Jacob Shujui Hsu
Jacob Shujui Hsu
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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