Selected Publications
1. Xiang Yang Zhang, Jingming Wen, Wei Yang, Cheng Wang, Luna Gao, Lianghong Zheng, Tao Wang, Kaikai Ran, Yulei Li, Xiangyang Li, Ming Xu, Junyu Luo, Shenglei Feng, Xixiang Ma, Hongying Ma, Zuying Chai, Zhuan Zhou, Yao J(*), Xue Zhang, Jing Yu Liu*. Gain-of-function mutations in SCN11A cause familial episodic pain, Am J Hum Genet, 2013, 93(5): 957-966.
2. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, Oliveira JRM, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang X, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY*. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature Genetics, 2012, 44(3):254-256.
3. Feng A, Dai X, Wang X, Gao Y, Luo R, Li Y, Zhang N, Liu JY*. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly. J Huazhong Univ Sci Technol [Med Sci] 2011, 31(4):570-577.
4. Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY*. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta. Journal of Genetics and Genomics 2011, 38(4):149-156.
5. Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo XP, Liu M, Wang QK, Liu JY*. Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. Molecular Genetics and Metabolism. 2011, 102:107-109.
6. Dai X, Gao Y, Xu Z, Cui X, Liu J, Li Y, Xu H, Liu M, Wang QK, Liu JY*. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet Part B 2010, 153B:1305–1310.
7. Wang Q, Diao Y, Xu Z, Li X, Luo XP, Xu H, Ouyang P, Liu M, Hu Z, Wang QK, Liu JY*. Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism. Molecular and Cellular Endocrinology, 2009, 313: 50-56.
8. Liu JZ, Yang T, Li X, Liu M, Wang QK, Liu JY*. A novel mutation in the ATP2C1 gene is associated with HHD in a Chinese family. International Journal of Dermatology,2009, 48:47-51.
9. Dai XH, Chen WW, Wang X, Zhu QH, Li C, Li Li, Liu MG, Wang QK, Liu JY*. A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. Hum Genet, 2008, 124:423–429.
10. Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuang M, Liu M, Liu JY*, Wang QK. Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2. J Invest Dermatol. 2008, 128(6):1418-22.
11. Liu JY, Dai X, Sheng J, Cui X, Wang X, Jiang X, Tu X, Tang Z, Bai Y, Liu M, Wang QK. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31. Biochem Biophys Res Commun. 2008，7;367(2):420-6.
12. Ren X#, Liu JY#, Zhai LY, Yao Q, Dai X, Cai Z, Liu P, Sun K, Huang C, Wang QK, Liu M. A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. Brit J Dermatol. 2008,158:618-620. (并列第一)
13. Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 2007, 52(6):565-570.
14. Liu JY, She CW, Hu ZL, Diao Y, Li F, Liu LH, Song YC. Visualization and characterization of high-order chromatin fibers under light microscope during interphase and mitotic stages in plants. J Integr Plant Biol, 2007,49(11):1634-1639.
15. Zhang SR, Zhou XQ, Ren X, Wang TT, Yuan MX, Wang Q, Liu JY*, Liu MG. Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia. CHINESE MED J-PEKING. 2007, 120(11):1017-9.
16. Liu JY, Ji M, Wang X, Ren X, Liu M, Wang QK. Detection of human chromosomal abnormalities using a new technique combining DAPI staining and image analysis. Clinical Genetics 2006, 69(1):65-71.
17. Diao Y, Chen L, Yang G, Zhou M, Song Y, Hu Z, Liu JY*. Nuclear DNA C-values in 12 Species in Nymphaeales. Caryologia,2006,59(1):25-30.
18. Liu JY, She CW, Hu ZL, Xiong ZY, Liu LH, Song YC. A new chromosome fluorescence banding technique combining DAPI staining with image analysis in plants. Chromosoma. 2004,113(1):16-21.
19. Liu JY, Wang XR, Zeng XL, Zhang CS, Hao S, Song YC. Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage. Cytogenet Genome Res. 2003(1-2):8-13.
20. Xiaohua Dai, Guangxu Yang, Yunchun Song, Jingyu Liu*. The mouse chromosome karyotype combining fluorochromes staining with image analysis. J Wuhan Univ (English ed). 2006, 11(2):441-446 (EI).
21. Wang X, Wang XR, Liu MG, Wang Q, Liu JY*. Genetic analysis of a family with 46, XY “Female” associated with infertility. Acta GeneticaSinica, 2006, 33(1):19-25.
22. Wang QL, Guo S, Duan G, Ying Y, Huang P, Liu JY, Zhang X.Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. Pediatr Neurol. 2016 Apr 20. pii: S0887-8994(16)30084-4. doi: 10.1016/j.pediatrneurol.2016.04.006
23. Xianqin Zhang, Dusan Bogunovic, Be´ atrice Payelle-Brogard, Ve´ ronique Francois-Newton, Scott D. Speer, Chao Yuan, Stefano Volpi, ncois-Newton, Scott D. Speer, Chao Yuan,Stefano Volpi, Zhi Li, Ozden Sanal, Davood Mansouri, Ilhan Tezcan, Gillian I. Rice, Chunyuan Chen, Nahal Mansouri, Seyed Alireza Mahdaviani, Yuval Itan, Bertrand Boisson, Satoshi Okada, Lu Zeng, Xing Wang, Hui Jiang, Wenqiang Liu, Tiantian Han, Delin Liu, Tao Ma, Bo Wang, Mugen Liu, Jing-Yu Liu, Qing K. Wang, Dilek Yalnizoglu, Lilliana Radoshevich, Gilles Uze´, Philippe Gros, Flore Rozenberg, Shen-Ying Zhang, Emmanuelle Jouanguy, Jacinta Bustamante, Adolfo Garcı´a-Sastre, Laurent Abel,Pierre Lebon, Luigi D. Notarangelo, Yanick J. Crow, Ste´ phanie Boisson-Dupuis, Jean-Laurent Casanova, Sandra Pellegrini. Human intracellular ISG15 prevents interferon-α/βover-amplification and auto-inflammation, Nature, 2015, 517: 89-93
24. Fei Liu, Yinghao Huang, Luying Liu,Bo Liang, Zhen Qu, Gang Huang, Chang Li, Ronghua Tian, Zhuhui Jiang, Fucan Liu, Xiaoyan Yu, Yingjie Huang, Jingyu Liu, Zhaohui Tang. Identification of a novel NOG mutation in a Chinese family with proximal symphalangism, Clin Chim Acta, 2014, 429: 129-133.
25. Qiu Fen Wang, Fei Liu, Yue Xing, Xianjin Wei, Hui Li, Shirong Zhang, Jingyu Liu, Qing Wang, Zhaohui Tang, Mugen Liu. Mutation c.359_363delGTATTinsATAC in the COL4A5 causes alport syndrome in a Chinese family, Gene, 2013, 512(2): 482-485.
26. Jun-Ling Wang, Xiao Mao, Zheng-Mao Hu, Jia-Da Li, Nan Li, Ji-Feng Guo, Hong Jiang, Lu Shen, Jin Li, Yu-Ting Shi, Kun Xia, Jing-Yu Liu, Wei-Ping Liao, Bei-Sha Tang. Mutation analysis of PRRT2 in two Chinese BFIS families andnomenclature of PRRT2 related paroxysmal diseases, Neurosci Lett, 2013, 552: 40-45.
27. Ying Liu, Xiaoyan Yu, Lei Wang, Chang Li, Stephen Archacki, Changzheng Huang, Jing Yu Liu, Qing Wang, Mugen Liu, Zhaohui Tang (*). Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family. Gene, 2012, 491(2): 246-50.
28. Fan Wang, Cheng-Qi Xu, Qing He, Jian-Ping Cai, Xiu-Chun Li, Dan Wang, Xin Xiong,Yu-Hua Liao, Qiu-Tang Zeng, Yan-Zong Yang, Xiang Cheng, Cong Li, Rong Yang, Chu-Chu Wang,Gang Wu, Qiu-Lun Lu, Ying Bai, Yu-Feng Huang, Dan Yin, Qing Yang, Xiao-Jing Wang, Da-Peng Dai,Rong-Feng Zhang, Jing Wan, Jiang-Hua Ren, Si-Si Li, Yuan-Yuan Zhao, Fen-Fen Fu, Yuan Huang,Qing-Xian Li, Sheng-Wei Shi, Nan Lin, Zhen-Wei Pan, Yue Li, Bo Yu, Yan-Xia Wu, Yu-He Ke, Jian Lei,Nan Wang, Chun-Yan Luo, Li-Ying Ji, Lian-Jun Gao, Lei Li, Hui Liu, Er-Wen Huang, Jin Cui, Na Jia,Xiang Ren, Hui Li, Tie Ke, Xian-Qin Zhang, Jing-Yu Liu, Mu-Gen Liu, Hao Xia, Bo Yang, Li-Song Shi, Yun-Long Xia, Xin Tu, Qing K Wang. Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Nat Genet, 2011, 43(4): 345-9.
29. Xiukun Cui, Feng Zeng, Ying Liu, Jing Zhang, Stephen Archacki, Tailan Zhan, Rong Du, Zhaohui Tang, Jingyu Liu, Qing K. Wang, Mugen Liu. A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family, Neurosci Lett, 2011, 503(1): 27-30.
30. Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Molecular Vision 2010; 16:454-461.
31. Ren X, Xu C, Zhan C, Yang Q, Shi L, Wang F, Wang C, Xia Y, Yang B, Wu G, Wang P, li X, Wang D, Xiong X, Liu J, Liu M, Liu J, Tu X, Wang QK. Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. Clinica Chimica Acta 411 (2010) 481-485
32. Shi L, Li C, Wang C, Xia Y, Wu G, Wang F, Xu C, Wang P, Li X, Wang D, Xiong X, Bai Y, Liu M, Liu J, Ren X, Gao L, Wang B, Zeng Q, Yang B, Ma X, Yang Y, Tu X, Wang QK. Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population. Hum Genet (2009) 126:843–849
33. Liu P, Zhang S, Yao Q, Liu X, Wang X, Huang C, Huang X, Wang P, Yuan M, Liu JY, Wang QK, Liu M. Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet. 2008, 123(5):507-13.
34. Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu JY, Wang Q, Liu M. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. J Genet Genomics. 2008 Sep;35(9):553-8.
35. Zhang S, Yin K, Ren X, Wang P, Zhang S, Cheng L, Yang J, Liu JY, Liu M, Wang QK. Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. BMC Med Genet. 2008, 9:24.
36. Li H, Li C, Lu Q, Su T, Ke T, Li DW, Yuan M, Liu J, Ren X, Zhang Z, Zeng S, Wang QK, Liu M. Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells. Biochim Biophys Acta. 2008, 1782(5):303-9.
37. Zhang X#, Chen L#, Liu J, Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M. A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a chinese family. BMC Med Genet. 2007; 8: 52.
38. Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis, 2007, 30;13:1548-54.
39. Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Liu Q, Yang J, Liu JY, Wang QK. Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophth Vis Sci. 2006, 47(8):3461-3466
40. Wang X, Yang Q, Tang H, Zhu Q, Chang W, Liu JY, Wang QK Liu M. GDF5 Heterozygous Mutation Causes Autosomal Dominant Symphalangism-like Disorder in Two Chinese Families. Am J Med Genet PartA, 2006, 140A:1846–1853.
41. Liu M, Wang X, Cai Z, Tang Z, Liang B, Cao K, Liu JY, Wang QK. Novel IHH Heterozygous Mutation Causes Brachydactyly Type A1 in a Big Chinese Family. J Hum Genet, 2006, 51(8):727-731.
42. Huang C, Yang Q, Ke T, Wang H, Wang X, Shen J, Tu X, Tian J, Liu JY, Wang QK, Liu M. A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. J Hum Genet, 2006, 51: 1133–1137.
