1. Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa
   Qin Xiang et al, 2018, Optometry and Vision Science CrossRef
2. Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
   Yuan Wu et al, 2018, Journal of Cellular and Molecular Medicine CrossRef
3. A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus
   Shan Wu et al, 2019, Journal of Molecular Neuroscience CrossRef
4. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1
   Heng Xiao et al, 2018, Journal of Molecular Neuroscience CrossRef
5. Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly
   X. Chen et al, 2019, Current Molecular Medicine CrossRef