导师姓名： 王剑 专业代码： 100208
性别： 男 专业名称： 临床检验诊断学
培养单位： 附属儿童医学中心 三级学科/
专业领域：
导师类型： 博士生导师 专业学位导师：
联系方式： Labwangjian@126.com,上海市浦东新区东方路1678号
邮编： 200127 邮箱地址： Labwangjian@126.com

研究方向 (点击浏览详细信息)
遗传性疾病的基因诊断、致病机制研究及基因治疗

社会任职
中国妇幼保健协会出生缺陷防治与分子遗传分会青委副主委
中国妇幼保健协会儿童早期发展专业委员会高危儿童管理学组副组长
中华预防医学会出生缺陷预防与控制委员会咨询学组委员
上海市医学会检验医学分会青委副主任委员
上海市医学会医学遗传分会委员
上海市医学会罕见病分会委员
中国医师协会整合医学生殖分会 常务委员
中华医学会儿科学分会罕见病学组委员
中国医师协会青春期健康与医学专业委员会青春期健康与医学事业拓展工作组委员
中华医学会检验分会青年委员
中国遗传学会遗传咨询分会 委员
上海市医师协会检验医师分会委员，遗传性疾病学组组长
中国优生科学协会青年委员会 副主任委员

科研项目 项目编号项目名称课题来源起止年月批准经费承担职责
19XD** 新致病基因MAP4K4导致努南（样）综合征的分子机制研究 上海市青年优秀学术带头人 2019-05~2020-04 40万元 课题负责人
18SG14 RAS-MAPK信号通路基因突变导致努南(样)综合征的机制研究 上海市教委曙光人才计划 2019-01~2021-12 15万元 课题负责人
2018BR28 垂体激素缺乏症新基因DHX8的致病机制研究 上海市卫健委优秀学科带头人（新双百人） 2018-07~2021-06 45万元 课题负责人
** KRT26基因突变导致一种新型脊柱发育不全的致病机制研究 国家自然科学基金委面上项目 2018-01~2021-12 60万元 课题负责人
17ZR** 基于CRISPR/Cas9技术对进行性骨化性纤维发育不良小鼠模型的基因治疗研究 上海市科委探索类项目 2017-05~2020-04 20万元 课题负责人
TM201503 基于高通量测序技术和人工智能基因变异解释系统诊断罕见遗传病 交大医学院转化医学协同创新合作研究项目 2015-12~2017-11 25万元 课题负责人
** 罕见遗传病新致病基因的鉴定及其致病机制研究 上海市教委高峰学科—临床医学“临床专职科研队伍” 2015-10~2020-12 100万元 课题负责人
** 基于高通量测序技术和数据解读国际策略诊断罕见遗传病 上海市科委国际合作项目 2015-10~2018-12 30万元 课题负责人
** GDF6基因突变导致多发性骨性连接综合征的致病机制研究 国家自然科学基金面上项目 2015-01~2018-12 73万元 课题负责人
** 新的先天性心脏病相关基因的鉴定 国家自然科学基金面上项目 2014-01~2017-12 70万元 课题参与人
** 断裂点定位新技术研发及其在平衡性染色体结构变异致病机制研究中的作用 国家自然科学基金面上项目 2014-01~2017-12 70万元 课题参与人
** 基于核心家系的全外显子测序鉴定遗传性多发性骨软骨瘤新致病基因 国家自然科学基金青年项目 2013-01~2015-12 23万元 课题负责人
20114y072 GATA4基因R311W突变在先天性心脏病中的致病机制研究 上海市卫生局科研项目 2012-01~2014-12 5万元 课题负责人

学术论文 作者论文标题期刊名出版年卷期页码
Yao R, Yu T, Qing Y, Wang J （通讯作者）, Shen Y. Evaluation of copy number variant detection from panel-based next-generation sequencing data. Mol Genet Genomic Med. 2019 7(1):e00513.
Li N, Xu Y, Zhang Y, Li G, Yu T, Yao R, Zhou Y, Shen Y, Yin L, Wang X, Wang J. （通讯作者） Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture. Orphanet J Rare Dis. 2019 14(1):265.
Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X, Shen Y, Wang J. （通讯作者） New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development. Eur J Endocrinol. 2019 181(3):311-323.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J （通讯作者）, Fu L, Wang X. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clin Genet. 2019 96(4):290-299.
Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J. （通讯作者） Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). Eur J Med Genet. 2019 62(1):44-46.
Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J. （通讯作者） Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. Mol Cell Endocrinol. 2018 478:133-40.
Xu Y, Chen Y, Li N, Hu X, Li G, Ding Y, Li J, Shen Y, Wang X, Wang J. （通讯作者） Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. J Pediatr Endocrinol Metab. 2018 31(2):239-45.
Xu Y, Sun S, Li N, Yu T, Wang X, Wang J （通讯作者）, Bao N. Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. Gene. 2018 641:144-150.
Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J （通讯作者）, Shen Y. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience. Genet Med. 2018 20(9):1045-53.
Chen Y, Li G, Xu Y, Yu T, Zhang Y, Li N, Yao RE, Zhou Y, Wang X, Shen Y, Yin L, Wang J. （通讯作者） Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients. Clin Chim Acta. 2018 487:264-269.
Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X, Wang J. （通讯作者） Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. Orphanet J Rare Dis. 2018 13(1):178.
Li N, Zhao L, Li J, Ding Y, Shen Y, Huang X, Wang X, Wang J. （通讯作者） Turner syndrome caused by rare complex structural abnormalities involving chromosome X. Exp Ther Med. 2017 14(3):2265-2270.
Li N, Xu Y, Li G, Yu T, Yao RE, Wang X, Wang J （通讯作者） Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. Medicine (Baltimore). 2017 96(20):e6914.
Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Qing Y, Li J, Shen Y, Wang J （通讯作者）, Wang X. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency Int J Mol Sci. 2017 18(4). pii: E857.
Chen Y, Xu Y, Li G, Li N, Yu T, Yao RE, Wang X, Shen Y, Wang J （通讯作者） Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. J Child Neurol. 2017 32(4):379-386.
Wang J, Guo Y, Huang M, Zhang Z, Zhu J, Liu T, Shi L, Li F, Huang H, Fu L. Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. Orphanet J Rare Dis. 2017 12(1):26.
Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J （通讯作者） De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome Fetal Pediatr Pathol. 2017 36(2):130-138.
Chen X, Liu T, Huang M, Wu J, Zhu J, Guo Y, Xu X, Li F, Wang J （通讯作者）, Fu L. Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. Genet Test Mol Biomarkers. 2017 21(6):391-396.
Li Y, Wang J （共同第一作者）, Wang Z, Tang J, Yu T. A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. BMC Med Genet. 2017 18(1):126.
Yu T, He Y, Li N, Zhou Y, Wang Z, Fu Q, Wang J, Wang J. （通讯作者） Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. Clin Neurol Neurosurg. 2017 154:104-108.
Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Yao R, Li J, Shen Y, Wang X, Wang J. （通讯作者） Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. Am J Med Genet A. 2017 173(12):3189-3194.
Li N, Li J, Ding Y, Yu T, Shen Y, Fu Q, Shen Y, Huang X, Wang J. （通讯作者） Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency. Mol Med Rep. 2016 13(4):3127-32.
Li N, Ding YU, Yu T, Li J, Shen Y, Wang X, Fu Q, Shen Y, Huang X, Wang J. （通讯作者） Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype. Exp Ther Med. 2016 11(6):2247-2253.
Yu T, Li J, Li N, Liu R, Ding Y, Chang G, Chen Y, Shen Y, Wang X, Wang J. （通讯作者） Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. Int J Obes (Lond). 2016 40(12):1935-1941.
Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y. A New Subtype of Multiple-Synostoses Syndrome is Caused by a Mutation in GDF6 that Decreases its Sensitivity to Noggin and Enhances its Potency as a BMP Signal. J Bone Miner Res. 2016 31(4):882-9.
Zhang X, Wang J （共同第一作者）, Wang B, Chen S, Fu Q, Sun K. A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease. PLoS One. 2016 11(7):e**.
Li J, Li N, Ding Y, Huang X, Shen Y, Wang J （通讯作者）, Wang X. Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene. Meta Gene. 2016 7: 64–69.
Fu L, Luo S, Cai S, Hong W, Guo Y, Wu J, Liu T, Zhao C, Li F, Huang H, Huang M, Wang J. （通讯作者） Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. Am J Cardiol. 2016 118(6):888-94.
Yu L, Wang X, Wang Y, Wang J. （通讯作者） Identification of two novel mutations in patients with X-linked primary immunodeficiencies. Fetal Pediatr Pathol. 2015 34(2):91-8.
Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. Clin Chim Acta 2015 446:9-14.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 371(8):733-43.
Wang J, Zhang W, Jiang H, Wu BL, Primary Ovarian Insufficiency Collaboration Mutations in HFM1 in recessive primary ovarian insufficiency N Engl J Med 2014 370(10):972-4.
Wang J, Shen Y When a "Disease-Causing Mutation" Is Not a Pathogenic Variant Clin Chem 2014 60(5):711-3.
Wang Z, Wang J （共同第一作者）, Li Y, Geng J, Fu Q, Xu Y, Shen Y Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients Clin Chim Acta 2014 433C:195-199.
Geng J, Wang J （共同第一作者）, Yao RE, Liu XQ, Fu QH Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease World J Pediatr 2013 9(2):158-62.
Wang J, Yu T, Yin L, Li J, Yu L, Shen Y, Yu Y, Shen Y, Fu Q Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1 PLoS One 2013 8(6):e65676.
Wang J, Mei H, Chen W, Jiang Y, Sun W, Li F, Fu Q, Jiang F Study of eight GWAS-identified common variants for association with obesity-related indices in Chinese children at puberty Int J Obes (Lond) 2012 36(4):542-547.
Wang J, Liu H, Chen G, Tsuei SH, Yu T, Fu Q Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease J Pediatr Endocrinol Metab 2011 24(9-10):827-829.
Wang J, Lu Y, Chen H,Yin M, Yu T, Fu Q Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot Pathology 2011 43(4):322-326.
Yu Y, Wang J （共同第一作者）, Huang X, Wang Y, Yang P, Li J, Tsuei SH, Shen Y, Fu Q Molecular Characterization of 25 Chinese Pedigrees with 21-Hydroxylase Deficiency Genet Test Mol Biomarkers 2011 15(3):137-42.
Li Y, Wang J （共同第一作者）, Li H, Wang J, Wang X, Fu Q A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree Pathology 2010 42(1):91-3.
Zhao W, Wang J （共同第一作者）, Shen J, Sun K, Zhu J, Yu T, Ji W, Chen Y, Fu Q, Li F Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction Biochem Biophys Res Commun 2010 396(2):483-8.
Shen LS, Wang J （共同第一作者）, Shen DF, Yuan XL, Dong P, Li MX, Xue J, Zhang FM, Ge HL, Xu D CD4(+)CD25(+)CD127(low/-) regulatory T cells express Foxp3 and suppress effector T cell proliferation and contribute to gastric cancers progression Clin Immunol 2009 131(1):109-18.