Yu-Hsin Chao
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Explore the profile of Yu-Hsin Chao including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
95
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0
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Recent Articles
1.
Wangler M, Chao Y, Roth M, Welti R, McNew J
bioRxiv
. 2024 May;
PMID: 38746221
Peroxisomal Biogenesis Disorders Zellweger Spectrum (PBD-ZSD) disorders are a group of autosomal recessive defects in peroxisome formation that produce a multi-systemic disease presenting at birth or in childhood. Well documented...
2.
Marcogliese P, Deal S, Andrews J, Harnish J, Bhavana V, Graves H, et al.
Cell Rep
. 2022 Mar;
38(11):110517.
PMID: 35294868
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in...
3.
Wangler M, Chao Y, Bayat V, Giagtzoglou N, Shinde A, Putluri N, et al.
PLoS Genet
. 2017 Jun;
13(6):e1006825.
PMID: 28640802
Peroxisome biogenesis disorders (PBD) are a group of multi-system human diseases due to mutations in the PEX genes that are responsible for peroxisome assembly and function. These disorders lead to...
4.
Chao Y, Robak L, Xia F, Koenig M, Adesina A, Bacino C, et al.
Hum Mol Genet
. 2016 Mar;
25(9):1846-56.
PMID: 26931468
Defects in organelle dynamics underlie a number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for studying genetic changes that affect the cellular machinery. WES...
5.
Bacino C, Chao Y, Seto E, Lotze T, Xia F, Jones R, et al.
Data Brief
. 2016 Feb;
6:722-7.
PMID: 26870756
This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in...
6.
Bacino C, Chao Y, Seto E, Lotze T, Xia F, Jones R, et al.
Mol Genet Metab Rep
. 2015 Dec;
5:15-18.
PMID: 26644994
We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous mutation suggesting...