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(AmericanSocietyofHumanGenetics,ASHG)2009年度C.W.Cotterman青年科学家奖科研成果1.ChenY,WangZ,JiangY,LinY,WangX,WangZ,TangZ,WangY,WangJ,GaoY,ShiW,HuangZ,LiY,ShiJ,WangX,YuQ,MaY,ZhouJ,YangT#,WuH#.Biallelicp.V37IvariantinGJB2isassociatedwithincreasingincidenceofhearinglosswithage.GenetMed.2022,doi:10.1016/j.gim.2021.12.007.Onlineaheadofprint.(IF:8.8)2.XuP,WangL,PengH,LiuH,LiuH,YuanQ,LinY,XuJ,PangX#,WuH#,YangT#.DisruptionofHars2inCochlearHairCellsCausesProgressiveMitochondrialDysfunctionandHearingLossinMice.FrontCellNeurosci.2021,15;15:804345.(IF:5.5)3.ChenP,WangL,ChaiY,WuH#,YangT#.DetectionandFunctionalVerificationofNoncanonicalSpliceSiteMutationsinHereditaryDeafness.FrontGenet.2021,8;12:773922.(IF:4.6)4.MeiX,ZhouY,AmjadM,YangW,ZhuR,AsifM,HussainHMJ,YangT#,IqbalF#,HuH#.Next-GenerationSequencingIdentifiesPathogenicVariantsinHGF,POU3F4,TECTA,andMYO7AinConsanguineousPakistaniDeafFamilies.NeuralPlast.2021,2021:5528434.(IF:3.6)5.PangXH,ZhengXY,LinY,ZhengH,XuJ,LiuD,JinCY,ZhangLP,ZhangYT,ChuJS#,ChaiYC#,YangT#.ANovelp.Tyr129HisVariantinSIX1LeadstoDominant,Delayed-onsetHearingLosswithPossibleAssociationwithCongenitalAnosmia.BiomedEnvironSci.2021.34(4):314-318(IF:3.1)6.ZhangL,GaoY,ZhangR,SunF,ChengC,QianF,DuanX,WeiG,SunC,PangX,ChenP,ChaiR,YangT#,WuH#,LiuD#.THOC1deficiencyleadstolate-onsetnonsyndromichearinglossthroughp53-mediatedhaircellapoptosis.PLoSGenet.2020,16(8):e1008953(IF:5.9)7.ZouS,MeiX,YangW,ZhuR,YangT#,HuH#.Whole-exomesequencingidentifiesrarepathogenicandcandidatevariantsinsporadicChineseHandeafpatients.ClinGenet.2020,97(2):352-356.(IF:4.4)8.YuX,LinY,XuJ,CheT,LiL,YangT#,WuH#,MolecularepidemiologyofChineseHandeafpatientswithbi-allelicandmono-allelicGJB2mutations.OrphanetJRareDis.2020,15(1):29.(IF:4.1)9.WangL,ZhaoL,PengH,XuJ,LinY,YangT#,WuH#,TargetedNext-GenerationSequencingIdentifiedCompoundHeterozygousMutationsinMYO15AastheProbableCauseofNonsyndromicDeafnessinaChineseHanFamily.NeuralPlast,2020,2020:6350479(IF:3.6)10.XuP,XuJ,PengH,YangT#.CompoundHeterozygousMutationsinTMC1andMYO15AAreAssociatedwithAutosomalRecessiveNonsyndromicHearingLossinTwoChineseHanFamilies.NeuralPlast.2020,2020:8872185.(IF:3.6)11.PangX,ZhengX,KongX,ChaiY,WangY,QianH,YangB,WuC,ChuJ#,YangT#.AhomozygousMITFmutationleadstofamilialWaardenburgsyndrometype4.AmJMedGenetA.2019,179(2):243-248(IF:2.0)12.YangT#,GuoL,WangL,YuX.Diagnosis,Intervention,andPreventionofGeneticHearingLoss.AdvExpMedBiol,2019,1130:73-92(IF:2.4,invitedreview)13.ChenP,LiuH,LinY,XuJ,ZhuW,WuH#,YangT#.EYA1mutationsleadstoBranchio-OtosyndromeintwoChineseHandeaffamilies.IntJPediatrOtorhinolaryngol.2019,123:141-145(IF:1.2)14.HeL,PangX,LiuH,ChaiY,WuH#,YangT#.Targetednext-generationsequencingandparentalgenotypinginsporadicChineseHandeafpatients.ClinGenet,2018,93(4):899-904(IF:4.1)15.ChenP,ChaiY,LiuH,LiG,WangL,YangT#,WuH#.PostnatalDevelopmentofMicroglia-LikeCellsinMouseCochlea.NeuralPlast,2018,2018:1970150(IF:3.6)16.WangX,WangL,PengH,YangT#,WuH#.ANovelp.G141RMutationinILDR1LeadstoRecessiveNonsyndromicDeafnessDFNB42inTwoChineseHanFamilies.NeuralPlast,2018,2018:7272308(IF:3.6)17.ChenDY,LiuXF,LinXJ,ZhangD,ChaiYC,YuDH,SunCL,WangXL,ZhuWD,ChenY,SunLH,WangXW,ShiFX,HuangZW,YangT#,WuH#.AdominantvariantinDMXL2islinkedtononsyndromichearingloss.GenetMed,2017,19(5):553-558(IF:9.9)18.ZhouXL,HeLX,YuLJ,WangY,WangXJ#,WangED#,YangT#.MutationsinKARScauseearly-onsethearinglossandleukoencephalopathy:Potentialpathogenicmechanism.HumMutat,2017,38(12):1740-1750.(IF:5.4)19.LiuH,LuoH,YangT#,WuH#,ChenD#.Associationofleukocytetelomerelengthandtheriskofage-relatedhearingimpairmentinChineseHans.SciRep,2017,7(1):10106(IF:4.1)20.HeL,PangX,ChenP,WangX,YangT#,WuH#.Carrierre-sequencingrevealsrarebutbenignvariantsinrecessivedeafnessgenes.SciRep,2017,7(1):11355(IF:4.1)21.ChenY,HuL,WangX,SunC,LinX,LiL,MeiL,HuangZ,YangT#,WuH#.Characterizationofaknock-inmousemodelofthehomozygousp.V37IvariantinGjb2.SciRep,2016,6:33279(IF:4.3)22.SunL,LiX,ShiJ,PangX,HuY,WangX,WuH#,YangT#.Molecularetiologyandgenotype-phenotypecorrelationofChineseHandeafpatientswithtypeIandtypeIIWaardenburgSyndrome.SciRep,2016,6:35498(IF:4.3)23.ChenP,HeL,PangX,WangX,YangT#,WuH#.NLRP3IsExpressedintheSpiralGanglionNeuronsandAssociatedwithBothSyndromicandNonsyndromicSensorineuralDeafness.NeuralPlast,2016,2016:3018132(IF:3.1)24.HeL,PangX,ChenP,WuH#,YangT#.MutationintheHairCellSpecificGenePOU4F3IsaCommonCauseforAutosomalDominantNonsyndromicHearingLossinChineseHans.NeuralPlast,2016,2016:9890827(IF:3.1)25.FuX,CaiY,HuY,LiuJ#,YangT#.AttitudestowardcarrierscreeningandprenataldiagnosisforrecessivehereditarydeafnessamongtheeducatedpopulationinurbanChina.AmJMedGenetA,2016,170(12):3180-3184(IF:2.3)26.ChaiY,ChenD,SunL,LiL,ChenY,PangX,ZhangL,WuH#,YangT#.Thehomozygousp.V37IvariantofGJB2isassociatedwithdiversehearingphenotypes.ClinGenet.2015,87(4):350-355(IF:3.9)27.ChenY,WangZ,WangZ,ChenD,ChaiY,PangX,SunL,WangX,YangT#,WuH#.TargetedNext-GenerationSequencinginUyghurFamilieswithNon-SyndromicSensorineuralHearingLoss.PLoSOne,2015,10(5):e0127879.(IF:3.1)28.PangX,LuoH,ChaiY,WangX,SunL,HeL,ChenP,WuH#,YangT#.A1.6-MbMicrodeletioninChromosome17q22LeadstoNOG-RelatedSymphalangismSpectrumDisorderwithoutIntellectualDisability.PLoSOne,2015,10(3):e0120816.(IF:3.1)29.PangX,ChaiY,HeL,ChenP,WangX,LiL,JiaH,WuH#,YangT#.A7666-bpgenomicdeletionisfrequentinChineseHandeafpatientswithnon-syndromicenlargedvestibularaqueductbutwithoutbi-allelicSLC26A4mutations.IntJPediatrOtorhinolaryngol.2015,79(12):2248-2252(IF:1.1)30.PangX,ChaiY,ChenP,HeL,WangX,WuH#,YangT#.Mono-allelicmutationsofSLC26A4isover-presentedindeafpatientswithnon-syndromicenlargedvestibularaqueduct.IntJPediatrOtorhinolaryngol.2015,79(8):1351-1353(IF:1.1)31.ChenD,ZhuW,ChaiY,ChenY,SunL,YangT#,WuH#.MutationinPCDH15maymodifythephenotypicexpressionofthe7511T>CmutationinMT-TS1inaChineseHanfamilywithmaternallyinheritednonsyndromichearingloss.IntJPediatrOtorhinolaryngol.2015,79(10):1654-1657(IF:1.1)32.PangX,WangZ,ChaiY,ChenH,LiL,SunL,JiaH,WuH#,YangT#.ANovelMissenseMutationofNOGInterferesWiththeDimerizationofNOGandCausesProximalSymphalangismSyndromeinaChineseFamily.AnnOtolRhinolLaryngol.2015,124(9):745-751(IF:1.2)33.ZhangZ,WangZ,SunL,LiX,HuangQ,YangT#,WuH#.Mutationspectrumanddifferentialgeneexpressionincysticandsolidvestibularschwannoma.GenetMed.,2014,16(3):364-370(IF:7.3)34.ZhangL,HuL,ChaiY,PangX,YangT#,WuH#.ADominantMutationintheStereocilia-expressingGeneTBC1D24isaProbableCauseforNon-syndromicHearingImpairment.HumMutat.201435(7):814-818.(IF:5.1)35.PangX,ChaiY,SunL,ChenD,ChenY,ZhangZ,WuH#,YangT#.CharacterizationofSpectrum,denovoRateandGenotype-PhenotypeCorrelationofDominantGJB2MutationsinChineseHans.PLoSOne.2014,9(6):e100483.(IF:3.2)36.ChaiY,PangX,ChenD,LiL,ChenY,SunL,WangX,WuH#,YangT#.Molecularetiologyofnon-dominant,non-syndromic,mild-to-moderatechildhoodhearingimpairmentinChineseHans.AmJMedGenetA,2014,164A(12):3115-3119(IF:2.2)37.ChaiY,SunL,PangX,WangX,ChenD,ChenY,WuH#,YangT#.IdentificationofbothMT-RNR1m.1555A>Gandbi-allelicGJB2mutationsinprobandswithnon-syndromichearingloss.IntJPediatrOtorhinolaryngol.2014;78(4):614-617(IF:1.2)38.ChenY,LiL,SunLH,YangT#,WuH#.Newborndriedblood-spotscreeningofthep.V37IvariantofGJB2byhigh-resolutionmeltinganalysis.IntJPediatrOtorhinolaryngol.2014;78(7):1080-1083(IF:1.2)39.ChaiY,ChenD,WangX,WuH#,YangT#.AnovelsplicesitemutationinDFNA5causeslate-onsetprogressivenon-syndromichearinglossinaChinesefamily.IntJPediatrOtorhinolaryngol.2014;78(8):1265-1268.(IF:1.2)40.WangZT,ChenY,ChenDY,ChaiYC,PangXH,SunLH,WangXW,YangT#,WuH#.MutationanalysisofsevenconsanguineousUyghurfamilieswithnon-syndromicdeafness.IntJPediatrOtorhinolaryngol.2014;78(8):1513-1516.(IF:1.2)41.YangT,WeiX,ChaiY,LiL,WuH#.Geneticetiologystudyofthenon-syndromicdeafnessinChineseHansbytargetednext-generationsequencing.OrphanetJRareDis.2013;8(1):85.(IF:4.0)42.YangT;LiX;HuangQ;LiL;ChaiY;SunL;WangX;ZhuY;WangZ;HuangZ;LiY;WuH#.DoubleheterozygousmutationsofMITFandPAX3resultinWaardenburgSyndromewithincreasedpenetranceinpigmentarydefects.ClinGenet,2013,83(1):78-82(IF:3.7)43.LuoH*,YangT*,JinX,PangX,LiJ,ChaiY,LiL,ZhangY,ZhangL,ZhangZ,WuW,ZhangQ,HuX,SunJ,JiangX,FanZ,HuangZ#,WuH#.AssociationofGRM7VariantswithDifferentPhenotypePatternsofAge-RelatedHearingImpairmentinanElderlyMaleHanChinesePopulation.PLoSOne.2013,8(10):e77153(*共同第一作者,IF:3.5)44.ChaiY,HuangZ,TaoZ,LiX,LiL,LiY,WuH#,YangT#.MolecularetiologyofhearingimpairmentassociatedwithnonsyndromicenlargedvestibularaqueductinEastChina.AmJMedGenetA,2013,161(9):2226-2233(IF:2.0)45.ChenD,ChaiY,YangT#,WuH#.ClinicalcharacterizationofanovelCOCHmutationG87VinaChineseDFNA9family.IntJPediatrOtorhinolaryngol.2013,77(10):1711–1715(IF:1.3)46.ZhangLP,ChaiYC,YangT#,WuH#.IdentificationofnovelOTOFcompoundheterozygousmutationsbytargetednext-generationsequencinginaChinesepatientwithauditoryneuropathyspectrumdisorder.IntJPediatrOtorhinolaryngol.2013,77(10):1749–1752(IF:1.3)47.LiL,LuJ,TaoZ,HuangQ,ChaiY,LiX,HuangZ,LiY,XiangM,YangJ,YaoG,WangY,YangT#,WuH#.Thep.V37IExclusiveGenotypeOfGJB2:AGeneticRisk-IndicatorofPostnatalPermanentChildhoodHearingImpairment.PLoSOne,2012,7(5):e36621(IF:3.7)48.LiX,ChaiY,TaoZ,LiL,HuangZ,LiY,WuH#,YangT#,NovelmutationsinATP6V0A4areassociatedwithatypicalprogressivesensorineuralhearinglossinaChinesepatientwithdistalrenaltubularacidosis.IntJPediatrOtorhinolaryngol.,2012,76(1):152-154(IF:1.4)49.YangT#;KahriziK;BazazzadeghanN;MeyerN;NajmabadiH;SmithRJ#.AnovelmutationadjacenttotheBthmousemutationintheTMC1genemakesthismouseanexcellentmodelofhumandeafnessattheDFNA36locus.ClinGenet,2010,77(4):395-398(IF:2.9)50.MaY*,YangT*,LiY,TaoZ,HuangZ,LiX,ChaiY,OuyangZ,ShenX,WuH#.Genotype-phenotypeCorrelationofTwoPrevalentGJB2MutationsinChineseNewbornInfantsAscertainedfromtheUniversalNewbornHearingScreeningProgram.AmJMedGenetA,2010,152A(11):2912-2915(IF:2.5)51.YangT,GurrolaJG,WuH,ChiuSM,WangemannP,SnyderPM,SmithR.J#.MutationsofKCNJ10togetherwithmutationsofSLC26A4causedigenicnonsyndromichearinglossassociatedwithenlargedvestibularaqueductsyndrome.AmJHumGenet,2009,84(5):651-657(IF:12.3)52.YangT,SmithR.J#.Thec.-103T>Cvariantinthe5'-UTRofSLC26A4gene:apathogenicmutationorcoincidentalpolymorphism?HumMutat,2009,30(10):1469-1470(IF:6.9)53.YangT,VidarssonH,Rodrigo-BlomqvistS,RosengrenSS,EnerbackS,SmithR.J#,TranscriptionalcontrolofSLC26A4isinvolvedinPendredsyndromeandnonsyndromicenlargementofvestibularaqueduct(DFNB4).AmJHumGenet,2007,80(6):1055-1063(IF:11.1)54.YangT,PfisterM,BlinN,ZennerHP,PuschCM,SmithRJ#.GeneticheterogeneityofdeafnessphenotypeslinkedtoDFNA4.AmJMedGenetA.,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...
擅长: 耳聋遗传咨询与基因检测
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