{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T19:56:19Z","timestamp":1772826979233,"version":"3.50.1"},"reference-count":14,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,25]],"date-time":"2024-08-25T00:00:00Z","timestamp":1724544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"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\/100000066","name":"NIEHS","doi-asserted-by":"publisher","award":["ES065078"],"award-info":[{"award-number":["ES065078"]}],"id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.ejmg.2024.104968","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T01:36:14Z","timestamp":1724808974000},"page":"104968","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy"],"prefix":"10.1016","volume":"71","author":[{"given":"Nan","family":"Jiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenyuan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aliaa","family":"Abdelhakim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasiya","family":"Matveyenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Szabolcs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William C.","family":"Copeland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Disco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Iglesias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa M.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Naini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2834-0843","authenticated-orcid":false,"given":"Mythily","family":"Ganapathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5241","key":"10.1016\/j.ejmg.2024.104968_bib1","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1126\/science.270.5241.1506","article-title":"Coactivator and promoter-selective properties of RNA polymerase I TAFs","volume":"270","author":"Beckmann","year":"1995","journal-title":"Science (New York, N.Y.)"},{"issue":"8","key":"10.1016\/j.ejmg.2024.104968_bib2","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.3390\/jcm11082094","article-title":"Genetic insights into primary restrictive cardiomyopathy","volume":"11","author":"Brodehl","year":"2022","journal-title":"J. Clin. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2024.104968_bib3","doi-asserted-by":"crossref","first-page":"918","DOI":"10.3390\/genes10110918","article-title":"Restrictive cardiomyopathy is caused by a novel homozygous desmin (DES) mutation p.Y122H leading to a severe filament assembly defect","volume":"10","author":"Brodehl","year":"2019","journal-title":"Genes"},{"issue":"2","key":"10.1016\/j.ejmg.2024.104968_bib4","doi-asserted-by":"crossref","first-page":"558","DOI":"10.3390\/ijms22020558","article-title":"Genetic restrictive cardiomyopathy: causes and consequences\u2014an integrative approach","volume":"22","author":"Cimiotti","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"25","key":"10.1016\/j.ejmg.2024.104968_bib5","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.1016\/j.jacc.2016.04.024","article-title":"Idiopathic restrictive cardiomyopathy is primarily a genetic disease","volume":"67","author":"Gallego-Delgado","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"issue":"1","key":"10.1016\/j.ejmg.2024.104968_bib6","doi-asserted-by":"crossref","first-page":"9358","DOI":"10.1038\/s41598-022-13026-2","article-title":"Clinical exome sequencing for inherited retinal degenerations at a tertiary care center","volume":"12","author":"Ganapathi","year":"2022","journal-title":"Sci. Rep."},{"issue":"5","key":"10.1016\/j.ejmg.2024.104968_bib7","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.cardfail.2018.03.004","article-title":"Genetic evaluation of cardiomyopathy-A heart failure society of America practice guideline","volume":"24","author":"Hershberger","year":"2018","journal-title":"J. Card. Fail."},{"issue":"9","key":"10.1016\/j.ejmg.2024.104968_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0163362","article-title":"Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing","volume":"11","author":"Kostareva","year":"2016","journal-title":"PLoS One"},{"issue":"15","key":"10.1016\/j.ejmg.2024.104968_bib9","doi-asserted-by":"crossref","first-page":"2874","DOI":"10.1093\/hmg\/ddx169","article-title":"Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy","volume":"26","author":"Long","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2024.104968_bib10","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s12881-019-0793-z","article-title":"A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)","volume":"20","author":"Pantou","year":"2019","journal-title":"BMC Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2024.104968_bib11","article-title":"Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report","volume":"7","author":"Ter","year":"2023","journal-title":"European Heart Journal. Case Reports"},{"issue":"2","key":"10.1016\/j.ejmg.2024.104968_bib12","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2021.12.006","article-title":"The genetic architecture of pediatric cardiomyopathy","volume":"109","author":"Ware","year":"2022","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2024.104968_bib13","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1161\/CIRCULATIONAHA.112.104638","article-title":"Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the pediatric cardiomyopathy registry","volume":"126","author":"Webber","year":"2012","journal-title":"Circulation"},{"issue":"5193","key":"10.1016\/j.ejmg.2024.104968_bib14","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1126\/science.7801130","article-title":"Assembly of transcriptionally active RNA polymerase I initiation factor SL1 from recombinant subunits","volume":"266","author":"Zomerdijk","year":"1994","journal-title":"Science (New York, N.Y.)"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000600?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721224000600?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T07:59:38Z","timestamp":1726473578000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721224000600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":14,"alternative-id":["S1769721224000600"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104968","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2024.104968","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104968"}}