Ying‐Chang Lu

发表

Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice

Ru Xiao, L. Vandenberghe, Chuan-Jen Hsu, 2022, JCI insight.

Efficient in Utero Gene Transfer to the Mammalian Inner Ears by the Synthetic Adeno-Associated Viral Vector Anc80L65

Ru Xiao, L. Vandenberghe, Chuan-Jen Hsu, 2020, Molecular therapy. Methods & clinical development.

Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology

Xi Lin, Chen-Chi Wu, Jau-Min Wong, 2011, PloS one.

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene

Shu-Wha Lin, I. Yu, Chuan-Jen Hsu, 2021, Scientific Reports.

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model

Shu-Wha Lin, I. Yu, Chuan-Jen Hsu, 2020, bioRxiv.

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

W. Hwu, Chuan-Jen Hsu, Chen-Chi Wu, 2009, Audiology and Neurotology.

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment

W. Hwu, Chuan-Jen Hsu, Chen-Chi Wu, 2009, The Laryngoscope.

Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.

Chuan-Jen Hsu, Ta-Ching Chen, Chen-Chi Wu, 2022, Stem cell research.

Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

Chuan-Jen Hsu, Pei-Lung Chen, Wei-Shiung Yang, 2013, PloS one.

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation Facilities

Chuan-Jen Hsu, Chen-Chi Wu, Ying-Chang Lu, 2007, Audiology and Neurotology.

Contribution of adiponectin and its type 1 receptor to age-related hearing impairment

Y. Lee, Chuan-Jen Hsu, Juen-Haur Hwang, 2015, Neurobiology of Aging.

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

Chuan-Jen Hsu, Chien-Yu Chen, Pei-Lung Chen, 2017, Scientific Reports.

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

Chuan-Jen Hsu, Chien-Yu Chen, Pei-Lung Chen, 2017, Scientific Reports.

Mutations in the OTOF Gene in Taiwanese Patients with Auditory Neuropathy

Chuan-Jen Hsu, Chen-Chi Wu, Ying-Chang Lu, 2010, Audiology and Neurotology.

Consumption of betel quid contributes to sensorineural hearing impairment through arecoline-induced oxidative stress

Y. Lee, Chuan-Jen Hsu, T. Liu, 2019, Scientific Reports.

Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.

Chuan-Jen Hsu, Pei-Lung Chen, T. Liu, 2019, The Journal of molecular diagnostics : JMD.

Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice

J. Wong, Shu-Wha Lin, I. Yu, 2013, PloS one.

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

H. Okano, Makoto Hosoya, Kuo-Hsuan Chang, 2019, Stem cell research.

Computer simulations reveal pathogenicity and inheritance modes of hearing loss-causing germinal variants

Lee-Wei Yang, Shu-Wha Lin, Chuan-Jen Hsu, 2022, bioRxiv.