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1.Wei W, He H-L, Chen C-Y, Zhao Y, Jiang H-L, Liu W-T, Du Z-F, Chen X-L, Shi S-Y, Zhang X-N*. Whole exome sequencing identifies PTCH1 and COL17A1 as susceptible genes in Chinese patients with ossification of the posterior longitudinal ligament of the cervical spine. Genetics and Molecular Research, 2014;13(1):1794-1804.（SCI。5-Year IF = 1.109）
2.Liu X-Y, Zhang X-N, Qiao J-J, Fang H. Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. Int J Med Sci, 2013;10(6):766-770.（SCI。2012 IF = 2.065）
3.Qi X-P, Liu W-T, Li J-Y, Dai Y, Ma J-M, Zhao Y, Fei J, Shen M, Jin H-Y, Chen Z-G, Du Z-F, Chen X-L, Zhang X-N*. p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. Molecular Medicine Reports, 2013; 8(3):799-805.（SCI。5-Year IF = 0.97）
4.Qi X-P, Zhao J-Q, Du Z-F, Yang R-R, Ma J-M, Fei J, Cheng J, Han J-S, Jin H-Y, Chen Z-G, Wang J-Q, Yang Y-P, Ying R-B, Chen X-L, Liu W-T, Zhao Y, Jiang H-L, Zhang X-N*. Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China. European Journal of Surgical Oncology, 2013; 39(9):1007-1012.（SCI。5-Year IF = 2.708）
5.Qi X-P, Du Z-F, Ma J-M, Chen X-L, Zhang Q, Fei J, Wei X-M, Chen D, Ke H-P, Liu X-Z, Li F, Chen Z-G, Su Z, Jin H-Y, Liu W-T, Zhao Y, Lan Z-Z, Li P-F, Fang M-Y, Dong W, Zhang X-N*. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. Gene, 2013; 516(1):93-100.（SCI。5-Year IF = 2.371）
6.Xu W-Z, Chen C-Y, Chen X-L, Zhao Y, Liu W-T, Du Z-F, Zhang X-N*. A novel de novo mutation of the NIPBL gene in an isolated Chinese patient with Cornelia de Lange syndrome. Chinese Medical Journal, 2013;126(1):191-192.（SCI。5-Year IF = 1.017）
7.Qi X-P, Chen X-L, Ma J-M, Du Z-F, Fei J, Yang C-P, Cheng J, Song Q-Z, Han J-S, Jin H-Y, Chen Z-G, Wang J-Q, Yang Y-P, Ying R-B, Liu W-T, Chen X-L, Zhao Y, Chen C-Y, Jiang H-L, Ke H-P, Zhang X-N*. RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China. Thyroid, 2012; 22(12): 1257-1265.（SCI。5-Year IF = 3.869）
8.Chen X-L, Zhao Y, Ke H-P, Liu W-T, Du Z-F, Zhang X-N*. Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. Gene, 2012; 507(2):174-176.（SCI。5-Year IF = 2.371）
9.Du Z-F, Xu C-M, Zhao Y, Liu W-T, Chen X-L, Chen C-Y, Fang H, Ke H-P, Zhang X-N*. Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita type 1 pedigrees associated with fissured tongue. European Journal of Dermatology, 2012; 22(4): 476-480.（SCI。5-Year IF = 2.189）
10.Liu W-T, Ke H-P, Zhao Y, Chen X-L, Lu J-J, Du Z-F, Yu D, Zhang X-N*. The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. Anatomical Record, 2012; 295(4):604-609.（SCI。5-Year IF = 1.632）
11.Shu L, Zhang Y-M, Huang X-X, Chen C-Y, Zhang X-N*. Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation. International Journal of Ophthalmology, 2012;5(1):28-31.（SCI。5-Year IF = 0.084）
12.Qi X-P, Ying R-B, Ma J-M, Liu W-T, Du Z-F, Fei J, Yang C-P, Song Q-Z, Jin H-Y, Chen Z-G, Han J-S, Wang J-Q, Chen X-L, Zhao Y, Lu J-J, Zhang X-N*. Case Report: A p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. Familial Cancer, 2012; 11(1):131-136.（SCI。5-Year IF = 1.922）
13.Jiang JM, Chen X-L, Liu W-T, Guan YT, Han Y, Wang F, Lu J-J, Du Z-F, Yu ZL, Zhang X-N*. Correlation between SEZ-6 gene variants and idiopathic generalized epilepsy in a southern Chinese Han population. Neural Regeneration Research, 2012;7(2):96-100.（SCI。2012年IF= 0.144）
14.Du Z-F, Wei W, Wang Y-F, Chen X-L, Chen C-Y, Liu W-T, Lu J-J, Mao L-G, Xu C-M, Fang H, Zhang X-N*. A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. European Journal of Dermatology, 2011; 21(5):675-679.（SCI。5-Year IF = 2.189）（当期EJD杂志同时配发了评论“Editorial”，21(5):659）
15.Wei W, Chen C-Y, Liu W-T, Du Z-F, Chen X-L, Zhang X-N*. Large deletions in the SMA region of a patient with type 3 spinal muscular atrophy. Neural Regeneration Research, 2011; 6(23):1810-1813.（SCI。2012年IF= 0.144）
16.Qi X-P, Ma J-M, Du Z-F, Ying R-B, Fei J, Jin H-Y, Han J-S, Wang J-Q, Chen X-L, Chen C-Y, Liu W-T, Lu J-J, Zhang J-G, Zhang X-N*. RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family. PLoS One, 2011;6(5):e20353.（SCI。5-Year IF = 4.244）
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