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1.Cai X#, Li Y#, Xia L, Peng Y, He C, Jiang L, Feng Y, Xia K, Liu X*, Mei L* and Hu Z*(2017) Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. J Hum Genet, 62: 317–320
2.Li W, Li Y, Zhang L, Guo H, Tian D, Peng Y, Zheng Y, Dai Y, Xia K, Lan X*, Wang B* and Hu Z*(2016) AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. J Med Genet 53: 488-493
3.Peng H#, Xu X*, Zhang L, Zhang X, Zheng Y, Luo S, Guo H, Xia K, Li J, Yao H and Hu Z*(2016) GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing. Gene 575: 363-367
4.Guo H#, Tong P#, Liu Y#, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z*, Xia K* (2015) Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med 17:300-306
5.Yang Y#, Tian D#, Lee J, Zeng J, Zhang H, Chen S, Guo H, Xiong Z, Xia K, Hu Z*, Luo J* (2015) Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet 36:64-69
6.He F#, Wang X#, Cai X, Peng H, Zhang L, Zhu T, Xia K, Pan Q*, Hu Z* (2015) Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol 42:95-96
7.Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, Chen J, Wang T, Peng H, Liu Q, Tian D, Pan Q, Zou X, Zhao J, Hu Z*, Xia K*(2015) AMPD1 functional variants associated with autism in Han Chinese population. Eur Arch Psychiatry Clin Neurosci 265:511-517
8.Xia K# *, Guo H#, Hu Z#, Xun G, Zuo L, Peng Y, Wang K, He Y, Xiong Z, Sun L, Pan Q, Long Z, Zou X, Li X, Li W, Xu X, Lu L, Liu Y, Hu Y, Tian D, Long L, Ou J, Zhang L, Pan Y, Chen J, Peng H, Liu Q, Luo X, Su W, Wu L, Liang D, Dai H, Yan X, Feng Y, Tang B, Li J, Miedzybrodzka Z, Xia J, Zhang Z, Zhang X, St Clair D, Zhao J*, Zhang F*. (2014) Common genetic variants on 1p13.2 associate with risk of autism. Mol Psychiatry 19:1212-1219
9.Guo H#, Jin X#, Zhu T#, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z*, Xia K* (2014) SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia. J Med Genet 51:518-525
10.Zhang M#, Chen J#, Si D, Zheng Y, Jiao H, Feng Z, Hu Z*, Duan R* (2014) Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy. BMC Med Genet 15:77
11.Xu X#, Xiong Z#, Zhang L, Liu Y, Lu L, Peng Y, Guo H, Zhao J, Xia K*, Hu Z* (2014) Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Mol Biol Rep 41:4133-4140
12.Xiang X#, Wang T#, Tong P, Li Y, Guo H, Wan A, Xia L, Liu Y, Tian Q, Shen L, Cai X, Tian L, Jin X, Xia K*, Hu Z* (2014) New ZNF644 mutations identified in patients with high myopia. Mol Vis 20:939-946
13.Lu L, Guo H, Peng Y, Xun G, Liu Y, Xiong Z, Tian D, Li W, Xu X, Zhao J, Hu Z*, Xia K* (2014) Common and rare variants of the THBS1 gene associated with the risk for autism. Psychiatr Genet 24:235-240
14.Guo H#, Tong P#, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z*, Xia K* (2014) Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. Clin Genet 86:575-579
15.Xu X#, Zhang L#, Tong P#, Xun G, Su W, Xiong Z, Zhu T, Zheng Y, Luo S, Pan Y, Xia K*, Hu Z* (2013) Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. Clin Genet 83:560-564
16.Chen W#, Chen X#, Hu Z#, Lin H, Zhou F, Luo L, Zhang X, Zhong X, Yang Y, Wu C, Lin Z, Ye S, Liu Y* (2013) A Missense Mutation in CRYBB2 Leads to Progressive Congenital Membranous Cataract by Impacting the Solubility and Function of betaB2-Crystallin. PLoS One 8:e81290
17.Xiong Z, Luo S, Xu X, Zhang L, Peng H, Li W, Xue J, Chen X, Hu Z*, Xia K* (2012) Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population. Clin Exp Dermatol 37:177-180
18.Peng H#, Zhang Y#, Long Z, Zhao D, Guo Z, Xue J, Xie Z, Xiong Z, Xu X, Su W, Wang B, Xia K*, Hu Z* (2012) A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family. Gene 502:168-171（SCI）
19.Liu Y#, Hu Z#, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K* (2012) Mutation analysis of the NRXN1 gene in a Chinese autism cohort. J Psychiatr Res 46:630-634
20.Hu Z#, Xiong Z#, Xu X#, Li F, Lu L, Li W, Su J, Liu Y, Liu D, Xie Z, Peng Y, Kuang Y, Wu L, Zhang J, Pan Q, Tang B, Chen X*, Xia K* (2012) Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. Hum Genet 131:1269-1274
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