1. Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2
   Jiao Wang et al, 2017, Molecular Medicine Reports CrossRef
2. Myelin abnormalities in merosin‐deficient congenital muscular dystrophy
   Yoshihiko Saito et al, 2024, Muscle & Nerve CrossRef
3. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
   Hairong Wang et al, 2019, BMC Medical Genetics CrossRef