{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:58:23Z","timestamp":1790621903603,"version":"4.1.0"},"reference-count":13,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["AR067507"],"award-info":[{"award-number":["AR067507"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011960","name":"DEBRA International","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011960","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["jidsponline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology Symposium Proceedings"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.jisp.2018.09.004","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T19:46:58Z","timestamp":1542829618000},"page":"S74-S76","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Precision Medicine for Heritable Skin Diseases\u2014The Paradigm of Epidermolysis Bullosa"],"prefix":"10.1016","volume":"19","author":[{"given":"Jouni","family":"Uitto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velina S.","family":"Atanasova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiujie","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P.","family":"South","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jisp.2018.09.004_bib1","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1016\/j.jid.2017.05.011","article-title":"Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: Potential therapy for recessive dystrophic epidermolysis bullosa","volume":"137","author":"Atanasova","year":"2017","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jisp.2018.09.004_bib2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0625.1996.tb00086.x","article-title":"Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa","volume":"5","author":"Christiano","year":"1996","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.jisp.2018.09.004_bib3","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1038\/mt.2014.140","article-title":"Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa","volume":"22","author":"Cogan","year":"2014","journal-title":"Mol Ther"},{"key":"10.1016\/j.jisp.2018.09.004_bib4","doi-asserted-by":"crossref","first-page":"S77","DOI":"10.1016\/j.jisp.2018.09.005","article-title":"Expanded genome-wide association study meta-analysis of psoriasis expands the catalog of common psoriasis-associated variants","volume":"19","author":"Elder","year":"2018","journal-title":"J\u00a0Invest Dermatol Symp Proc"},{"key":"10.1016\/j.jisp.2018.09.004_bib5","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: updated recommendations on\u00a0diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"J\u00a0Am Acad Dermatol"},{"key":"10.1016\/j.jisp.2018.09.004_bib6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2013.09.006","article-title":"The next-generation sequencing revolution and its impact on genomics","volume":"155","author":"Koboldt","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.jisp.2018.09.004_bib7","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1038\/JID.2015.402","article-title":"Functional interpretation of genome-wide association study evidence in alopecia areata","volume":"136","author":"Petukhova","year":"2016","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jisp.2018.09.004_bib8","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/pd.619","article-title":"Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk","volume":"23","author":"Pfendner","year":"2003","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jisp.2018.09.004_bib9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1479-7364-4-2-69","article-title":"The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics","volume":"4","author":"Stenson","year":"2009","journal-title":"Hum Genomics"},{"key":"10.1016\/j.jisp.2018.09.004_bib10","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.cell.2014.02.012","article-title":"Individualized medicine from prewomb to tomb","volume":"157","author":"Topol","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.jisp.2018.09.004_bib13","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.matbio.2013.07.004","article-title":"Heritable disorders of connective tissue: introduction to mini-review cluster","volume":"33","author":"Uitto","year":"2014","journal-title":"Matrix Biol"},{"key":"10.1016\/j.jisp.2018.09.004_bib11","doi-asserted-by":"crossref","first-page":"228","DOI":"10.2340\/00015555-0648","article-title":"Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies","volume":"89","author":"Uitto","year":"2009","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jisp.2018.09.004_bib12","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.jid.2015.10.050","article-title":"Progress towards treatment and cure of epidermolysis bullosa: summary of the DEBRA International Research Symposium EB2015","volume":"136","author":"Uitto","year":"2016","journal-title":"J\u00a0Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology Symposium Proceedings"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1087002418300042?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1087002418300042?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T15:13:09Z","timestamp":1575299589000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1087002418300042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S1087002418300042"],"URL":"https:\/\/doi.org\/10.1016\/j.jisp.2018.09.004","relation":{},"ISSN":["1087-0024"],"issn-type":[{"value":"1087-0024","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Precision Medicine for Heritable Skin Diseases\u2014The Paradigm of Epidermolysis Bullosa","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology Symposium Proceedings","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jisp.2018.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}