研究成果

第 1 到 20 筆結果，共 20 筆。

公開日期標題作者來源出版物scopusWOS全文
12024Complete genomic profiles of 1496 Taiwanese reveal curated medical insightsJacob Shujui Hsu ; Wu, Dung Chi; Shih, Shang Hung; Liu, Jen Feng; Tsai, Ya Chen; Lee, Tung Lin; Chen, Wei An; Tseng, Yi Hsuan; Lo, Yi Chung; Lin, Hong Ye; Chen, Yi Chieh; Chen, Jing Yi; Chou, Ting Hsuan; Chang, Darby Tien Hao; Su, Ming Wei; Guo, Wei Hong; Mao, Hsin Hsiang; CHIEN-YU CHEN ; PEI-LUNG CHEN Journal of Advanced Research0
22023Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing ImpairmentChiang Yu-ting; PEI-HSUAN LIN ; Lo, Ming-Yu; HSIN-LIN CHEN ; Lee, Chen-Yu; Tsai, Cheng-Yu; Lin, Yin-Hung; Tsai, Shih-Feng; TIEN-CHEN LIU ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; Jacob Shujui Hsu ; CHEN-CHI WU The Journal of molecular diagnostics : JMD00
32023Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver DiseasesChen, Chi-Bo; Jacob Shujui Hsu ; PEI-LUNG CHEN ; JIA-FENG WU ; Li, Huei-Ying; Liou, Bang-Yu; MEI-HWEI CHANG ; YEN-HSUAN NI ; WUH-LIANG ​​HWU ; YIN-HSIU CHIEN ; Chou, Yen-Yin; Yang, Yao-Jong; NI-CHUNG LEE ; HUEY-LING CHEN The Journal of Pediatrics10
42023Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing LossLee, Chen-Yu; PEI-HSUAN LIN ; Chiang Yu-ting; Tsai, Cheng-Yu; Yang, Shu-Yu; Chen, You-Mei; Li, Chao-Hsuan; CHUN-YI LU ; TIEN-CHEN LIU ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; Jacob Shujui Hsu ; CHEN-CHI WU Otolaryngology - Head and Neck Surgery20
52023Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese PopulationLee, Yen-Hui; Tsai, Cheng-Yu; Lu, Yue-Sheng; PEI-HSUAN LIN ; Chiang Yu-ting; TING-HUA YANG ; Jacob Shujui Hsu ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; TIEN-CHEN LIU ; CHEN-CHI WU Genes00
62022Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencingLee, Chen-Yu; Lo, Ming-Yu; Chen, You-Mei; PEI-HSUAN LIN ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; CHEN-CHI WU ; Jacob Shujui Hsu Molecular Genetics & Genomic Medicine32
72022Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical ImplicationsLee, Chee-Yee; PEI-HSUAN LIN ; Tsai, Cheng-Yu; Chiang Yu-ting; Chiou, Hong-Ping; Chiang, Ko-Yin; PEI-LUNG CHEN ; Jacob Shujui Hsu ; TIEN-CHEN LIU ; Wu, Hung-Pin; CHEN-CHI WU ; Hsu, Chuan-JenBiomedicines45
82022Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter StudyPEI-HSUAN LIN ; Wu, Hung-Pin; Wu, Che-Ming; Chiang, Yu-ting; Jacob Shujui Hsu ; Tsai, Cheng-Yu; Wang, Han; Tseng, Li-Hui; Chen, Pey-Yu; TING-HUA YANG ; Hsu, Chuan-Jen; PEI-LUNG CHEN ; CHEN-CHI WU ; TIEN-CHEN LIU Biomedicines105
92022Profiling genes encoding the adaptive immune receptor repertoire with gAIRR SuiteLin, Mao-Jan; Lin, Yu-Chun; Chen, Nae-Chyun; Luo, Allen Chilun; Lai, Sheng-Kai; Hsu, Chia-Lang; Jacob Shujui Hsu ; Chen, Chien-Yu; WEI-SHIUNG YANG ; PEI-LUNG CHEN Frontiers in Immunology11
102021Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismLam, Wai-Yee; Tang, Clara Sze-Man; So, Man-Ting; Yue, Haibing; Jacob Shujui Hsu ; Chung, Patrick Ho-Yu; Nicholls, John M; Yeung, Fanny; Lee, Chun-Wai Davy; Ngo, Diem Ngoc; Nguyen, Pham Anh Hoa; Mitchison, Hannah M; Jenkins, Dagan; O'Callaghan, Christopher; Garcia-Barceló, Maria-Mercè; Lee, So-Lun; Sham, Pak-Chung; Lui, Vincent Chi-Hang; Tam, Paul Kwong-HangEBioMedicine2527
112020A joint study of whole exome sequencing and structural MRI analysis in major depressive disorderZhang, Yamin; Li, Mingli; Wang, Qiang; Jacob Shujui Hsu ; Deng, Wei; Ma, Xiaohong; Ni, Peiyan; Zhao, Liansheng; Tian, Yang; Sham, Pak Chung; Li, TaoPsychological Medicine2019
122019Plectin Mutations in Progressive Familial Intrahepatic CholestasisWu S.-H.; Jacob Shujui Hsu ; HUEY-LING CHEN ; Chien M.-M.; JIA-FENG WU ; YEN-HSUAN NI ; Liou B.-Y.; MING-CHIH HO ; YUNG-MING JENG ; MEI-HWEI CHANG ; PEI-LUNG CHEN Hepatology107
132019Cancer gene mutations in congenital pulmonary airway malformation patientsJacob Shujui Hsu ; Zhang, Ruizhong; Yeung, Fanny; Tang, Clara S.M.; Wong, John K.L.; So, Man-Ting; XIAO-GANG HE; Sham, Pak; Tam, Paul K.; Li, Miaoxin; Wong, Kenneth K.Y.; Garcia-Barcelo, Maria-MercèERJ Open Research1410
142018Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencingTang, CSM; ZHEN-XUN WU; Lam, WY; Ngan, ESW; Jacob Shujui Hsu ; Michelle, Y; Man-Ting, S; Cherny, SS; NING-NING PANG; Sham, PC; Tam, PKH; Garcia-Barcelo, MMEuropean Journal of Human Genetics1717
152018De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloacaJacob Shujui Hsu ; So, MT; Tang, CSM; KATHERINE ANN KIM; Porsch, RM; Wong, C; Yu, M; Yeung, F; XIAO-GANG HE; Zhang, RZ; Cherny, SS; Chung, PHY; Wong, KKY; Sham, PC; NING-NING PANG; Li, MX; Tam, PKH; VIVIAN LIAO; Garcia-Barcelo, MMHuman Molecular Genetics78
162017The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a reviewPang, SYY; Teo, KC; Jacob Shujui Hsu ; Chang, RSK; Li, MX; Sham, PC; Ho, SLTranslational Neurodegeneration2722
172017Burden of rare variants in ALS genes influences survival in familial and sporadic ALSPang, SYY; Jacob Shujui Hsu ; Teo, KC; Li, Y; Kung, MHW; Cheah, KSE; Chan, D; Cheung, KMC; Li, MX; Sham, PC; Ho, SLNeurobiology of Aging4238
182017Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative frameworkLi, MX; Li, J; Li, MLJ; Pan, ZC; Jacob Shujui Hsu ; Liu, DJJ; ZHEN-XUN WU; Wang, JW; Song, YQ; Sham, PCNucleic Acids Research3640
192016Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genesJacob Shujui Hsu ; Kwan, JS; Pan, ZC; Garcia-Barcelo, MM; Sham, PC; Li, MXBioinformatics99
202008Two distinct arsenite-resistant variants of Leishmania amazonensis take different routes to achieve resistance as revealed by comparative transcriptomicsLin, YC; Hsu, JY; Jacob Shujui Hsu ; Chi, Y; Chiang, SC; Lee, STMolecular And Biochemical Parasitology63