Hui-Wen Yu

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Peng‐Chieh Chen, Jiani C. Yin, Hui-Wen Yu et al. · Proceedings of the National Academy of Sciences · 2014 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Meng‐Che Tsai, Hui-Wen Yu, Tsunglin Liu et al. · Frontiers in Genetics · 2018 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing

Cheng‐Yu Liao, Hui-Wen Yu, Chao-Neng Cheng et al. · Journal of Microbiology Immunology and Infection · 2018 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17