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  1. Article

    Open Access

    Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients

    SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...

    Juan **ong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He… in BMC Medical Genomics (2021)

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  2. Article

    Open Access

    First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

    Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ...

    Ciliu Zhang, **aolu Deng, Yafei Wen, Fang He, Fei Yin, **g Peng in BMC Medical Genetics (2020)

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