1.    Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation

反向诱导多能干细胞研构建疾病细胞系，为疾病发生及治疗做铺垫

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2.Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia

探讨 CPLANE1基因剪接变异位点对Joubert综合征患儿的影响

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3.The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

全外显子与CNV结合进行基因检测是更适用于智力障碍患儿的检测方案

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