Chen, Pin-ShiuanPin-ShiuanChenCHI-CHAO CHAOLI-KAI TSAIHuang, Hsin-YiHsin-YiHuangYIN-HSIU CHIENPEI-HSIN HUANGWUH-LIANG ​​HWUSUNG-TSANG HSIEHNI-CHUNG LEECHIH-CHAO YANGHSUEH-WEN HSUEH2023-10-242023-10-24202322143599https://scholars.lib.ntu.edu.tw/handle/123456789/636447Whole-exome sequencing (WES) facilitates the diagnosis of hereditary neuromuscular disorders. To achieve an accurate diagnosis, physicians should interpret the genetic report carefully along with clinical information and examinations. We described our experience with (1) clinical validation in patients with variants found using WES and (2) a diagnostic approach for those with negative findings from WES.enWhole-exome sequencing; motor neuron disease; myopathy; neuromuscular disorders; neuropathy[SDGs]SDG3journal article10.3233/JND-230013370669202-s2.0-85164253255https://api.elsevier.com/content/abstract/scopus_id/85164253255