| GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 183 | 2021 |
| Burden of rare variants in ALS genes influences survival in familial and sporadic ALS SYY Pang, JS Hsu, KC Teo, Y Li, MHW Kung, KSE Cheah, D Chan, ... Neurobiology of aging 58, 238. e9-238. e15, 2017 | 65 | 2017 |
| Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework M Li, J Li, MJ Li, Z Pan, JS Hsu, DJ Liu, X Zhan, J Wang, Y Song, ... Nucleic acids research 45 (9), e75-e75, 2017 | 49 | 2017 |
| Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism WY Lam, CSM Tang, MT So, H Yue, JS Hsu, PHY Chung, JM Nicholls, ... EBioMedicine 71, 2021 | 45 | 2021 |
| The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review SYY Pang, KC Teo, JS Hsu, RSK Chang, M Li, PC Sham, SL Ho Translational neurodegeneration 6, 1-11, 2017 | 40 | 2017 |
| Cochlear implantation outcomes in patients with auditory Neuropathy Spectrum disorder of genetic and non-genetic etiologies: a Multicenter Study PH Lin, HP Wu, CM Wu, YT Chiang, JS Hsu, CY Tsai, H Wang, LH Tseng, ... Biomedicines 10 (7), 1523, 2022 | 25 | 2022 |
| A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder Y Zhang, M Li, Q Wang, JS Hsu, W Deng, X Ma, P Ni, L Zhao, Y Tian, ... Psychological Medicine 50 (3), 384-395, 2020 | 25 | 2020 |
| Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing CSM Tang, X Zhuang, WY Lam, ESW Ngan, JS Hsu, YU Michelle, ... European Journal of Human Genetics 26 (6), 818-826, 2018 | 25 | 2018 |
| Cancer gene mutations in congenital pulmonary airway malformation patients JS Hsu, R Zhang, F Yeung, CSM Tang, JKL Wong, MT So, H Xia, P Sham, ... ERJ Open Research 5 (1), 2019 | 23 | 2019 |
| Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes JS Hsu, JSH Kwan, Z Pan, MM Garcia-Barcelo, PC Sham, M Li Bioinformatics 32 (20), 3065-3071, 2016 | 17 | 2016 |
| Plectin mutations in progressive familial intrahepatic cholestasis SH Wu, JS Hsu, HL Chen, MM Chien, JF Wu, YH Ni, BY Liou, MC Ho, ... Hepatology 70 (6), 2221-2224, 2019 | 12 | 2019 |
| Genetic underpinnings and audiological characteristics in children with unilateral sensorineural hearing loss CY Lee, PH Lin, YT Chiang, CY Tsai, SY Yang, YM Chen, CH Li, CY Lu, ... Otolaryngology–Head and Neck Surgery 169 (5), 1299-1308, 2023 | 8 | 2023 |
| Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing CY Lee, MY Lo, YM Chen, PH Lin, CJ Hsu, PL Chen, CC Wu, JS Hsu Molecular Genetics & Genomic Medicine 10 (12), e2082, 2022 | 8 | 2022 |
| variant2literature: full text literature search for genetic variants YH Lin, YC Lu, TF Chen, JS Hsu, KH Lee, YW Cheng, YC Chen, JS Fan, ... bioRxiv, 583450, 2019 | 8 | 2019 |
| Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite MJ Lin, YC Lin, NC Chen, AC Luo, SK Lai, CL Hsu, JS Hsu, CY Chen, ... Frontiers in Immunology 13, 922513, 2022 | 7 | 2022 |
| Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases CB Chen, JS Hsu, PL Chen, JF Wu, HY Li, BY Liou, MH Chang, YH Ni, ... The Journal of Pediatrics 258, 113408, 2023 | 6 | 2023 |
| The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review. Transl Neurodegener. 2017; 6 (1): 27 SYY Pang, KC Teo, JS Hsu, RSK Chang, M Li, PC Sham, SL Ho | 5 | |
| Complete genomic profiles of 1496 Taiwanese reveal curated medical insights JS Hsu, DC Wu, SH Shih, JF Liu, YC Tsai, TL Lee, WA Chen, YH Tseng, ... Journal of Advanced Research 66, 197-207, 2024 | 3 | 2024 |
| Genetic diversity and structural complexity of the killer-cell immunoglobulin-like receptor gene complex: A comprehensive analysis using human pangenome assemblies TK Hung, WC Liu, SK Lai, HW Chuang, YC Lee, HY Lin, CL Hsu, ... bioRxiv, 2023.11. 12.566753, 2023 | 3 | 2023 |
| Profiling germline adaptive immune receptor repertoire with gAIRR suite MJ Lin, YC Lin, NC Chen, AC Luo, SK Lai, CL Hsu, JS Hsu, CY Chen, ... bioRxiv, 2020.11. 27.399857, 2020 | 3 | 2020 |
Pak ShamDepartment of Psychiatry, The University of Hong Kong在 hku.hk 的电子邮件经过验证
