| 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 | |
| 2010 | Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic Review | WUH-LIANG HWU ; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao | 台灣醫學 | | 0 | |
| 2008 | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | NI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI | Journal of Pediatric Gastroenterology and Nutrition | 15 | 9 | |
| 2008 | Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency | NI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU | Journal of Pediatric Gastroenterology and Nutrition | 15 | 9 | |
| 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 | |
| 2021 | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review | Lin, Ting Wei; Hu, Ya Chiao; YAO-HSU YANG; YIN-HSIU CHIEN; NI-CHUNG LEE; HSIN-HUI YU; BOR-LUEN CHIANG; LI-CHIEH WANG | Journal of Microbiology, Immunology and Infection | | 0 | |
| 2012 | Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system | Chen, Szu-Ta; NI-CHUNG LEE; MEI-HWEI CHANG; Su, Yi-Ning; HUEY-LING CHEN; Ni, Yen-Hsuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Yen-Hsuan Ni; WUH-LIANG HWU; Chien, Yin-Hsiu; Chang, Cheng-Chi; Chen, Huey-Ling; Chang, Mei-Hwei | Journal of Pediatrics | 11 | 11 |  |
| 2021 | DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms | Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA | Australian Journal of Forensic Sciences | | 2 | |
| 2021 | DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms | Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA | Australian Journal of Forensic Sciences | | 2 | |
| 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 | |
| 2013 | The Ethical Issues and National Policy in Population-based Genetic Screening | WUH-LIANG HWU ; Daniel Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien | 台灣醫學 | | 0 | |
| 2013 | The Ethical Issues and National Policy in Population-based Genetic Screening | DANIEL FU-CHANG TSAI ; Lo-Yun Chung; Yin-Hsiu Chien; Wuh-Liang Hwu | Formosan Journal of Medicine | 0 | 0 | |
| 2019 | The Ethical Issues Arising from Genetic Testing for Non-Medical Purposes | DANIEL FU-CHANG TSAI ; Yu-Chen Juang; Yen-Hou Liao; Hung Chih-Yu Wang; Yin-Hsiu Chien; Wuh-Liang Hwu | Formosan Journal of Medicine | 0 | 0 | |
| 2020 | The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling | DANIEL FU-CHANG TSAI ; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu | Formosan Journal of Medicine | | 0 | |
| 2019 | GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry | van der Ploeg, Ans T.; Abbott, Mary Alice; Sanson, Bernd Jan; Kimonis, Virginia E.; Reuser, Arnold J.J.; Leslie, Nancy; Periquet, Magali; Maruti, Sonia S.; Clemens, Paula R.; Toscano, Antonio; Araujo, Roberto; Kishnani, Priya S.; YIN-HSIU CHIEN; Llerena, Juan | Human Mutation | 27 | 25 | |
| 2022 | Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy | Tang, Ya Chun; Tsui, Po Hsiang; Wang, Chiao Yin; Weng, Hui Ling; YIN-HSIU CHIEN; Yang, Chung Yi; WEN-CHIN WENG | Nutrients | 0 | 0 | |
| 2019 | Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population | CHIN-HSIEN LIN; WUH-LIANG ??HWU; Chen, Szu Ju; YIN-HSIU CHIEN; NI-CHUNG LEE | Brain and behavior | 0 | 2 | |
| 2003 | Living-Related Liver Transplantation for Metylmalonic Acidemia: Report of One Case | Jui-Yu Hsui; Yin-Hsiu Chien; Shao-Yin Chu; FRANK LEIGH LU ; Huey-Ling Chen; Ming-Je Ho; Po-Huang Lee; Wuh-Liang Hwu | Acta Paediatrica Taiwanica | | 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 | |
| 2021 | Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants | Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; YIN-HSIU CHIEN; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C.; Lin, Hsiang Yu; Lin, Shuan Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella | Human Mutation | | 0 | |
