公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2024 | Ethnically unique disease burden and limitations of current expanded carrier screening panels | CHIH-LING CHEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung, Miao-Zi; Lin, Yi-Lin; SHIN-YU LIN ; CHIEN-NAN LEE | International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics | 0 | 0 | |
2023 | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | Hsu, Yu-Kang; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; WUH-LIANG HWU ; WANG-TSO LEE ; NI-CHUNG LEE ; Po-Yu Huang, Eric; WEN-CHIN WENG | Genetics in medicine : official journal of the American College of Medical Genetics | 6 | 4 | |
2019 | Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry | Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD | Journal of Inherited Metabolic Disease | 33 | 21 | |
2009 | Eye anomalies and neurological manifestations in patients with PAX6 mutations. | YIN-HSIU CHIEN ; HSIANG-PO HUANG ; WUH-LIANG HWU ; Chien Y.H.; Chang T.C.; NI-CHUNG LEE | Molecular vision | 26 | 19 | |
2019 | Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia | JYH-MING JIMMY JUANG ; CHIA-TUNG SHUN ; YIH-SHARNG CHEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; Tsai W.-H.; Chen N.-Q.; YIN-HSIU CHIEN | Genetics in Medicine | 2 | 1 | |
2012 | Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU | Molecular medicine (Cambridge, Mass.) | 69 | 59 | |
2017 | Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency | Wai Luk A.D.; Lee P.P.; Mao H.; Chan K.-W.; Chen X.Y.; Chen T.-X.; He J.X.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Daengsuwan T.; Gupta A.; Singh S.; Rawat A.; Latiff A.H.A.; Lee A.C.W.; Shek L.P.; Nguyen T.V.A.; Chin T.J.; YIN-HSIU CHIEN ; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; HSIN-HUI YU ; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L. | Frontiers in Immunology | 26 | 24 | |
2013 | Fatty acid oxidation disorders in a chinese population in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU | JIMD Reports | 25 | 0 | |
2020 | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes | Kuo C.-W.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.; Hung M.-Z.; Lin I.-L.; FEI-PEI LAI ; NI-CHUNG LEE | Molecular Genetics and Genomic Medicine | 9 | 9 | |
2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 1 | 2 | |
2019 | GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry | Reuser A.J.J.; van der Ploeg A.T.; YIN-HSIU CHIEN ; Llerena J.; Jr.; Abbott M.-A.; Clemens P.R.; Kimonis V.E.; Leslie N.; Maruti S.S.; Sanson B.-J.; Araujo R.; Periquet M.; Toscano A.; Kishnani P.S.; on behalf of the Pompe Registry Sites | Human Mutation | 53 | 40 | |
2003 | Gene symbol: Btk: Disease: Bruton agammaglobulinemia | YIN-HSIU CHIEN | Human Genetics | 0 | 0 | |
2003 | Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency | WUH-LIANG HWU ; Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C. | Human Genetics | 3 | 0 | |
2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 0 | 0 | |
2004 | Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. | YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ariga T. | Human genetics | 1 | 0 | |
2024 | Gene therapy corrects the neurological deficits of mice with sialidosis | WUH-LIANG HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN | Gene therapy | | | |
2012 | Gene therapy for aromatic L-amino acid decarboxylase deficiency | WUH-LIANG HWU ; Muramatsu S.-I.; SHENG-HONG TSENG ; KAI-YUAN TZEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI ; RUEY-MEEI WU | Science Translational Medicine | 188 | 170 | |
2019 | Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency | Tseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU | Annals of Neurology | 20 | 18 | |
2017 | Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease | Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Chen Y.-T.; Wu J.-Y. | Molecular Genetics and Metabolism | 8 | 7 | |
2010 | Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program | Labrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 92 | 79 | |