Curated incidence of lysosomal storage diseases from the Taiwan Biobank

por Tsai, Meng-Ju Melody, Hung, Miao-Zi, Lin, Yi-Lin, Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang
Publicado 2023

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

por Chung, Chi-Ting, Lee, Ni-Chung, Fan, Sung-Pin, Hung, Miao-Zi, Lin, Yen-Heng, Chen, Chih-Hao, Jao, Tun
Publicado 2022

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

por Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Publicado 2020

Comparison of GATK and DeepVariant by trio sequencing

por Lin, Yi-Lin, Chang, Pi-Chuan, Hsu, Ching, Hung, Miao-Zi, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lai, FeiPei, Lee, Ni-Chung
Publicado 2022

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

por Hsu, Rai‐Hseng, Lee, Chen‐Hao, Chien, Yin‐Hsiu, Lin, Shuan‐Pei, Hung, Miao‐Zi, Chen, Nai‐Chi, Lin, Yi‐Lin, Hwu, Wuh‐Liang, Lee, Ni‐Chung
Publicado 2023