Jacob S. Hsu

2F-2, No.129, Sec. 2, Zhongshan N. Rd
Zhongshan Dist, TPQ 10448, Taiwan

Last Updated: 09/26/2026

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Found 43 publications

A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.

A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.

Journal: International journal of molecular sciences

Published: April 01, 2026

gAIRR-wgs: high-resolution T cell receptor allele typing in biobank-scale whole-genome sequencing data.

gAIRR-wgs: high-resolution T cell receptor allele typing in biobank-scale whole-genome sequencing data.

Journal: Briefings in bioinformatics

Published: February 11, 2026

A population-specific genomic reference panel for Taiwan: NHRI-RP-1.

A population-specific genomic reference panel for Taiwan: NHRI-RP-1.

Journal: Journal of biomedical science

Published: January 09, 2026

From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.

From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.

Journal: Human genomics

Published: December 25, 2025

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Journal: Investigative ophthalmology & visual science

Published: October 08, 2025

Unmasking human T cell receptor germline diversity: 335 novel alleles identified in 47 Pangenome reference individuals using the gAIRR Suite.

Unmasking human T cell receptor germline diversity: 335 novel alleles identified in 47 Pangenome reference individuals using the gAIRR Suite.

Journal: Journal of advanced research

Published: August 01, 2025

Graph-KIR: graph-based KIR copy number estimation and allele calling using short-read sequencing data.

Graph-KIR: graph-based KIR copy number estimation and allele calling using short-read sequencing data.

Journal: Bioinformatics (Oxford, England)

Published: July 22, 2025

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

Journal: Molecular medicine (Cambridge, Mass.)

Published: June 18, 2025

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

Journal: International journal of molecular sciences

Published: June 05, 2025

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.

Journal: NPJ genomic medicine

Published: April 15, 2025

Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.

Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.

Journal: iScience

Published: March 04, 2025

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Journal: Nature communications

Published: January 24, 2025

Showing 1-12 of 43

Last Updated: 09/26/2026