张锋教授课题组一直致力于人类基因组拷贝数变异（CopyNumberVariation,CNV）及其致出生缺陷、不孕不育等疾病的基础和转化研究。已在NewEnglandJournalofMedicine,NatureGenetics,AJHG等高影响力期刊上发表SCI论文和综述72篇，累计被引用2942次。
药明康德生命化学杰出成就奖，2015全国妇幼健康科学技术奖自然科学一等奖（第三完成人），2015盖茨基金会“大挑战2015青年科学家”，2015中国出生缺陷干预救助基金会“青年学者奖”，2014华夏医学科技奖三等奖（第四完成人），2013
1.WuN*,MingX*,XiaoJ*,WuZ*,ChenX*,ShinawiM,ShenY,YuG,LiuJ,XieH,GucevZS,LiuS,YangN,Al-KatebH,ChenJ,ZhangJ,HauserN,ZhangT,TasicV,LiuP,SuX,PanX,LiuC,WangL,ShenJ,ShenJ,ChenY,ZhangT,ZhangJ,ChoyKW,WangJ,WangQ,LiS,ZhouW,GuoJ,WangY,ZhangC,ZhaoH,AnY,ZhaoY,WangJ,LiuZ,ZuoY,TianY,WengX,SuttonVR,WangH,MingY,KulkarniS,ZhongTP,GiampietroPF,DunwoodieSL,CheungSW,ZhangX,JinL,LupskiJR,QiuG#,ZhangF#(2015)TBX6NullVariantsandaCommonHypomorphicAlleleinCongenitalScoliosis.NewEnglandJournalofMedicine372:341-350.
2.ChenL,ZhouW,ZhangC,LupskiJR,JinL,ZhangF#(2015)CNVinstabilityassociatedwithDNAreplicationdynamics:evidenceforreplicativemechanismsinCNVmutagenesis.HumanMolecularGenetics24(6):1574-1583.
3.SunZ,LiuP,JiaX,WithersMA,JinL,LupskiJR,ZhangF#(2013)ReplicativemechanismsofCNVformationpreferentiallyoccurasintrachromosomalevents:evidencefromPotocki-Lupskiduplicationsyndrome.HumanMolecularGenetics22(4):749-756.
4.ZhangF,GuW,HurlesME,LupskiJR(2009)Copynumbervariationinhumanhealth,disease,andevolution.AnnualReviewofGenomicsandHumanGenetics10:451-481.
5.ZhangF,KhajaviM,ConnollyAM,TowneCF,BatishSD,LupskiJR(2009)TheDNAreplicationFoSTeS/MMBIRmechanismcangeneratehumangenomic,genic,andexoniccomplexrearrangements.NatureGenetics41(7):849-853.