Biparental Inheritance of Mitochondrial DNA in Humans
Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng
Published in Proceedings of the National Academy of Sciences - PNAS (18.12.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (18.12.2018)
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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
Reuser, Arnold J. J., Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
Chien, Yin-Hsiu, Chiang, Shu-Chuan, Weng, Wen-Chin, Lee, Ni-Chung, Lin, Ching-Jie, Hsieh, Wu-Shiun, Lee, Wang-Tso, Jong, Yuh-Jyh, Ko, Tsang-Ming, Hwu, Wuh-Liang
Published in The Journal of pediatrics (01.11.2017)
Published in The Journal of pediatrics (01.11.2017)
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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, Chien, Yin‐Hsiu, 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
Published in Human mutation (01.11.2021)
Published in Human mutation (01.11.2021)
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Comparison of GATK and DeepVariant by trio sequencing
Lin, Yi-Lin, Chang, Pi-Chuan, Hsu, Ching, Hung, Miao-Zi, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lai, FeiPei, Lee, Ni-Chung
Published in Scientific reports (02.02.2022)
Published in Scientific reports (02.02.2022)
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STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt
Published in Journal of neurology (01.07.2021)
Published in Journal of neurology (01.07.2021)
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Journal Article
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
Chan, Sophelia Hoi-Shan, Chae, Jong-Hee, Chien, Yin-Hsiu, Ko, Tae-Sung, Lee, Jee Hun, Lee, Yun Jeong, Nam, Sang Ook, Jong, Yuh-Jyh
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2021)
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Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium
Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H, Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang
Published in Orphanet journal of rare diseases (03.02.2020)
Published in Orphanet journal of rare diseases (03.02.2020)
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Journal Article
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hui-Ying, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J, Hsu, Li-Wen
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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Journal Article
A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase‐7
Lee, Chee‐Seng, Ni, Yen‐Hsuan, Chen, Huey‐Ling, Wu, Jia‐Feng, Hsu, Hong‐Yuan, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Yen, Ting‐An, Chua, Huey‐Huey, Chen, Yu‐Ju, Wang, Yu‐Lin, Chang, Mei‐Hwei
Published in Journal of pediatric gastroenterology and nutrition (01.04.2023)
Published in Journal of pediatric gastroenterology and nutrition (01.04.2023)
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Journal Article
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
Chien, Yin-Hsiu, MD, PhD, Lee, Ni-Chung, MD, PhD, Chen, Chun-An, MD, Tsai, Fuu-Jen, MD, PhD, Tsai, Wen-Hui, MD, PhD, Shieh, Jeng-Yi, MD, PhD, Huang, Hsiang-Ju, MS, Hsu, Wei-Chung, MD, PhD, Tsai, Tzu-Hsun, MD, PhD, Hwu, Wuh-Liang, MD, PhD
Published in The Journal of pediatrics (01.04.2015)
Published in The Journal of pediatrics (01.04.2015)
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Journal Article
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
Weng, Wen-Chin, Hsu, Yu-Kan, Chang, Fu-Man, Lin, Chun-Yen, Hwu, Wuh-Liang, Lee, Wang-Tso, Lee, Ni-Chung, Chien, Yin-Hsiu
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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Journal Article
Ethnically unique disease burden and limitations of current expanded carrier screening panels
Chen, Chih‐Ling, Lee, Ni‐Chung, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang, Hung, Miao‐Zi, Lin, Yi‐Lin, Lin, Shin‐Yu, Lee, Chien‐Nan
Published in International journal of gynecology and obstetrics (01.03.2024)
Published in International journal of gynecology and obstetrics (01.03.2024)
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Journal Article
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Kishnani, Priya S, Kronn, David, Suwazono, Shugo, Broomfield, Alexander, Llerena, Juan, Al-Hassnan, Zuhair Nasser, Batista, Julie L, Wilson, Kathryn M, Periquet, Magali, Daba, Nadia, Hahn, Andreas, Chien, Yin-Hsiu
Published in Orphanet journal of rare diseases (06.12.2023)
Published in Orphanet journal of rare diseases (06.12.2023)
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