Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
Zhiying XieChengyue SunYilin LiuMeng YuYiming ZhengLingchao MengGao WangDiana M Cornejo-SanchezThashi BharadwajJin YanLingxiang ZhangNicolas Pineda-TrujilloWei ZhangSuzanne M LealIsabelle SchrauwenZhaoxia WangYun YuanPublished in: Journal of medical genetics (2020)
Our study highlights the high diagnostic utility of implementing a SGTS pipeline in dystrophinopathies with intronic variants and complex SVs.