{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T13:53:51Z","timestamp":1752674031987,"version":"3.40.4"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Feiga Bresver Academic Foundation"},{"DOI":"10.13039\/100019097","name":"Paul","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019097","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,28]]},"abstract":"<jats:p>Using genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large proportion of patients with IP do not have a molecular diagnosis, and new variants remain to be identified. Emerging technologies, such as long-read sequencing, hold promise for further advancing the molecular diagnosis of IP.<\/jats:p>","DOI":"10.1093\/bjd\/ljae462","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T18:49:47Z","timestamp":1732387787000},"page":"933-935","source":"Crossref","is-referenced-by-count":1,"title":["Genome sequencing reveals novel <i>IKBKG<\/i> structural variants associated with incontinentia pigmenti"],"prefix":"10.1093","volume":"192","author":[{"given":"Neta","family":"Pipko","sequence":"first","affiliation":[{"name":"Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel Youjin","family":"Oh","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiyana","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Shugar","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9140-6193","authenticated-orcid":false,"given":"Anna","family":"Szuto","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Division of Dermatology, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza-Londono","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Pope","sequence":"additional","affiliation":[{"name":"Division of Dermatology, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ted","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Genome Diagnostics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian R","family":"Marshall","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning , Toronto, ON ,","place":["Canada"]},{"name":"Division of Genome Diagnostics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-9945","authenticated-orcid":false,"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning , Toronto, ON ,","place":["Canada"]},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Lara-Corrales","sequence":"additional","affiliation":[{"name":"Division of Dermatology, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiming","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning , Toronto, ON ,","place":["Canada"]},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON ,","place":["Canada"]},{"name":"Department of Paediatrics, University of Toronto , Toronto, ON ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,11,23]]},"reference":[{"key":"2025042813571992600_ljae462-B1","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1016\/j.jaad.2019.01.093","article-title":"Unraveling incontinentia pigmenti: a comparison of phenotype and genotype variants","volume":"81","author":"Wang","year":"2019","journal-title":"J Am Acad Dermatol"},{"key":"2025042813571992600_ljae462-B2","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/cge.12223","article-title":"Incontinentia pigmenti diagnostic criteria update","volume":"85","author":"Mini\u0107","year":"2014","journal-title":"Clin Genet"},{"key":"2025042813571992600_ljae462-B3","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1093\/hmg\/10.19.2171","article-title":"A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations","volume":"10","author":"Aradhya","year":"2001","journal-title":"Hum Mol Genet"},{"key":"2025042813571992600_ljae462-B4","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1111\/jdv.16403","article-title":"Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti","volume":"34","author":"Bodemer","year":"2020","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025042813571992600_ljae462-B5","doi-asserted-by":"crossref","first-page":"E1626-9","DOI":"10.1503\/cmaj.210549","article-title":"Genome sequencing as a diagnostic test","volume":"193","author":"Costain","year":"2021","journal-title":"CMAJ"},{"key":"2025042813571992600_ljae462-B6","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/s41436-019-0655-2","article-title":"Adapting ACMG\/AMP sequence variant classification guidelines for single-gene copy number variants","volume":"22","author":"Brandt","year":"2020","journal-title":"Genet Med"},{"key":"2025042813571992600_ljae462-B7","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/hmg\/ddr556","article-title":"Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms","volume":"21","author":"Fusco","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2025042813571992600_ljae462-B8","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/humu.20739","article-title":"Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations","volume":"29","author":"Fusco","year":"2008","journal-title":"Hum Mutat"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article-pdf\/doi\/10.1093\/bjd\/ljae462\/60799698\/ljae462.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/192\/5\/933\/60799698\/ljae462.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/192\/5\/933\/60799698\/ljae462.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T17:57:24Z","timestamp":1745863044000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/192\/5\/933\/7907809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,23]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,11,23]]},"published-print":{"date-parts":[[2025,4,28]]}},"URL":"https:\/\/doi.org\/10.1093\/bjd\/ljae462","relation":{},"ISSN":["0007-0963","1365-2133"],"issn-type":[{"type":"print","value":"0007-0963"},{"type":"electronic","value":"1365-2133"}],"subject":[],"published-other":{"date-parts":[[2025,5]]},"published":{"date-parts":[[2024,11,23]]}}}