Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices - Huang, Yufeng; Deng, Wenyue; Huang, Hui; Zhang, Xiankai; Chen, Xiaohong; Ye, Jian; Luo, Sukun; Yu, Ting; Yao, Hui; Du, Hao; He, Xuelian (Frontiers in Genetics, 2025)