杨涛医生个人简介
杨涛，男，1974年出生，上海交通大学医学院附属第九人民医院研究员，博士生导师，国家优青，上海市高校“东方学者”特聘教授，受教育部新世纪优秀人才支持计划、上海市教委曙光计划、上海市科委浦江计划资助。专长遗传性耳聋基础研究与临床诊断，2005年于美国爱荷华大学获遗传学博士学位，2008年博士后出站，2009年归国，先后于上海交通大学医学院附属新华医院及第九人民医院组建聋病分子生物学实验室，在上海市及周边地区开创性开展遗传性耳聋一级预防工作，已为逾5000例耳聋患者及家庭提供了耳聋基因检测、产前诊断与婚育指导，避免上百例遗传性耳聋的发生。近年来承担国家自然科学基金5项，发现TBC1D24、DMXL2、THOC1等多个遗传性耳聋新致病基因，明确了中国人群常见遗传性耳聋的基因突变图谱及基因型-表型关联，发表第一或通讯作者SCI论文54篇，影响因子逾200分，获教育部科技进步奖一等奖、美国人类遗传学会（ASHG）C.W. Cotterman青年科学家奖、上海市银蛇奖、明治生命科学奖。
社会任职
中国生物物理学会听觉、言语和交流分会 副会长全国卫生产业企业管理协会精准医疗分会 理事《听力学及言语疾病杂志》 编委《中华耳科学》 编委
获奖荣誉
教育部科技进步奖一等奖:遗传因素所致后天性听力障碍的精准防控研究（2019），第2完成人第十七届（2014年）明治生命科学奖第十四届（2013年）上海市卫生系统优秀青年人才“银蛇奖”三等奖美国人类遗传学会（American Society of Human Genetics，ASHG）2009年度C.W. Cotterman青年科学家奖
科研成果
1. Chen Y, Wang Z, Jiang Y, Lin Y, Wang X, Wang Z, Tang Z, Wang Y, Wang J, Gao Y, Shi W, Huang Z, Li Y, Shi J, Wang X, Yu Q, Ma Y, Zhou J, Yang T#, Wu H#. Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age. Genet Med. 2022, doi: 10.1016/j.gim.2021.12.007. Online ahead of print. (IF: 8.8)2. Xu P, Wang L, Peng H, Liu H, Liu H, Yuan Q, Lin Y, Xu J, Pang X#, Wu H#, Yang T#. Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice. Front Cell Neurosci. 2021, 15;15:804345. (IF: 5.5) 3. Chen P, Wang L, Chai Y, Wu H#, Yang T#. Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness. Front Genet. 2021, 8;12:773922. (IF: 4.6)4. Mei X, Zhou Y, Amjad M, Yang W, Zhu R, Asif M, Hussain HMJ, Yang T#, Iqbal F#, Hu H#. Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Neural Plast. 2021, 2021:5528434. (IF: 3.6)5. Pang XH, Zheng XY, Lin Y, Zheng H, Xu J, Liu D, Jin CY, Zhang LP, Zhang YT, Chu JS#, Chai YC#, Yang T#. A Novel p.Tyr129His Variant in SIX1 Leads to Dominant, Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia. Biomed Environ Sci. 2021. 34(4):314-318 (IF: 3.1)6. Zhang L, Gao Y, Zhang R, Sun F, Cheng C, Qian F, Duan X, Wei G, Sun C, Pang X, Chen P, Chai R, Yang T#, Wu H#, Liu D#. THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis. PLoS Genet. 2020, 16(8):e1008953 (IF: 5.9)7. Zou S, Mei X, Yang W, Zhu R, Yang T#, Hu H#. Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. Clin Genet. 2020, 97(2):352-356. (IF: 4.4)8. Yu X, Lin Y, Xu J, Che T, Li L, Yang T#, Wu H#, Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2mutations. Orphanet J Rare Dis. 2020, 15(1):29. (IF: 4.1)9. Wang L, Zhao L, Peng H, Xu J, Lin Y, Yang T#, Wu H#, Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural Plast, 2020, 2020: 6350479 (IF: 3.6)10. Xu P, Xu J, Peng H, Yang T#. Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families. Neural Plast. 2020, 2020:8872185. (IF: 3.6)11. Pang X, Zheng X, Kong X, Chai Y, Wang Y, Qian H, Yang B, Wu C, Chu J #, Yang T#. A homozygous MITF mutation leads to familial Waardenburg syndrome type 4. Am J Med Genet A. 2019, 179(2):243-248 (IF: 2.0)12. Yang T#, Guo L, Wang L, Yu X. Diagnosis, Intervention, and Prevention of Genetic Hearing Loss. Adv Exp Med Biol, 2019, 1130:73-92 (IF: 2.4, invited review)13. Chen P, Liu H, Lin Y, Xu J, Zhu W, Wu H#, Yang T#. EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families. Int J Pediatr Otorhinolaryngol. 2019, 123:141-145 (IF: 1.2)14. He L, Pang X, Liu H, Chai Y, Wu H#, Yang T#. Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients. Clin Genet, 2018, 93(4):899-904 (IF: 4.1)15. Chen P, Chai Y, Liu H, Li G, Wang L, Yang T#, Wu H#. Postnatal Development of Microglia-Like Cells in Mouse Cochlea. Neural Plast, 2018, 2018:1970150 (IF: 3.6) 16. Wang X, Wang L, Peng H, Yang T#, Wu H#. A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. Neural Plast, 2018, 2018:7272308 (IF: 3.6)17. Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T#, Wu H#. A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. Genet Med, 2017, 19(5):553-558 (IF: 9.9)18. Zhou XL, He LX, Yu LJ, Wang Y, Wang XJ#, Wang ED#, Yang T#. Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. Hum Mutat, 2017, 38(12):1740-1750. (IF: 5.4) 19. Liu H, Luo H, Yang T#, Wu H#, Chen D#. Association of leukocyte telomere length and the risk of age-related hearing impairment in Chinese Hans. Sci Rep, 2017, 7(1):10106 (IF: 4.1)20. He L, Pang X, Chen P, Wang X, Yang T#, Wu H#. Carrier re-sequencing reveals rare but benign variants in recessive deafness genes. Sci Rep, 2017, 7(1):11355 (IF: 4.1)21. Chen Y, Hu L, Wang X, Sun C, Lin X, Li L, Mei L, Huang Z, Yang T#, Wu H#. Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2. Sci Rep, 2016, 6: 33279 (IF: 4.3)22. Sun L, Li X, Shi J, Pang X, Hu Y, Wang X, Wu H#, Yang T#. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and typeII Waardenburg Syndrome. Sci Rep, 2016, 6: 35498 (IF: 4.3)23. Chen P, He L, Pang X, Wang X, Yang T#, Wu H#. NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plast, 2016, 2016: 3018132 (IF: 3.1)24. He L, Pang X, Chen P, Wu H#, Yang T#. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. Neural Plast, 2016, 2016: 9890827 (IF: 3.1)25. Fu X, Cai Y, Hu Y, Liu J#, Yang T#. Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China. Am J Med Genet A, 2016, 170(12): 3180-3184 (IF: 2.3)26. Chai Y, Chen D, Sun L, Li L, Chen Y, Pang X, Zhang L, Wu H#, Yang T#. The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes. Clin Genet. 2015, 87(4):350-355 (IF: 3.9)27. Chen Y, Wang Z, Wang Z, Chen D, Chai Y, Pang X, Sun L, Wang X, Yang T#, Wu H#. Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss. PLoS One, 2015, 10(5): e0127879. (IF: 3.1)28. Pang X, Luo H, Chai Y, Wang X, Sun L, He L, Chen P, Wu H#, Yang T#. A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability. PLoS One, 2015, 10(3):e0120816. (IF: 3.1)29. Pang X, Chai Y, He L, Chen P, Wang X, Li L, Jia H, Wu H#, Yang T#. A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibularaqueduct but without bi-allelic SLC26A4 mutations. Int J Pediatr Otorhinolaryngol. 2015, 79(12):2248-2252 (IF: 1.1)30. Pang X, Chai Y, Chen P, He L, Wang X, Wu H#, Yang T#. Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol. 2015, 79(8):1351-1353 (IF: 1.1)31. Chen D, Zhu W, Chai Y, Chen Y, Sun L, Yang T#, Wu H#. Mutation in PCDH15 may modify the phenotypic expression of the 7511T＞C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2015, 79(10):1654-1657 (IF: 1.1)32. Pang X, Wang Z, Chai Y, Chen H, Li L, Sun L, Jia H, Wu H#, Yang T#. A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. Ann Otol Rhinol Laryngol. 2015, 124(9):745-751 (IF: 1.2)33. Zhang Z, Wang Z, Sun L, Li X, Huang Q, Yang T#, Wu H#. Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma. Genet Med., 2014, 16(3):364-370（IF: 7.3）34. Zhang L, Hu L, Chai Y, Pang X, Yang T#, Wu H#. A Dominant Mutation in the Stereocilia-expressing Gene TBC1D24 is a Probable Cause for Non-syndromic Hearing Impairment. Hum Mutat. 2014 35(7):814-818. (IF: 5.1)35. Pang X, Chai Y, Sun L, Chen D, Chen Y, Zhang Z, Wu H#, Yang T#. Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans. PLoS One. 2014, 9(6):e100483. (IF: 3.2)36. Chai Y, Pang X, Chen D, Li L, Chen Y, Sun L, Wang X, Wu H#, Yang T#. Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans. Am J Med Genet A, 2014, 164A(12):3115-3119（IF: 2.2）37. Chai Y, Sun L, Pang X, Wang X, Chen D, Chen Y, Wu H#, Yang T#. Identification of both MT-RNR1 m.1555A＞G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2014; 78(4):614-617 (IF: 1.2)38. Chen Y, Li L, Sun LH, Yang T#, Wu H#. Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis. Int J Pediatr Otorhinolaryngol. 2014; 78(7):1080-1083 (IF: 1.2)39. Chai Y, Chen D, Wang X, Wu H#, Yang T#. A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. Int J Pediatr Otorhinolaryngol. 2014; 78(8):1265-1268. (IF: 1.2)40. Wang ZT, Chen Y, Chen DY, Chai YC, Pang XH, Sun LH, Wang XW, Yang T#, Wu H#. Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness. Int J Pediatr Otorhinolaryngol. 2014; 78(8):1513-1516. (IF: 1.2)41. Yang T, Wei X, Chai Y, Li L, Wu H#. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013; 8(1):85.（IF: 4.0）42. Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H#. Double heterozygous mutations of MITF and PAX3 result in Waardenburg Syndrome with increased penetrance in pigmentary defects. Clin Genet, 2013, 83(1):78-82 (IF: 3.7)43. Luo H*, Yang T*, Jin X, Pang X, Li J, Chai Y, Li L, Zhang Y, Zhang L, Zhang Z, Wu W, Zhang Q, Hu X, Sun J, Jiang X, Fan Z, Huang Z#, Wu H#. Association of GRM7 Variants with Different Phenotype Patterns of Age-Related Hearing Impairment in an Elderly Male Han Chinese Population. PLoS One. 2013, 8(10):e77153 （*共同第一作者，IF: 3.5）44. Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H#, Yang T#. Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. Am J Med Genet A, 2013, 161(9):2226-2233（IF: 2.0）45. Chen D, Chai Y, Yang T#, Wu H#. Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family. Int J Pediatr Otorhinolaryngol. 2013, 77(10): 1711–1715（IF: 1.3）46. Zhang LP, Chai YC, Yang T#, Wu H#. Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder. Int J Pediatr Otorhinolaryngol. 2013, 77(10): 1749–1752（IF: 1.3）47. Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, Huang Z, Li Y, Xiang M, Yang J, Yao G, Wang Y, Yang T#, Wu H#. The p.V37I Exclusive Genotype Of GJB2: A Genetic Risk-Indicator of Postnatal Permanent Childhood Hearing Impairment. PLoS One, 2012, 7(5):e36621 (IF :3.7)48. Li X, Chai Y, Tao Z, Li L, Huang Z, Li Y, Wu H#, Yang T#, Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. Int J Pediatr Otorhinolaryngol., 2012, 76(1):152-154 (IF : 1.4) 49. Yang T#; Kahrizi K; Bazazzadeghan N; Meyer N; Najmabadi H; Smith RJ#. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet, 2010, 77(4):395-398 (IF: 2.9)50. Ma Y*, Yang T *, Li Y, Tao Z, Huang Z, Li X, Chai Y, Ouyang Z, Shen X, Wu H#. Genotype-phenotype Correlation of Two Prevalent GJB2 Mutations in Chinese Newborn Infants Ascertained from the Universal Newborn Hearing Screening Program. Am J Med Genet A, 2010, 152A(11): 2912-2915 (IF: 2.5)51. Yang T, Gurrola JG, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith R.J#. Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet, 2009, 84(5): 651-657 (IF: 12.3)52. Yang T, Smith R.J#. The c.-103T＞C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism? Hum Mutat, 2009, 30(10):1469-1470 (IF: 6.9)53. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith R.J#, Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet, 2007, 80(6): 1055-1063 (IF: 11.1) 54. Yang T, Pfister M, Blin N, Zenner HP, Pusch CM, Smith RJ#. Genetic heterogeneity of deafness phenotypes linked to DFNA4. Am J Med Genet A.，2005, 139(1):9-12 (IF: 1.9). 55. 施俊，何龙霞，杨涛#. 运用耳聋基因隐性突变携带者重测序策略纠正假阳性变异的致病性误判. 上海交通大学学报（医学版）, 2017, 37(11): 1534-154056. 何龙霞，杨涛#. 父母基因型验证对靶向二代测序结果解读的重要性. 中国科技论文在线， 2016，在线发表 57. 陈鹏辉，杨涛#. 利用定向捕获联合二代测序技术发现一DFNA11的新致病突变. 中国科技论文在线， 2016，在线发表 58. 陈鹏辉，杨涛#. TBC1D24基因的致聋机制研究进展. 中华耳科学杂志, 2016, 14(2): 299-30359. 陈鹏辉，杨涛#. 利用全外显子测序技术确诊1例常染色体显性遗传性耳聋大家系为穆-韦综合征. 上海交通大学学报（医学版）, 2016, 36(08): 1135-113960. 庞秀红，柴永川，陈鹏辉，孙莲花，吴皓，杨涛. 前庭导水管扩大耳聋人群中SLC26A4单等位基因突变的出现率及致病相关性研究. 中国听力语言康复科学杂志，2015，70(3):190-19461. 杨涛#. 遗传性聋基因诊断与预防：进展与关注. 临床耳鼻咽喉头颈外科杂志, 2014, 28(22):1736-174062. 孙莲花，李磊，王晓雯，朱亚忠，李晓华，吴皓#，杨涛#. 芯片检测结合测序技术在遗传性耳聋产前基因筛查与诊断中的应用. 中华耳鼻咽喉-头颈外科杂志，2012，47(12):991-99563. 陶峥，柴永川，李磊，李晓华，杨涛#，吴皓#。一个Pendred综合征家系的临床及SLC26A4基因检测分析. 听力学及言语疾病杂志, 2011, 20(6): 528-53264. 杨涛#. 从转化医学角度看聋病分子生物学的发展与走向. 转化医学与科研管理, 2011, 2: 62-6565. 柴永川,李晓华,李磊,吕静荣,李蕴,马衍,杨涛#,吴皓#. 上海地区35例大前庭导水管综合征相关耳聋患者常见致病基因的分子诊断研究. 诊断学理论与实践杂志, 2010, 9(5), 125-130
工作经历
2017年7月-至今上海交通大学医学院附属第九人民医院，耳鼻咽喉头颈外科研究员
2009年7月-2017年6月上海交通大学医学院附属新华医院，耳鼻咽喉头颈外科研究员
教育经历
博士后美国爱荷华大学医院（University of Iowa Hospital and Clinics）聋病分子生物学
博士美国爱荷华大学（University of Iowa）遗传学
本科北京大学生物化学及分子生物学
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