主持/参与的课题： 1. 国家自然科学基金面上项目，82572117，FOXK2突变导致骨骼肌发育障碍的机制及基因治疗研究，2026/01-2029/12，49万元，主持，在研； 2. 上海市自然科学基金面上项目, 24ZR1409400, 转录因子FOXK2突变在上睑下垂相关先天性肌病发生中的作用及机制研究, 2024-10 至 2027-09，20万元，参与，在研； 3. 上海市自然科学基金面上项目，23ZR409400，FOXI3调控表皮中细胞因子的表达和分泌影响耳廓软骨发育的机制研究，2023/4-2026/3，20万元，主持，在研； 4. 国家自然科学基金面上项目，82271889，转录因子FOXI3突变在先天性小耳畸形发生中的作用及致病机制研究，2023/01-2026/12，50万元，主持，在研； 5. 科技部国家重点研发项目, 2021YFC2701000, 儿童结构性出生缺陷防控和救助体系的构建及示范应用, 2021/12 -2024/11, 2770万元 (68万元), 科研骨干，结题； 6. 国家自然科学基金青年项目，81801501，染色体结构维护蛋白3突变影响纺锤体组装导致心脏发育异常的分子机制，2019/01-2021/12，21万元，主持，结题； 7. 中国博士后科学基金面上资助项目，2018M632026，先心病法四综合征中下调的TBX5-AS1:2影响心脏发育的分子机制，2018/07-2019/05，5万元，主持，结题； 8. 国家自然科学基金面上项目，81770111，lncRNA-HBBP1通过调控珠蛋白加重β地中海贫血的分子机制，2018/01-2021/12，55万元，主要参与人，结题； 9. 国家自然科学基金面上项目，81570286，WDR62突变导致心脏发育异常的分子机制，2016/01-2019/12，60万元，主要参与人，结题。 代表性SCI论文（一作/通讯）： 1.Jing Ma# , Likuan Xiong , Yu Chang , Xiangyi Jing , Weijun Huang , Bin Hu , Xinchong Shi , Weiping Xu , Yiming Wang , Xunhua Li .Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum. Parkinsonism Relat Disord. 2014 Feb;20(2):256-259. 2. Ma J#, Yang J, Jian W, Wang X, Xiao D, Xia W, Xiong L, Ma D. A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer. J Cancer Res Clin Oncol. 2017 Apr;143(4):631-637. 3. Ma J#, Liu F, Du X, Ma D, Xiong L.Changes in lncRNAs and related genes in β-thalassemia minor and β-thalassemia major. Front Med. 2017 Mar;11(1):74-86. 4. Ma J#, Chen Q, Ma D. Biological Functions and Research Methods of Long Noncoding RNAs. Reprod Dev Med,2017,1(1): 23-29. 5. Yang J, Ma J#, Xiong Y, Wang Y, Jin K, Xia W, Chen Q, Huang J, Zhang J, Jiang N, Jiang S, Ma D. Epigenetic regulation of megakaryocytic and erythroid differentiation by PHF2 histone demethylase. J Cell Physiol. 2018;233(9):6841-6852. 6. Li S, Ma J#, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R. The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer. J Breast Cancer. 2018;21(3):330-333. 7. Hao L, Li S, Ma D, Chen S, Zhang B, Xiao D, Zhang J, Jiang N, Jiang S, Ma J*, Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis, J Cell Mol Med, 2019,23(6):4454-4463. 8. Xia W, Hu J, Ma J#, Huang J, Jing T, Deng L, Zhang J, Jiang N, Ma D, Ma Z.Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway. FEBS Lett. 2019 Aug;593(15):2008-2018. 9. Xia W, Hu J, Ma J#, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D. Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. Clin Genet. 2019 Oct; 96(4):300-308. 10. Ma J#, Shiyu Chen, Lili Hao, Wei Sheng, WeiCheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang. Hypermethylation mediated Downregulation of lncRNA TBX5-AS1:2 in Tetralogy of Fallot inhibits Cells Proliferation by reducing TBX5 expression. J Cell Mol Med. 2020 Jun;24(11):6472-6484. 11. Xu J, Ma J#, Shi Y, Yin D, Zhang Y, Dai P, Zhao W, Zhang T.Differential Protein Expression between Cystic and Solid Vestibular Schwannoma Using Tandem Mass Tag-Based Quantitative Proteomic Analysis. Proteomics Clin Appl.2020 Mar 11:e1900112. 12. Jing T, Ma J#, Zhao H, Zhang J, Jiang N, Ma D.MAST1 modulates neuronal differentiation and cell cycle exit via P27 in neuroblastoma cells. FEBS Open Bio. 2020 Jun; 10(6):1104-1114. 13. Ma J#, Shiyu Chen, Lili Hao, Wei Sheng, WeiCheng Chen, Xiaojing Ma, Bowen Zhang, Duan Ma, Guoying Huang. Long non-coding RNA SAP30-2:1 downregulated in congenital heart disease regulates cells proliferation by targeting HAND2. Front Med. 2021 Feb;15(1):91-100. 14. Jing Zhang , Ninghua Liu , Xiufa Wu , Peixuan Wu , Nan Song , Jing Ma* . Identification of differentially expressed circular RNAs in keloid and normal skin tissue by high-throughput sequencing. Dermatol Ther. 2021 Mar;34(2):e14745.. 15. Shiyu Chen, Zhonglin Jia, Ming Cai, Mujie Ye, Dandan Wu, Teng Wan, Bowen Zhang, Peixuan Wu, Yuexin Xu, Jiang Xin, Yuntao Guo, Chan Tian, Duan Ma, Jing Ma*. SP1-mediated upregulation of long non-coding RNA ZFAS1 involved in non-syndromic cleft lip and palate via inactivating WNT/β-catenin signalling pathway. Front. Cell Dev Biol. 2021 Jun 29;9:662780. 16. Yuexin Xu, Jing Ma # , Guohua Xu, Duan Ma. Recent advances in the epigenetics of bone metabolism. J Bone Miner Metab. 2021;39(6):914-924. 17. Jing Zhang ,Xiufa Wu ,Jing Ma * . A new transnasal approach of Nd:YAG laser treating nasolabial cysts. Lasers Med Sci. 2021 Aug 11. 18. Nan Song,Tong Hua, Jing Ma *, Jing Zhang.Case Series of Laser Therapy of Eyelid Peripunctal Benign Tumor. Photobiomodul Photomed Laser Surg. 2021;39(10):661-664. 19. Peixuan Wu , Jing Ma #, Tianyu Zhang , Duan Ma.Advances in the Genetics of Congenital Ptosis. Ophthalmic Res.2022;65(2):131-139. 20. Ma J#, Zhang Y, Yan Z, Wu P, Li C, Yang R, Lu X, Chen X, He A, Fu Y, Ma D, Tian W, Zhang T. Single-cell transcriptomics reveals pathogenic dysregulation of previously unrecognised chondral stem/progenitor cells in children with microtia. Clin Transl Med. 2022 Feb;12(2):e702. 21. Xu Y, Bao X, Chen X, Wu P, Chen S, Zhang B, Ma J*, Xu G, Ma D. STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/β-catenin pathway via binding to Annexin A2 in osteoporosis. J Cell Mol Med. 2022 Mar;26(5):1643-1655. 22. Chen S, Li H, Zheng J, Hao L, Jing T, Wu P, Zhang B, Ma D, Zhang J, Ma J*. Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing. Dis Markers. 2022 Mar 4;2022:5344508. 23. Ye M, Gao R, Chen S, Wei M, Wang J, Zhang B, Wu S, Xu Y, Wu P, Chen X, Ma J*, Ma D, Dong K. Downregulation of MEG3 and upregulation of EZH2 cooperatively promote neuroblastoma progression. J Cell Mol Med. 2022 Apr;26(8):2377-2391. 24. Chen X, Xu Y, Li C, Lu X, Fu Y, Huang Q, Ma D, Ma J*, Zhang T. Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics. ACS Omega. 2022 May 13;7(20):16917-16927. 25. Hao L, Ma J#, Wu F, Ma X, Qian M, Sheng W, Yan T, Tang N, Jiang X, Zhang B, Xiao D, Qian Y, Zhang J, Jiang N, Zhou W, Chen W, Ma D, Huang G. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clin Transl Med. 2022 Jul;12(7):e941. 26. Zhang B, Zhang Y, Wu S, Ma D, Ma J*. DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole-genome bisulfite sequencing. Birth Defects Res. 2022 Oct 9. 27. Ma S, Zhu X, Li D, Yang F, Meng J, Jiang Y, Ma J*, Lu Y. The Differential Expression of Circular RNAs and the Role of circAFF1 in Lens Epithelial Cells of High-Myopic Cataract. J Clin Med. 2023 Jan 19;12(3):813. 28. Chen L, Li C, He A, Tong H, Lu X, Yang R, Chen X, Wu X, Wang X, Wang S, Ma J*, Fu Y, Zhang T. Changes of Age-related Auricular Cartilage Plasticity and Biomechanical Property in a Rabbit Model. Laryngoscope. 2023 Jan;133(1):88-94. 29. Zhang J, Bao Q, Song N, Li C, Ma J*. The upregulation of circFoxp1 influences keloid by promoting cell proliferation. Aging (Albany NY). 2023 Nov 21;15. 30.Wang X, Wu P, Fu Y, Yang R, Li C, Chen Y, He A, Chen X, Ma D, Ma J*, Zhang T. The circular RNA expression profile of human auricle cartilage and the role of circCOL1A2 in isolated microtia. Cell Signal. 2023 Dec 18:111017. 31. Chen X, Ma J#, Zhang T. Genetics and Epigenetics in the Genesis and Development of Microtia. J Craniofac Surg. 2024 Feb 12. 32. Yang R, Fu Y, Li C, Chen Y, He A, Jiang X, Ma J*, Zhang T. Profiling of Long Non-Coding RNAs in Auricular Cartilage of Patients with Isolated Microtia. Genet Test Mol Biomarkers. 2024 Feb;28(2):50-58. 33. Chen Y, Yang R, Chen X, Lin N, Li C, Fu Y, He A, Wang Y, Zhang T, Ma J*. Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. Mol Genet Genomic Med. 2024 Apr;12(4):e2426. 34. Xiao Y, Ding T, Fang H, Lin J, Chen L, Ma D, Zhang T, Cui W, Ma J*. Innovative Bio-based Hydrogel Microspheres Micro-Cage for Neutrophil Extracellular Traps Scavenging in Diabetic Wound Healing. Adv Sci (Weinh). 2024 Apr 6:e2401195. 35. Xiao Yongqiang，Fang He，Wang Xin  Liu Ming，  Shen Tuo， Zhang Mei， Xia Zhaofan Leong Kam， Ma Duan， Ma Jing*， Tu Zhaoxu， Zhang Tianyu. Modulation of Unregulated Inflammation‐Associated Coagulopathy in Sepsis Using Multifunctional Nanosheets. Advanced Functional Materials. 10.1002/adfm.202402785. 36. Ding T, Xiao Y, Saiding Q, Li X, Chen G, Zhang T, Ma J*, Cui W. Capture and Storage of Cell-free DNA via Bio-informational Hydrogel Microspheres. Adv Mater. 2024 Jun 17:e2403557. 37. Zhang B, Zhu Y, Zhang Z, Wu F, Ma X, Sheng W, Dai R, Guo Z, Yan W, Hao L, Huang G, Ma D, Hao B, Ma J*. SMC3 contributes to heart development by regulating super-enhancer associated genes. Exp Mol Med. 2024 Aug 1. 38. Yang R, Chen X, Wu S, Li C, Chen Y, Fu Y, He A, Ma D, Ma J*, Zhang T. HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia. Genes Dis. 2024 Jun 25;12(3):101367. 39. Han W, Yang R, Chen X, Chen Y, Zhang T, Ma J*. A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2. Hum Mol Genet. 2025 Jan 24:ddaf010. 40. Chen X, Yang R, Zhang T, Ma J*. The novel role of foxi3 in zebrafish mandibular development. Cells Dev. 2025 Feb 28:204016. 41. Chen X, Chen Y, Li C, Yang R, Chen Y, Zhang T, Zhu Y, Ma J*. Identification and functional characterization of pathogenic FOXI3 variants in craniofacial microsomia. J Genet Genomics. 2025 Mar 1:S1673-8527(25)00057-8. 42. Jiawei Lin, Luhan Bao, Juan Wang, Tianyu Zhang, Wenguo Cui, Jing Ma*. Guiding Microbial Distribution by Regulating Oxygen Supply for the Fabrication of Integrated Artificial Auricles. Advanced Functional Materials.06 March 2025 43. Wu S, Chen X, Chen Y, Li C, Yang R, Zhang T,  Jing Ma*. Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees. Hum Mol Genet. 2025 Apr 25:ddaf063. 44. Chen Y, Yang R, Chen X, Zhang T, Li C, Jing Ma*. Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. Orphanet J Rare Dis. 2025 Apr 16;20(1):184. 45. Wu P, Song N, Xiang Y, Tao Z, Mao B, Guo R, Wang X, Wu D, Zhang Z, Chen X, Ma D, Zhang T, Hao B, Jing Ma*. FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis. EMBO Mol Med. 2025 May 23. 46. Chen Y, Yang R, Chen Y, Zhang T, Ma J*. Simultaneous MT-RNR1 and MYO15A mutations in a family with non-syndromic hearing loss. J Int Adv Otol. 2025, 21(5), 1817. 47. Yang R, Han W, Wang L, Chen X, Chen Y, Li B, Qian M, Liu D*, Zhang T*, Ma J*. Pathogenic variants in GBX2 cause craniofacial microsomia. Genes Dis, 2025,101814,ISSN 2352-3042. 48.Chen X, Wu S, Chen Y, Li C, Feng X, Fu Y, Zhu Y, Chen Y, Chen L, Yang R, Dai R, Zhang J, He A, Wang X, Ma D, Hao B, Zhang T, Ma J. FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages. Bone Res. 2026 Feb 4;14(1):16. 发表的中文期刊： 1. 张天宇，陈鑫，马竞。先天性外中耳畸形 (14)—— 遗传学和表观遗传学研究进展 [J]. 听力学及言语疾病杂志，2021,29 (02):147-150. 2. 马竞#，周文浩。新生儿常见小耳畸形相关综合征的遗传特征 [J]. 中国当代儿科杂志，2022, 24 (6): 614 - 619. 3. 杨润，朱雅颖，马竞*，张天宇。鳃 - 耳 - 肾谱系疾病的临床与遗传学进展 [J]. 中国眼耳鼻喉科杂志，2022, 24 (7): 671 - 676. 4. 马诗雨，马竞，李丹，卢奕。环状 RNA 与白内障关系的研究进展 [J]. 中华眼科杂志，2022 (3): 185 - 188. 5. 舒易来，范新泰，高子雯，王大奇，程晓婷，吕俊，胡纯纯，徐条，周旭妍，郭奉，马竞，张剑宁，陶永，孙珊，杨美梦，胡炯炯，蔡宇加，李大力，李耕林，杨军，戴春富，张天宇，洪佳旭，马兆鑫，黄新生，向明亮，时海波，陈兵，王武庆，陈正一，殷善开，吴皓，王正敏，李华伟。遗传性耳聋基因治疗专家共识 (2023, 上海)[J]. 中国眼耳鼻喉科杂志，2024, 24 (1): 1 - 6. 6. 陈颖，杨润，林奈尔，余庆雄，陈鑫，张天宇，马竞*. PAX1基因新杂合突变导致的伴发新表型的常染色体显性遗传耳 - 面 - 颈综合征 2 型 [J]. 中华耳鼻咽喉头颈外科杂志，2025, 60 (7) 参编著作： 1.临床遗传学，2013年，上海科学技术出版社； 2.遗传病相关个体化医学检测技术指南（试行），2015年，国家卫生计生委医政医管局发布； 3.遗传病分子基础与基因诊断，2017年，上海科学技术出版社； 4.临床遗传学，2018年，人民卫生出版社； 5.今日遗传咨询，2019年，人民卫生出版社； 6.表观遗传学，2023， 科学出版社； 7.耳畸形整复外科学，2024，人民卫生出版社； 8.医学遗传学基础与进展，2024年，北京，科学出版社； 9.实用妇科肿瘤遗传学，2025年，北京，人民卫生出版社； 10.医学遗传学，2025年 北京，科学出版社。