Publications by authors named "Jacob Hsu"

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Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.
Ting-Hsuan Chou, Pei-Miao Chien, Pin-Xuan Chen, Ni-Chung Lee, Hurng-Yi Wang, Jacob Shu-Jui Hsu

iScience· November 2025

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Spinal Cord Stimulation Improves Feedback Control of Reaching Post-Stroke.
Omar Refy, Luigi Borda, Jacob Hsu, Erick Carranza, Nikhil Verma

medRxiv· November 2025

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Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Yu-Shu Huang, Wen-Ting Lu, I-Hsuan Chiu, Pei-Miao Chien, Yu-An Chen, Jacob Shujui Hsu

Invest Ophthalmol Vis Sci· October 2025

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Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.
Li-Ling Lin, Pei-Miao Chien, Tzu-Hung Hsiao, Han-Yu Ye, Shu-Hsuan Liu, Jacob Shu-Jui Hsu

NPJ Genom Med· October 2025

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Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals.
Pin-Shiuan Chen, Yi-Ling Liu, Pu-Tien Chiang, Hsin-Hsi Tsai, Ming-Jen Lee, Cheng-Hsuan Li, Jacob Shujui Hsu

Mov Disord· September 2025

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Paternal age, de novo mutation, and age at onset among co-affected schizophrenia sib-pairs: whole-genome sequencing in multiplex families.
Yen-Chen A Feng, Wei J Chen, Mei-Chen Lin, Jacob Shujui Hsu, Chi-Fung Cheng

Mol Psychiatry· August 2025

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Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings.
Hsin-Fu Lin, Pei-Miao Chien, Chinyi Cheng, Tzu-Hang Yuan, Yu-Bin Wang, Jacob Shujui Hsu

J Mol Diagn· August 2025

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Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.
Yu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, Yu-Bin Wang, Tzu-Mao Hung, Jacob Shujui Hsu

Hum Genomics· June 2025

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Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
Bayasgalan Gombojav, Jargalkhuu Erdenechuluun, Tserendulam Batsaikhan, Narandalai Danshiitsoodol, Zaya Makhbal, Pei-Hsuan Lin, Jacob Shu-Jui Hsu

Int J Mol Sci· June 2025

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Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.
Pei-Hsuan Lin, Cheng-Yu Tsai, Yu-Ting Chiang, Chang-Han Ho, Yue-Sheng Lu, Jacob Shu-Jui Hsu, Chuan-Jen Hsu

Mol Med· May 2025

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Next-Generation Integrated Sequencing Identifies Poor Prognostic Factors in Patients with MYD88-Mutated Chronic Lymphocytic Leukemia in Taiwan.
Ying-Jung Huang, Jing Quan Lim, Jacob Shujui Hsu, Ming-Chung Kuo, Po-Nan Wang

Pathobiology· April 2025

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Comparisons of performances of structural variants detection algorithms in solitary or combination strategy.
De-Min Duan, Chinyi Cheng, Yu-Shu Huang, An-Ko Chung, Pin-Xuan Chen, Jacob Shujui Hsu

PLoS One· February 2025

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Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.
Jacob Shujui Hsu, Dung-Chi Wu, Shang-Hung Shih, Jen-Feng Liu, Ya-Chen Tsai, Yi-Hsuan Tseng, Ting-Hsuan Chou

J Adv Res· December 2024

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A novel framework for human leukocyte antigen (HLA) genotyping using probe capture-based targeted next-generation sequencing and computational analysis.
Sheng-Kai Lai, Allen Chilun Luo, I-Hsuan Chiu, Hui-Wen Chuang, Ting-Hsuan Chou, Jacob Shujui Hsu

Comput Struct Biotechnol J· December 2024

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Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.
Cheng-Yu Tsai, Jacob Shu-Jui Hsu, Pei-Lung Chen, Chen-Chi Wu

Expert Rev Mol Diagn· September 2024

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Genetic complexity of killer-cell immunoglobulin-like receptor genes in human pangenome assemblies.
Tsung-Kai Hung, Wan-Chi Liu, Sheng-Kai Lai, Hui-Wen Chuang, Yi-Che Lee, Chia-Lang Hsu, Jacob Shujui Hsu

Genome Res· September 2024

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Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study.
Fang-Yu Chang, Chu-Hsuan Huang, Chang-Hao Yang, Jung-Tzu Chang, Chung-May Yang, Jacob Shujui Hsu

Clin Exp Ophthalmol· August 2024

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Machine learning-based longitudinal prediction for GJB2-related sensorineural hearing loss.
Pey-Yu Chen, Ta-Wei Yang, Yi-Shan Tseng, Cheng-Yu Tsai, Chiung-Szu Yeh, Pei-Hsuan Lin, Jacob Shu-Jui Hsu, Chuan-Jen Hsu

Comput Biol Med· June 2024

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Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss.
Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, Chao-Hsuan Li, Chuan-Jen Hsu, Jacob Shujui Hsu

Otolaryngol Head Neck Surg· November 2023

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Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.
Yu-Ting Chiang, Pei-Hsuan Lin, Ming-Yu Lo, Hsin-Lin Chen, Chen-Yu Lee, Chuan-Jen Hsu, Jacob Shu-Jui Hsu

J Mol Diagn· November 2023

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Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chi-Bo Chen, Jacob Shujui Hsu, Pei-Lung Chen, Jia-Feng Wu, Huei-Ying Li, Yen-Hsuan Ni

J Pediatr· July 2023

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Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.
Yen-Hui Lee, Cheng-Yu Tsai, Yue-Sheng Lu, Pei-Hsuan Lin, Yu-Ting Chiang, Jacob Shu-Jui Hsu, Chuan-Jen Hsu

Genes (Basel)· April 2023

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Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Chen-Yu Lee, Ming-Yu Lo, You-Mei Chen, Pei-Hsuan Lin, Chuan-Jen Hsu, Jacob Shujui Hsu

Mol Genet Genomic Med· December 2022

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Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite.
Mao-Jan Lin, Yu-Chun Lin, Nae-Chyun Chen, Allen Chilun Luo, Sheng-Kai Lai, Chia-Lang Hsu, Jacob Shujui Hsu

Front Immunol· September 2022

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Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications.
Chee-Yee Lee, Pei-Hsuan Lin, Cheng-Yu Tsai, Yu-Ting Chiang, Hong-Ping Chiou, Jacob Shu-Jui Hsu, Chuan-Jen Hsu

Biomedicines· July 2022

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