| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
|---|---|---|---|---|---|---|
| 2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | YIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. | Molecular Genetics and Metabolism | 37 | 34 | |
| 2009 | Altered homeostasis of CD4 + FoxP3 + regulatory T-cell subpopulations in systemic lupus erythematosus | Suen J.-L.; Li H.-T.; Jong Y.-J.; BOR-LUEN CHIANG ; Yen J.-H. | Immunology | 82 | 74 | |
| 2011 | Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif | Er T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN ; Chang J.-G.; Hwang J.-K.; Jong Y.-J. | BMC Structural Biology | 28 | 26 | |
| 2014 | Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease | Er T.-K.; Chen C.-C.; YIN-HSIU CHIEN ; Liang W.-C.; Kan T.-M.; Jong Y.-J. | Clinica Chimica Acta | 5 | 4 | |
| 2006 | The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination | Chang Y.-F.; Cheng C.-M.; Chang L.-K.; Jong Y.-J.; Yuo C.-Y.; LI-KWAN CHANG | Biochemical and Biophysical Research Communications | 54 | 54 | |
| 2008 | Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis | Hung C.-C.; CHIEN-NAN LEE ; Chang C.-H.; Jong Y.-J.; Chen C.-P.; Hsieh W.-S.; Su Y.-N.; Win-Li Lin | Clinical Biochemistry | 28 | 25 | |
| 2008 | Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison | Hung C.-C.; CHIEN-NAN LEE ; Lin C.-Y.; WEN-FANG CHENG ; CHI-AN CHEN ; SUNG-TSANG HSIEH ; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Win-Li Lin | Electrophoresis | 11 | 10 | |
| 2016 | Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study | LEE-CHIN WONG ; Huang H.-L.; WEN-CHIN WENG ; Jong Y.-J.; Yin Y.-J.; Chen H.-A.; WANG-TSO LEE ; Ho S.-Y. | Research in Developmental Disabilities | 11 | 9 | |
| 2016 | Increased risks of tic disorders in children with epilepsy: A nation-wide population-based case-control study in Taiwan | WEN-CHIN WENG ; Huang H.-L.; LEE-CHIN WONG ; Jong Y.-J.; Yin Y.-J.; Chen H.-A.; WANG-TSO LEE ; Ho S.-Y. | Research in Developmental Disabilities | 11 | 9 | |
| 2016 | An integrative transcriptomic analysis for identifying novel target genes corresponding to severity spectrum in spinal muscular atrophy | CHUNG WEI YANG; Chen C.-L.; Chou W.-C.; Lin H.-C.; Jong Y.-J.; LI-KAI TSAI ; Chuang C.-Y. | PLoS ONE | 5 | 5 | |
| 2007 | Molecular assay of -α3.7 and -α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography | Hung C.-C.; CHIEN-NAN LEE ; Chen C.-P.; Jong Y.-J.; WU-SHIUN HSIEH ; Win-Li Lin ; Su Y.-N.; Hsu S.-M. | Clinical Biochemistry | 20 | 18 | |
| 2019 | Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum | CHENG-TING LEE ; YI-CHING TUNG ; WUH-LIANG HWU ; JIN-CHUNG SHIH ; WEN-HSI LIN ; MU-ZON WU ; KUAN-TING KUO ; YUNG-LI YANG ; HUEY-LING CHEN ; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU ; Tsai W.-Y.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 5 | 5 | |
| 2007 | Multiplex ligation-dependent probe amplification identification of deletions and duplications of the duchenne muscular dystrophy gene in Taiwanese subjects | HSIAO-LIN HWA ; Chang Y.-Y.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; Ko T.-M. | Journal of the Formosan Medical Association | 31 | 26 | |
| 2021 | Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study | Ou S.-F.; Ho C.-S.; WANG-TSO LEE ; Lin K.-L.; Jones C.C.; Jong Y.-J. | Brain and Development | 6 | 5 | |
| 2021 | Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions | Chan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN ; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J. | Journal of Neurology, Neurosurgery and Psychiatry | 3 | 3 | |
| 2019 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study | De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU ; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Butterfield R.J.; Topaloglu H.; Ben-Omran T.; Sansone V.A.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group | Neuromuscular Disorders | 277 | 257 | |
| 2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU | Journal of Pediatrics | 90 | 79 | |
| 2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 55 | 51 | |
| 2005 | Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene | Hung C.-C.; CHIEN-NAN LEE ; Chen C.-P.; Jong Y.-J.; CHI-AN CHEN ; WEN-FANG CHENG ; Lin, Win-Li ; Su Y.-N. | Analytical Chemistry | 22 | 21 | |
| 2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 37 | 37 |
