浙江大学医学院博士研究生导师简介：张咸宁

　　6.国家自然科学基金面上项目：“用显微注射和基因敲入技术构建表皮松解性掌跖角化症Krt9基因indel突变小鼠模型”(编号：30972644;经费额：33万元;起止年月：2010.1-2012.12)

　　7.浙江省科技计划面上项目：“I型脊髓性肌萎缩症(SMA1)早诊平台的构建”(编号：2007C33049;经费额：10万元;起止年月：2007.4-2009.12)。

　　8.国家自然科学基金面上项目：“表皮松解性掌跖角化症(EPPK)的植入前遗传学诊断研究”(编号：30672250;经费额：28万元;起止年月：2007.1-2009.12)。

　　9.宁波市重点博士基金：“中国人EPPK基因突变谱及全反式维甲酸的治疗”(编号：2004A610007;经费额：10万元;起止年月：2004.1-2005.12)。

　　10.浙江省医药卫生科研基金：“中国人表皮松解性掌跖角化症KRT9基因突变谱的绘制”(编号：2003B131;经费额：1万元;起止年月：2003.7-2005.12)。

　　11.宁波市农业与社会发展科研基金：“现代分子诊断技术的建立、应用及研究”(编号：01N40108-2;经费额：4万元;起止年月：2001.1-2003.12)。

　　12.浙江省自然科学基金：“精神分裂症的遗传学与致基因的定位克隆”(编号：300015;经费额：4万元;起止年月：2001.1-2003.12)。

　　13.浙江省医药卫生科研基金：“中国人精神分裂症相关基因的定位”(编号：2000A029;经费额：2万元;起止年月：2000.5-2003.12)。

　　14.浙江省教育厅科研基金：“中国人精神分裂症相关基因的定位克隆”(编号：2000004;经费额：1.5万元;起止年月：2000.7-2002.12)。

　　15.宁波市博士基金：“精神分裂症的遗传学与致基因的定位克隆”(编号：0011011;经费额：3万元;起止年月：2001.1-2002.12)。

　　16.中国博士后自然科学基金：“Arrestins在阿片肽受体的脱敏中的作用”(编号：中博基〔1997〕7号文件;经费额：1万元;起止年月：1996-1998)。

　　已发表的SCI和EI收录论文：(*：通讯作者)

　　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)

　　17.Jiang JM, Yu L, Guan YT, Yu ZL, Huang XH, Chen XS, Tang LS, Zhang XN. Seizure-related 6, a brain-specific expression gene, is highly expressed in the human cerebellum. Neural Regeneration Research, 2010;5(16):1231-1237.(SCI。2012年IF= 0.144)

　　18.Chen C-Y, Xu C-M, Du Z-F, Chen X-L, Ren G-L, Zhang X-N*. A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. Genetic Testing and Molecular Biomarkers, 2010;14(2):193-196.(SCI。5-Year IF = 1.345)

　　19.Chen X-L, Xu C-M, Cai S-R, Chen C-Y, Zhang X-N*. Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred. Prenatal Diagnosis 2009;29(9):911-913.(SCI。5-Year IF = 2.334)

　　20.Xu C-M, Chen X-L, Chen C-Y, Zhang X-N*. Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. European Journal of Dermatology 2009;19(3):265-266.(SCI。5-Year IF = 2.189)

　　21.Liang Y-H, Chen X-L, Yu Z-S, Chen C-Y, Bi S, Mao L-G, Zhou B-L, Zhang X-N*. Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy. Journal of Zhejiang University Science B,2009; 10(1):29-34.(SCI。5-Year IF = 1.285)

　　22.Zhang X-N*, Qi M. Mitochondrion and its related disorders: Making a comeback. Journal of Zhejiang University Science B,2008; 9(2):90-92.(SCI。5-Year IF = 1.285)

　　23.Zhang X-N, Zhou M-N, Qiu Y-Q, Ding S-P, Qi M, Li J-C. Genetic analysis of RET, EDNRB and EDN3 genes and three SNPs in MCS+9.7 in Chinese patients with isolated Hirschsprung disease. Biochemical Genetics,2007;45(7/8): 523-527.(SCI。5-Year IF = 1.065)

　　24.Yu R, Zhang X-N*, Huang X-X, Ding S-P, Li J-C. Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: A case-control study. American Journal of Medical Genetics Part B-Neuropsychiatric Genetics,2007;144B(4):570-573.(SCI。5-Year IF = 3.395)

　　25.Yu R, Lai Z, Zhou W, Ti D-D, Zhang X-N*. Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. American Journal of Ophthalmology, 2006;141(6): 1136-1138.(SCI。5-Year IF = 4.292)