過去與目前正在進行的研究計畫：​

• 89年度：提昇私大研發能量專案~遺傳疾病研究中心(1/3) (國科會)

• 89年度：遺傳性聽障之研究-學習語言前非症候群感音神經聽障 (國科會)

• 90年度：遺傳疾病研究中心(2/3) (國科會)

• 90年度：遺傳性聽障之研究─學習語言前非症候群感音神經聽障(2/3)(國科會)

• 91年度：遺傳性聽障之研究─學習語言前非症候群感音神經聽障(3/3) (國科會)

• 91年度：遺傳疾病研究中心(3/3) (國科會)

• 92年度：學習語言前非症候群感音神經聽障病因的探討 (國科會)

• 92年度：遺傳性聽障之基因檢查及諮詢服務計畫：學習語言前非症候群感音神經聽障患者之基因檢查與家族追蹤及遺傳諮詢研究

• 93年度：遺傳性聽障之基因檢查及遺傳諮詢服務第二年計畫：聽障患者之基因檢查與家族追蹤及遺傳諮詢研究

• 93年度：學習語言前非症候群感音神經性聽障基因功能分析 (國科會)

• 94年度：造成聽障之Connexin基因族與CLAUDIN14基因突變的(國科會)

• 95年度：探討connexin基因beta群在學習語言前非症候群性聽障中所扮演的功能角色(國科會)

• 96年度：非症候群聽障病因之探討:CONNEXIN29(GJE1)和CLAUDIN 14基因突變之功能研究(國科會)

• 97年度：非症候群聽障病因之探討:CONNEXIN29(GJE1)和CLAUDIN 14基因突變之功能研究(國科會)

• 98年度：聽障基因TMPRSS3突變之功能分析(1/3)(科技部)

• 99年度：聽障基因TMPRSS3突變之功能分析(2/3)(科技部)

• 100年度：聽障基因TMPRSS3突變之功能分析(3/3)(科技部)

• 101年度：利用細胞模式探討TMPRGSS3基因的突變造成聽障的成因(科技部)

• Jiann-Jou Yang, Wen-Hung Wang, Yen-Chun Lin, Hsu-Huei Weng, Jen-Tsung Yang, Chung-Feng Hwang, Che-Min Wu, Shuan-Yow Li* (2010) "Prospective variants screening of connexin genes in children with hearing impairment: Genotype/Phenotype Correlation" Human Genetics 128:303-313

• Hong H-M1, Yang J-J1, Shieh J-C, Li M-L , Li S-Y (2010) "Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss" Human Genetics 127: 545-551 (1:Co-first Author).

• Hong H-M1, Yang J-J1, Su C-C, Chang J-Y, Li T-C, Li S-Y (2010) "A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss" Human Genetics 127: 191-199 (1: Co-first Author)

• Su C-C, Li S-Y, Su M-C, Chen W-C, Yang J-J* (2010)"Mutation R184Q of connexin26 in hearing loss patients has adominant-negative effect on connexin 26 and connexin 30" European Journal of Human Genetics doi:10.1038/djhg.2010.50 (co-corresponding author)

• Wang W-H, Yang J-J, Lin Y-C, Yang J-T, Li S-Y(2010)” Novel expression patterns of connexin 30.3 in adult rat cochlea”Hearing Research doi:10.1016/j.heares.2010. 02.008

• Yang J-J1, Su1 M-C, Chien K-H , Hsin C-H, Li S-Y (2010) “Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss “ International Journal of Pediatric Otorhinolaryngology 74:489~493 (1: Co-first Author)

• Wang W-H, Yang J-J, Lin Y-C, Yang J-T, Chan C-H, Li S-Y. (2010) Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and RFLP method. Audiology and Neur-otology 15:81-87(SCI)

• Su T.-R, Chen C-h, Huang S-J, Lee C-Y, Su M-C, Chen G-H, Li S-Y, Yang J-J, Lin M-J. (2009) Functional study of the effect of phosphatase inhibitors on KCNQ4 channels expressed in Xenopus oocytes. Acta phar ma cologica Sinica 30(9):1220-1226. (SCI)

• Su M-C1, Yang J-J1, Su C-C, Hsin C-H, Li S-Y. (2009) Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from . International Journal of Pediatric Otorhinolaryngology 73: 811-815 (1: Co-first Author) (SCI)

• Lai Y.-C., Wang W.-C., Yang J.-J, Li S.-Y. (2009) Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. Journal of Assisted Reproduction and Genetics 26:257-261(SCI)

• Su M.-C., Yang J.-J., Chou M.-Y., Hsin C.-H., Su C.-C., Li S.-Y. (2008) Expression and localization of Tmie in adult rat cochlea. Histochemistry and Cell Biology 130: 119-126. (SCI)

• Yen Y.-C, Yang J.-J, Chou M.-C, Li S.-Y. (2008) Absence of OPTINEURIN (OPTN) gene mutations in Taiwanese patients with Juvenile-Onset Open-Angle Glauco ma . Molecular Vision 14: 487-494. (SCI)

• Yen Y.-C, Yang J.-J, Chou M.-C, Li S.-Y. (2007) Identification of mutations in the Myocilin (MYOC) gene of patients with Juvenile-Onset Open-Angle Glauco ma from . Molecular Vision 13: 1627-1634. (SCI)

• Yang J.-J, Huang S.-H., Chou K.-H., Liao P.-J., Su C.-C., Li S.-Y. (2007) Identification of mutations in members of connexin gene family as a cause of nonsyndromic deafness in . Audiology and Neur-otology 12:198-208 (SCI)

• Su C.-C., Yang J.-J., Shieh J.-C., Su M.-C., Li S.-Y. (2007) Identification of novel mutations in the KCNQ4 gene of patients with non-syndromic deafness from . Audiology and Neur-otology 12:20-26. . (SCI)

• Su C.-C., Li S.-Y., Yang J.-J., Chang M., Lin M.-J. (2006) Studies of the effect of ionomycin on the KCNQ4 channel expressed in Xenopus oocytes. Biochemical and Biophysical Research Communications 348: 295–300. (SCI)

• Yang J.-J., Liao P.-J., Su C.-C. and Li S.-Y. * (2005) Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea. Biochemical and Biophysical Research Communications 338: 723–728. . (SCI)

• Lai K.-C., Chen W.-C., Li S.-Y., Jeng L.-B., Chou M.-C., Tsai F.-J. (2005) Association of genetic polymorphisms of MK, IL-4, p16, p21, p53 genes and hu ma n gastric cancer in . European Journal of Surgical Oncology 31(10):1135-1140. . (SCI)

• Lai K.-C., Chen W.-C., Tsai F.-J., Li S.-Y., Jeng L.-B. (2005) Arginine and Proline alleles of the p53 gene are associated with different locations of gastric cancer. Hepato-Gastroenterology 52:944-948. (SCI)

• Lai K.-C., Chen W.-C., Tsai F.-J., Li S.-Y., Chou M.-C., Jeng L.-B (2005) Glutathione S-transferase M1 gene Null genotype and gastric cancer risk in Taiwan. Hepato-Gastroenterology 52:1-4. (SCI)

• Su M.-C., Lee S.-Y., Tan C.-T., Su C.-C., Li S.-Y., Lin R.-H., Hung C.-C. and Lin M.-J. (2005) “Taicatoxin inhibits the calcium-dependent slow motility of ma m ma lian outer hair cells” Hearing Research 203:172–179. (SCI)

• Wu T.-T., Tsai T.-W., Chu C.-T., Lee Z.-F., Hung C.-M, Su C.-C., Li S.-Y., Hsieh M. and Li C. (2005)” Low RET mutation frequency and polymorphism an aly sis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan” J Hum Genet 50:168~174. (SCI)

• Yang J.-J., Tsai C.-C., Hsu H.-M., Shiao J.-Y., Su C.-C. and Li S.-Y. *(2005) “Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene” Hearing Research 199: 22- 30. (SCI)

• Liu B.-H., Yu F.-Y., Wu T.-S., Li S.-Y, Su M.-C., Wang M.-C. and Shih S.-M. (2003) “Evaluation of Genotoxic Risk and Oxidative DNA Da ma ge in Mam ma lian Cells Exposed to Mycotoxins, Patulin and Citrinin.” Toxicology and Applied Phar ma cology 191: 255-263. (SCI)

• Hsiao K.-M, Chen S.-S, Li S.-Y, Chiang S.-Y., Lin H.-M, Pan H, Huang C-C, Kuo H.-C, Jou S.-B, Su C.-C, Ro L.-S, Liu C.-S, Lo M.-C, Chen C.-M and Lin C.-C (2003) “Epidemiological and Genetic Studies of Myotonic Dystrophy Type 1 in Taiwan.” Neuroepidemiology 22: 283-289. (SCI)

• Lin M.-J., Su M.-C., Tan C.-T., Su C.-C., Li S.-Y., Lin R.-H., Lin S., Shoei Y., Hung C.-C. and Lee S.-Y. (2003) “The effect of L-arginine on slow motility of ma m ma lian outer hair cell.” Hearing Research 178: 52-58. (SCI)

• Wang Y.-C., Kung C.-Y., Su M.-C., Su C.-C., Hsu H.-M., Tsai C.-C., Lin C.-C. and Li S.-Y. *(2002) “Mutations of Cx26 gene (GJB2) for prelingual deafness in ” Europ. J. of Hum. Genet. 10,495-49. . (SCI)

• Wang T.-S., Hsieh L.-J., Hsu T.-Y., Chung C.-H. and Li S.-Y. * (2002) “DNA Da ma ge and Repair in Lymphoblastoid Cell Lines from Nor ma l Donors and Fragile X Syndrome Patients” Arch. Med. Res. 33, 128-135. . (SCI)

• Li Y.C., Lee C., Chang W.S., Li S.Y., Lin C.C. (2002) “Isolation and identification of a novel satellite DNA family highly conserved in several Cervidae species”, Chromoso ma 111:176-183. . (SCI)

• Pan H., Li Y.-Y., Li T.-C., Tsai W.-T., Li S.-Y. and Hsiao K.-M. (2002) “Increased (CTG/CAG)n Lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients ” Hu ma n Reproduction 17(6),1578-1583. . (SCI)

• Pan H., Lin H.-M., Ku W.-Y., Li T.-C., Li S.-Y., Lin C.-C., and Hsiao K.-M. (2001) “Haplotype An aly sis of the Myotonic Dystrophy Type 1 (DM1) Locus in : implication for low pr eva lence and founder mutations of Taiwanese myotonic dystrophy type 1” Europ. J. Hum. Genet. 9, 638-641. . (SCI)onic dystrophy type 1” Europ. J. Hum. Genet. 9, 638-641. . (SCI)