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- [21] Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2018, 48 (06): : 808 - 809Liu, LvQin, JieliLuo, Hong
- [22] Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusJournal of Human Genetics, 2019, 64 : 829 - 829Weizhi ZhangDongping LiShijie WeiTing GuoJian WangHong LuoYifeng YangZhiping Tan
- [23] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusJournal of Human Genetics, 2019, 64 : 249 - 252Weizhi ZhangDongping LiShijie WeiTing GuoJian WangHong LuoYifeng YangZhiping Tan
- [24] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusJOURNAL OF HUMAN GENETICS, 2019, 64 (03) : 249 - 255Zhang, WeizhiLi, DongpingWei, ShijieGuo, TingWang, JianLuo, HongYang, YifengTan, Zhiping
- [25] WHOLE-EXOME SEQUENCING IDENTIFIES NOVEL HETEROZYGOUS MUTATION IN RAF1 IN FAMILY WITH CRYPTORCHIDISM AND NEONATAL TESTICULAR TORSION.FERTILITY AND STERILITY, 2017, 108 (03) : E315 - E315Kohn, T. P.Lopategui, D. M.Griswold, A. J.Ramasamy, R.
- [26] A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia A case reportMEDICINE, 2019, 98 (22)Xi, YarningWang, LinaZiang, PengpengJia, MingfengLi, Zijian
- [27] Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese familyBMC MEDICAL GENETICS, 2019, 20Shen, NaWang, TingLi, DeleiLiu, AiguoLu, Yanjun
- [28] Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε-1 gene in a family with steroid resistant inherited nephrotic syndromeMOLECULAR MEDICINE REPORTS, 2018, 18 (06) : 5095 - 5100Hashmi, Jamil AmjadSafar, Ramziah AhmedAfzal, SibtainAlbalawi, Alia M.Abdu-Samad, FerozIqbal, ZafarBasit, Sulman
- [29] Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case reportBMC PEDIATRICS, 2024, 24 (01)Hu, MingChen, ShuangWu, JinyuanWang, Rong
- [30] A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertilityMOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (08):Mao, BinJia, XuelingLiu, HongfangXu, XiaojuanZhao, XiaodongYuan, YueLi, HongxingMa, XiaolingZhang, Lili