Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
由多学科团队指导的全基因组测序分析揭示了分子诊断不明的遗传性视网膜营养不良中的致病性非编码变异
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddac227
Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E; Michaelides, Michel; Mahroo, Omar A; Moore, Anthony T; Webster, Andrew R; Arno, Gavin