| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
| 2022 | Advanced therapeutic strategy for hereditary neuromuscular diseases | WUH-LIANG HWU; Muramatsu, Shin Ichi; YIN-HSIU CHIEN; Byrne, Barry J. | Molecular therapy : the journal of the American Society of Gene Therapy | 0 | 0 | |
| 2022 | Comparison of GATK and DeepVariant by trio sequencing | Lin, Yi Lin; Chang, Pi Chuan; Hsu, Ching; Hung, Miao Zi; YIN-HSIU CHIEN; WUH-LIANG HWU; FEI-PEI LAI; NI-CHUNG LEE | Scientific Reports | 0 | 0 | |
| 2022 | Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome | Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; CHENG-TING LEE | Frontiers in Endocrinology | | 0 | |
| 2021 | Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency | CHUN-HWEI TAI; NI-CHUNG LEE; YIN-HSIU CHIEN; Byrne, Barry J.; Muramatsu, Shin Ichi; SHENG-HONG TSENG; WUH-LIANG HWU | Molecular Therapy | 1 | 1 | |
| 2021 | Molecular analysis of vietnamese patients with mucopolysaccharidosis type i | Can, Ngoc Thi Bich; Tran, Dien Minh; Bui, Thao Phuong; Nguyen, Khanh Ngoc; Nguyen, Hoang Huy; Nguyen, Tung Van; WUH-LIANG HWU; Tomatsu, Shunji; Vu, Dung Chi | Life | | 0 | |
| 2021 | Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy | Chen, Chih Ling; CHIEN-NAN LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; Chang, Tung Ming; NI-CHUNG LEE | Children | | 0 | |
| 2022 | Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening | NI-CHUNG LEE; Chang, Kai Ling; in 't Groen, Stijn L.M.; de Faria, Douglas O.S.; Huang, Hsiang Ju; Pijnappel, W. W.M.Pim; WUH-LIANG HWU; YIN-HSIU CHIEN | Journal of Pediatrics | 1 | 1 | |
| 2021 | Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios | SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE | Frontiers in Genetics | | 0 | |
| 2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG ; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | | 0 | |
| 2022 | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU | Molecular Genetics and Metabolism Reports | | 0 | |
| 2022 | Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; YI-CHING TUNG | Journal of the Formosan Medical Association | 0 | 0 | |
