TCF4变体导致的皮特-霍普金斯综合征的DNA甲基化表征和表观基因组比较分析。

{"title":"TCF4变体导致的皮特-霍普金斯综合征的DNA甲基化表征和表观基因组比较分析。","authors":"Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, R. Relator, M. Levy, S. Trajkova, Sylvia A Huisman, E. Bijlsma, T. Kleefstra, B. V. van Bon, Özlem Baysal, Christiane Zweier, M. Palomares-Bralo, Jan Fischer, K. Szakszon, Laurence Faivre, Amélie Piton, S. Mesman, Ron Hochstenbach, M. Elting, J. M. van Hagen, Astrid S Plomp, M. Mannens, Marielle Alders, M. M. van Haelst, G. B. Ferrero, Alfredo Brusco, P. Henneman, D. Sweetser, B. Sadikovic, A. Vitobello, L. Menke","doi":"10.1016/j.xhgg.2024.100289","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":34530,"journal":{"name":"HGG Advances","volume":null,"pages":null},"PeriodicalIF":3.3000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.\",\"authors\":\"Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, R. Relator, M. Levy, S. Trajkova, Sylvia A Huisman, E. Bijlsma, T. Kleefstra, B. V. van Bon, Özlem Baysal, Christiane Zweier, M. Palomares-Bralo, Jan Fischer, K. Szakszon, Laurence Faivre, Amélie Piton, S. Mesman, Ron Hochstenbach, M. Elting, J. M. van Hagen, Astrid S Plomp, M. Mannens, Marielle Alders, M. M. van Haelst, G. B. Ferrero, Alfredo Brusco, P. Henneman, D. Sweetser, B. Sadikovic, A. Vitobello, L. Menke\",\"doi\":\"10.1016/j.xhgg.2024.100289\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":34530,\"journal\":{\"name\":\"HGG Advances\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"HGG Advances\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.xhgg.2024.100289\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"HGG Advances","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xhgg.2024.100289","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}