| 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 | 68 | 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 | 47 | 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 | 43 | 2017 |
| 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), 1-11, 2017 | 29 | 2017 |
| 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 | 22 | 2018 |
| 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 | 17 | 2020 |
| 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, 103530, 2021 | 15 | 2021 |
| 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 | 15 | 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 | 14 | 2016 |
| De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca JSJ Hsu, M So, CSM Tang, A Karim, RM Porsch, C Wong, M Yu, F Yeung, ... Human Molecular Genetics 27 (2), 351-358, 2018 | 9 | 2018 |
| 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 | 7 | 2019 |
| 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 | 5 | 2020 |
| 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 | 5 | 2019 |
| 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 | |
| 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 | 3 | 2022 |
| Comprehensive etiologic analyses in pediatric cochlear implantees and the clinical implications CY Lee, PH Lin, CY Tsai, YT Chiang, HP Chiou, KY Chiang, PL Chen, ... Biomedicines 10 (8), 1846, 2022 | 2 | 2022 |
| The genetic risk underlying synapse plasticity and neuroinflammation in Major Depressive Disorder (MDD): a joint Whole Exome Sequencing (WES) and structural MRI study Y Zhang, M Li, J Hsu, Q Wang, P Sham, T Li European Neuropsychopharmacology 29, S847, 2019 | 1 | 2019 |
| 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 | | 2022 |
| Evaluating the analytical validity of mutation calling pipeline for tumor whole exome sequencing C Cheng, JH Huang, JS Hsu bioRxiv, 2022.11. 17.516840, 2022 | | 2022 |
| Complete genomic profiles of 1,496 Taiwanese reveal curated medical insights DC Wu, JSJ Hsu, CY Chen, SH Shih, JF Liu, YC Tsai, TL Lee, WA Chen, ... medRxiv, 2021.12. 23.21268291, 2021 | | 2021 |
Pak ShamDepartment of Psychiatry, The University of Hong KongVerified email at hku.hk
