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Hui Wen Yu
Hui Wen Yu
National Cheng Kung University
Exome sequencing
Biology
Genetics
Mutation
Bioinformatics
4
Papers
132
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New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies.
2021
Frontiers in Genetics
Meng-Che Tsai
Yen Yin Chou
Chia-Yi Li
Yi Chieh Wang
Hui Wen Yu
Chia-Hsiang Chen
Peng Chieh Chen
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Rare compound heterozygous frameshift mutations in ALMS1 gene identified through exome sequencing in a Taiwanese patient with Alström syndrome
2018
Frontiers in Genetics
Meng-Che Tsai
Hui Wen Yu
Tsunglin Liu
Yen Yin Chou
Yuan Yow Chiou
Peng Chieh Chen
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A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing
2018
Journal of Microbiology Immunology and Infection
Cheng Yu Liao
Hui Wen Yu
Chao Neng Cheng
Jiann Shiuh Chen
Ching Wei Lin
Peng Chieh Chen
Chi-Chang Shieh
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Next-generation sequencing identifies rare variants associated with Noonan syndrome
2014
Proceedings of the National Academy of Sciences of the United States of America
Peng Chieh Chen
Jiani Yin
Hui Wen Yu
Tao Yuan
Minerva Fernandez
Christina K. Yung
Quang Trinh
Vanya Peltekova
Jeffrey G. Reid
Erica Tworog-Dube
Margaret Morgan
Donna M. Muzny
Lincoln Stein
John Douglas Mcpherson
Amy E. Roberts
Richard A. Gibbs
Benjamin G. Neel
Raju Kucherlapati
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