Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
通过多步骤高通量方法鉴定导致17型视网膜色素变性的新型3D基因组改变和复杂结构变异。
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1469686
de Bruijn, Suzanne E; Panneman, Daan M; Weisschuh, Nicole; Cadena, Elizabeth L; Boonen, Erica G M; Holtes, Lara K; Astuti, Galuh D N; Cremers, Frans P M; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D; Toulis, Vasileios; Chen, Di; Cheetham, Michael E; Hardcastle, Alison J; McLaren, Terri L; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; de Roach, John N; Urwin, Isabella R; Sullivan, Lori S; Roosing, Susanne
