{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:24:38Z","timestamp":1782879878942,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,2,19]],"date-time":"2018-02-19T00:00:00Z","timestamp":1518998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100002825","name":"Dystrophic Epidermolysis Bullosa Research Association of America","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002825","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome\u2010wide single nucleotide polymorphism (SNP) array\u2010based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB\u2010targeted next\u2010generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2\u00a0Mb, for a total yield of 44 of 46 cases (95.7%) diagnosed genetically.<\/jats:p>","DOI":"10.1111\/exd.13501","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T11:16:58Z","timestamp":1516792618000},"page":"1118-1121","source":"Crossref","is-referenced-by-count":19,"title":["Genome\u2010wide single nucleotide polymorphism\u2010based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa"],"prefix":"10.1111","volume":"28","author":[{"given":"Hassan","family":"Vahidnezhad","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia PA USA"},{"name":"Biotechnology Research Center Department of Molecular Medicine Pasteur Institute of Iran  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia PA USA"},{"name":"Department of Medical Genetics Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[{"name":"Biotechnology Research Center Department of Molecular Medicine Pasteur Institute of Iran  Tehran Iran"},{"name":"Kawsar Human Genetics Research Center  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Touati","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia PA USA"},{"name":"Drexel University College of Medicine  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Abiri","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center  Tehran Iran"},{"name":"Department of Medical Genetics and Molecular Biology School of Medicine Iran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Sotoudeh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children's Medical Center Center of Excellence Tehran University of Medical Sciences  Tehran 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University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidreza","family":"Mahmoudi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Razi Hospital Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Hamid","sequence":"additional","affiliation":[{"name":"Biotechnology Research Center Department of Molecular Medicine Pasteur Institute of Iran  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan P.","family":"Bradfield","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Abramson Pediatric Research Center The Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia E.","family":"Kim","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Abramson Pediatric Research Center The Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Abramson Pediatric Research Center The Children's Hospital of Philadelphia  Philadelphia PA USA"},{"name":"Department of Pediatrics Perelman School of Medicine University of Pennsylvania  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia PA 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