Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mandy H Y TsangAnnie Ting Gee ChiuBernard M H KwongRui LiangMullin Ho-Chung YuKit-San YeungWetor H L HoChristopher Chun Yu MakGordon K C LeungSteven L C PeiJasmine L F FungVirginia C N WongFrancesco MuntoniBrian Hon-Yin ChungSophelia Hoi Shan ChanPublished in: Molecular genetics & genomic medicine (2020)
Our study shows a clear role of WES in the pathway of integrated diagnostic approach to shorten the diagnostic odyssey in patients with rare NMDs.