, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago, Chile"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Gen\u00e9tica y Genomica, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago, Chile","institution_ids":["https://openalex.org/I133599470","https://openalex.org/I2801797538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084718160","display_name":"G\u00f6ran Runfeldt","orcid":"https://orcid.org/0000-0002-1313-3123","observed_orcids":["https://orcid.org/0000-0002-1313-3123"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G. Runfeldt","raw_affiliation_strings":["Gene by Gene, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene by Gene, Houston, TX","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066296080","display_name":"Maria Jose Escamez","orcid":"https://orcid.org/0000-0002-5434-1885","observed_orcids":["https://orcid.org/0000-0002-5434-1885"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210165411","display_name":"Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas","ror":"https://ror.org/05xx77y52","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210165411"]},{"id":"https://openalex.org/I50357001","display_name":"Universidad Carlos III de Madrid","ror":"https://ror.org/03ths8210","country_code":"ES","type":"education","lineage":["https://openalex.org/I50357001"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. Esc\u00e1mez","raw_affiliation_strings":["Departamento de Bioingenier\u00eda e Ingenier\u00eda Aeroespacial (UC3M), Divisi\u00f3n de Biomedicina Epitelial, Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas (CIEMAT), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII (CIBERER-ISCIII) - IIS-FJD, Universidad Carlos III de Madrid, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Bioingenier\u00eda e Ingenier\u00eda Aeroespacial (UC3M), Divisi\u00f3n de Biomedicina Epitelial, Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas (CIEMAT), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII (CIBERER-ISCIII) - IIS-FJD, Universidad Carlos III de Madrid, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366","https://openalex.org/I4210165411","https://openalex.org/I50357001"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018717985","display_name":"L. Valinotto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24354313","display_name":"Universidad de Buenos Aires","ror":"https://ror.org/0081fs513","country_code":"AR","type":"education","lineage":["https://openalex.org/I24354313"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"L. Valinotto","raw_affiliation_strings":["Center for research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA), Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA), Buenos Aires, Argentina","institution_ids":["https://openalex.org/I24354313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031717635","display_name":"A. Brown","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Brown","raw_affiliation_strings":["Avotaynu Research Partnership LLC, Englewood, NJ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Avotaynu Research Partnership LLC, Englewood, NJ","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000545539","display_name":"Francis Palisson E","orcid":"https://orcid.org/0000-0001-9196-841X","observed_orcids":["https://orcid.org/0000-0001-9196-841X"]},"institutions":[{"id":"https://openalex.org/I133599470","display_name":"Universidad del Desarrollo","ror":"https://ror.org/05y33vv83","country_code":"CL","type":"education","lineage":["https://openalex.org/I133599470"]},{"id":"https://openalex.org/I2801797538","display_name":"Cl\u00ednica Alemana","ror":"https://ror.org/028ynny55","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I2801797538"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"F. Palisson","raw_affiliation_strings":["Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago, Chile"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago, Chile","institution_ids":["https://openalex.org/I133599470","https://openalex.org/I2801797538"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015690708","display_name":"Alain Hovnanian","orcid":"https://orcid.org/0000-0003-3412-7512","observed_orcids":["https://orcid.org/0000-0003-3412-7512"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Hovnanian","raw_affiliation_strings":["Department of Genetics, Necker-Enfants Malades (AP-HP), University of Paris, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Necker-Enfants Malades (AP-HP), University of Paris, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I204730241","https://openalex.org/I4210097159"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019522840","display_name":"D. Roop","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Roop","raw_affiliation_strings":["Charles C. Gates Center for Regenerative Medicine, University of Colorado School of Medicine, Denver, CO"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Charles C. Gates Center for Regenerative Medicine, University of Colorado School of Medicine, Denver, CO","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":12,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3400,"currency":"USD","value_usd":3400},"apc_paid":null,"fwci":0.0964,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.26071026,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"142","issue":"12","first_page":"S232","last_page":"S232"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11650","display_name":"Skin and Cellular Biology Research","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T12355","display_name":"Genetic and rare skin diseases.","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11167","display_name":"Hair Growth and Disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/recessive-dystrophic-epidermolysis-bullosa","display_name":"recessive dystrophic epidermolysis bullosa","score":0.9990000128746033},{"id":"https://openalex.org/keywords/col7a1","display_name":"COL7A1","score":0.9340000152587891},{"id":"https://openalex.org/keywords/type-vii-collagen","display_name":"type VII collagen","score":0.972000002861023},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.9449999928474426},{"id":"https://openalex.org/keywords/genetic-ancestry","display_name":"genetic ancestry","score":0.7599999904632568}],"concepts":[{"id":"https://openalex.org/C2778405274","wikidata":"https://www.wikidata.org/wiki/Q3124960","display_name":"Epidermolysis bullosa simplex","level":3,"score":0.9740631580352783},{"id":"https://openalex.org/C2776666470","wikidata":"https://www.wikidata.org/wiki/Q3392203","display_name":"Plectin","level":5,"score":0.926875114440918},{"id":"https://openalex.org/C2781207856","wikidata":"https://www.wikidata.org/wiki/Q923020","display_name":"Epidermolysis bullosa","level":2,"score":0.8793084025382996},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5957328081130981},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.521978497505188},{"id":"https://openalex.org/C2777304866","wikidata":"https://www.wikidata.org/wiki/Q1323713","display_name":"Ectodermal dysplasia","level":2,"score":0.4967542290687561},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4884173274040222},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.45170700550079346},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4192752242088318},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3853425979614258},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35575634241104126},{"id":"https://openalex.org/C78383274","wikidata":"https://www.wikidata.org/wiki/Q421987","display_name":"Intermediate filament","level":4,"score":0.3081066906452179},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22355860471725464},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.09525883197784424},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.0},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jid.2022.09.316","doi":"https://doi.org/10.1016/j.jid.2022.09.316","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2022.09.316","pdf_url":"http://www.jidonline.org/article/S0022202X22022503/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","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":"Journal of Investigative Dermatology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jid.2022.09.316","doi":"https://doi.org/10.1016/j.jid.2022.09.316","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2022.09.316","pdf_url":"http://www.jidonline.org/article/S0022202X22022503/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","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":"Journal of Investigative Dermatology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4309482149.pdf","grobid_xml":"https://content.openalex.org/works/W4309482149.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4366190827","https://openalex.org/W1899389934","https://openalex.org/W2054569402","https://openalex.org/W4414491024","https://openalex.org/W7097366663","https://openalex.org/W3193816718","https://openalex.org/W1966829529","https://openalex.org/W2793547952","https://openalex.org/W2173126981","https://openalex.org/W4415660886"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2022-11-28T00:00:00"}
