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- [32] Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic NeuropathiesJournal of Molecular Neuroscience, 2019, 68 : 640 - 646Xiao-Huan ZouXin-Xin GuoHui-Zhen SuChong WangEn-Lin DongNing WangWan-Jin ChenQi-Jie Zhang
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- [34] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus (vol 64, pg 249, 2019)JOURNAL OF HUMAN GENETICS, 2019, 64 (08) : 829 - 829Zhang, WeizhiLi, DongpingWei, ShijieGuo, TingWang, JianLuo, HongYang, YifengTan, Zhiping
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- [36] Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic NeuropathiesJournal of Molecular Neuroscience, 2020, 70 : 631 - 631Xiao-Huan ZouXin-Xin GuoHui-Zhen SuChong WangEn-Lin DongNing WangWan-Jin ChenQi-Jie Zhang
- [37] Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic NeuropathiesJOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 68 (04) : 640 - 646Zou, Xiao-HuanGuo, Xin-XinSu, Hui-ZhenWang, ChongDong, En-LinWang, NingChen, Wan-JinZhang, Qi-Jie
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- [39] Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary DyskinesiaFRONTIERS IN GENETICS, 2022, 13Liu, YingLei, ChengWang, RongchunYang, DanhuiYang, BinyiXu, YingjieLu, ChenyangWang, LinDing, ShuiziGuo, TingLiu, ShaokunLuo, Hong
- [40] Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing lossBMC MEDICAL GENOMICS, 2021, 14 (01)Yang, GuangxianYin, YiTan, ZhipingLiu, JianDeng, XichengYang, Yifeng