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 aGNEhomozygous 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