第 1 到 20 筆結果,共 20 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2024 | Complete genomic profiles of 1496 Taiwanese reveal curated medical insights | Jacob 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 Research | 0 | ||
2 | 2023 | Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment | Chiang 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 : JMD | 0 | 0 | |
3 | 2023 | Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases | Chen, 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 Pediatrics | 1 | 0 | |
4 | 2023 | Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss | Lee, 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 Surgery | 2 | 0 | |
5 | 2023 | Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population | Lee, 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 | Genes | 0 | 0 | |
6 | 2022 | Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing | Lee, 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 Medicine | 3 | 2 | |
7 | 2022 | Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications | Lee, 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-Jen | Biomedicines | 4 | 5 | |
8 | 2022 | Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study | PEI-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 | Biomedicines | 11 | 5 | |
9 | 2022 | Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite | Lin, 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 Immunology | 1 | 1 | |
10 | 2021 | Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism | Lam, 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-Hang | EBioMedicine | 25 | 27 | |
11 | 2020 | A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder | Zhang, Yamin; Li, Mingli; Wang, Qiang; Jacob Shujui Hsu ; Deng, Wei; Ma, Xiaohong; Ni, Peiyan; Zhao, Liansheng; Tian, Yang; Sham, Pak Chung; Li, Tao | Psychological Medicine | 20 | 19 | |
12 | 2019 | Cancer gene mutations in congenital pulmonary airway malformation patients | Jacob 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-Mercè | ERJ Open Research | 14 | 10 | |
13 | 2019 | Plectin Mutations in Progressive Familial Intrahepatic Cholestasis | Wu 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 | Hepatology | 10 | 7 | |
14 | 2018 | Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing | Tang, 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, MM | European Journal of Human Genetics | 17 | 17 | |
15 | 2018 | De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca | Jacob 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, MM | Human Molecular Genetics | 7 | 8 | |
16 | 2017 | The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review | Pang, SYY; Teo, KC; Jacob Shujui Hsu ; Chang, RSK; Li, MX; Sham, PC; Ho, SL | Translational Neurodegeneration | 27 | 22 | |
17 | 2017 | Burden of rare variants in ALS genes influences survival in familial and sporadic ALS | Pang, SYY; Jacob Shujui Hsu ; Teo, KC; Li, Y; Kung, MHW; Cheah, KSE; Chan, D; Cheung, KMC; Li, MX; Sham, PC; Ho, SL | Neurobiology of Aging | 42 | 38 | |
18 | 2017 | Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework | Li, MX; Li, J; Li, MLJ; Pan, ZC; Jacob Shujui Hsu ; Liu, DJJ; ZHEN-XUN WU; Wang, JW; Song, YQ; Sham, PC | Nucleic Acids Research | 36 | 40 | |
19 | 2016 | Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes | Jacob Shujui Hsu ; Kwan, JS; Pan, ZC; Garcia-Barcelo, MM; Sham, PC; Li, MX | Bioinformatics | 9 | 9 | |
20 | 2008 | Two distinct arsenite-resistant variants of Leishmania amazonensis take different routes to achieve resistance as revealed by comparative transcriptomics | Lin, YC; Hsu, JY; Jacob Shujui Hsu ; Chi, Y; Chiang, SC; Lee, ST | Molecular And Biochemical Parasitology | 6 | 3 |