Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
结构变异在显性视网膜色素变性中产生新的拓扑关联域和异位视网膜增强子-基因接触
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.09.002
de Bruijn, Suzanne E; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uirá S; Corral-Serrano, Julio C; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F Lucy; Corominas, Jordi; Smith, Claire E L; Kremer, Hannie; Downes, Susan; Black, Graeme C; Webster, Andrew R; Inglehearn, Chris F; van den Born, L Ingeborgh; Koenekoop, Robert K; Michaelides, Michel; Ramesar, Raj S; Hoyng, Carel B; Mundlos, Stefan; Mhlanga, Musa M; Cremers, Frans P M; Cheetham, Michael E; Roosing, Susanne; Hardcastle, Alison J