Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
新一代测序（NGS）作为视网膜变性的诊断工具，在早期发病疾病中显示出更高的检出率。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2012.172
Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl Az; Kwasniewska, Alexandra; Davies, Wayne Il; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew Om; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H
