| Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset Pompe disease PS Kishnani, D Corzo, M Nicolino, B Byrne, H Mandel, WL Hwu, N Leslie, ... Neurology 68 (2), 99-109, 2007 | 887 | 2007 |
| Biparental inheritance of mitochondrial DNA in humans S Luo, CA Valencia, J Zhang, NC Lee, J Slone, B Gui, X Wang, Z Li, ... Proceedings of the National Academy of Sciences 115 (51), 13039-13044, 2018 | 490 | 2018 |
| Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c.936+919G>A (IVS4+919G>A) WL Hwu, YH Chien, NC Lee, SC Chiang, R Dobrovolny, AC Huang, ... Human mutation 30 (10), 1397-1405, 2009 | 437 | 2009 |
| Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ... Genetics in Medicine 13 (3), 230-254, 2011 | 380 | 2011 |
| Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program YH Chien, SC Chiang, XK Zhang, J Keutzer, NC Lee, AC Huang, ... Pediatrics 122 (1), e39-e45, 2008 | 275 | 2008 |
| Gene therapy for aromatic L-amino acid decarboxylase deficiency WL Hwu, S Muramatsu, SH Tseng, KY Tzen, NC Lee, YH Chien, ... Science translational medicine 4 (134), 134ra61-134ra61, 2012 | 258 | 2012 |
| Pompe disease in infants: improving the prognosis by newborn screening and early treatment YH Chien, NC Lee, BL Thurberg, SC Chiang, XK Zhang, J Keutzer, ... Pediatrics 124 (6), e1116-e1125, 2009 | 238 | 2009 |
| Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan DM Niu, YH Chien, CC Chiang, HC Ho, WL Hwu, SM Kao, SH Chiang, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 210 | 2010 |
| Pompe disease: early diagnosis and early treatment make a difference YH Chien, WL Hwu, NC Lee Pediatrics & Neonatology 54 (4), 219-227, 2013 | 188 | 2013 |
| Presymptomatic diagnosis of spinal muscular atrophy through newborn screening YH Chien, SC Chiang, WC Weng, NC Lee, CJ Lin, WS Hsieh, WT Lee, ... The Journal of pediatrics 190, 124-129. e1, 2017 | 165 | 2017 |
| Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification HP Huang, PH Chen, WL Hwu, CY Chuang, YH Chien, L Stone, CL Chien, ... Human molecular genetics 20 (24), 4851-4864, 2011 | 158 | 2011 |
| Enhanced interpretation of newborn screening results without analyte cutoff values G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ... Genetics in medicine 14 (7), 648-655, 2012 | 142 | 2012 |
| Deconstructing Pompe Disease by Analyzing Single Muscle Fibers:“To See a World in a Grain of Sand…” N Raben, S Takikita, MG Pittis, B Bembi, SKN Marie, A Roberts, L Page, ... Autophagy 3 (6), 546-552, 2007 | 140 | 2007 |
| Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go T Dangouloff, E Vrščaj, L Servais, D Osredkar, T Adoukonou, O Aryani, ... Neuromuscular Disorders 31 (6), 574-582, 2021 | 137 | 2021 |
| Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth YH Chien, NC Lee, CA Chen, FJ Tsai, WH Tsai, JY Shieh, HJ Huang, ... The Journal of pediatrics 166 (4), 985-991. e2, 2015 | 134 | 2015 |
| Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial YH Chien, NC Lee, SH Tseng, CH Tai, S Muramatsu, BJ Byrne, WL Hwu The Lancet Child & Adolescent Health 1 (4), 265-273, 2017 | 130 | 2017 |
| Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program P Labrousse, YH Chien, RJ Pomponio, J Keutzer, NC Lee, VR Akmaev, ... Molecular genetics and metabolism 99 (4), 379-383, 2010 | 119 | 2010 |
| Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening NC Lee, NLS Tang, YH Chien, CA Chen, SJ Lin, PC Chiu, AC Huang, ... Molecular genetics and metabolism 100 (1), 46-50, 2010 | 117 | 2010 |
| Diagnosing mucopolysaccharidosis IVA TC Wood, K Harvey, M Beck, MG Burin, YH Chien, HJ Church, ... Journal of inherited metabolic disease 36, 293-307, 2013 | 112 | 2013 |
| Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening YH Chien, NC Lee, HJ Huang, BL Thurberg, FJ Tsai, WL Hwu The Journal of pediatrics 158 (6), 1023-1027. e1, 2011 | 107 | 2011 |
