Search filters

List of works by Jacob Shujui Hsu

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

scientific article

Cancer gene mutations in congenital pulmonary airway malformation patients

article

Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study

scientific article published in 2022

Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications

scientific article published in 2022

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca

scientific article published on 21 November 2017

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

Hearing Impairment with Monoallelic GJB2 Variants

scientific article published in 2021

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

scientific article published on 26 June 2016

Plectin Mutations in Progressive Familial Intrahepatic Cholestasis

scientific article published on 19 August 2019

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population

scientific article published in 2023

Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework

scientific article

The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review

scientific article published on 6 October 2017

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

scientific article published on 26 February 2018

Paulina is supported by:

About Paulina

Help