Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
Wei, Chun-Yu, Yang, Jenn-Hwai, Yeh, Erh-Chan, Tsai, Ming-Fang, Kao, Hsiao-Jung, Lo, Chen-Zen, Chang, Lung-Pao, Lin, Wan-Jia, Hsieh, Feng-Jen, Belsare, Saurabh, Bhaskar, Anand, Su, Ming-Wei, Lee, Te-Chang, Lin, Yi-Ling, Liu, Fu-Tong, Shen, Chen-Yang, Li, Ling-Hui, Chen, Chien-Hsiun, Wall, Jeffrey D., Wu, Jer-Yuarn, Kwok, Pui-Yan
Published in Npj genomic medicine (11.02.2021)
Published in Npj genomic medicine (11.02.2021)
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Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing
Tsai, Hsiu-Hui, Kao, Hsiao-Jung, Kuo, Ming-Wei, Lin, Chin-Hsien, Chang, Chun-Min, Chen, Yi-Yin, Chen, Hsiao-Huei, Kwok, Pui-Yan, Yu, Alice L., Yu, John
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A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B
Chen, Wan‐Chun, Kao, Hsiao‐Jung, Kwok, Pui‐Yan, Chiou, Shyh‐Shin, Kuo, Yu‐Ling, Hsu, Wan‐Yi, Lu, Ping‐Tao, Wu, Cian‐Rong, Lin, Pei‐Chin
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Towards a reference genome that captures global genetic diversity
Wong, Karen H. Y., Ma, Walfred, Wei, Chun-Yu, Yeh, Erh-Chan, Lin, Wan-Jia, Wang, Elin H. F., Su, Jen-Ping, Hsieh, Feng-Jen, Kao, Hsiao-Jung, Chen, Hsiao-Huei, Chow, Stephen K., Young, Eleanor, Chu, Catherine, Poon, Annie, Yang, Chi-Fan, Lin, Dar-Shong, Hu, Yu-Feng, Wu, Jer-Yuarn, Lee, Ni-Chung, Hwu, Wuh-Liang, Boffelli, Dario, Martin, David, Xiao, Ming, Kwok, Pui-Yan
Published in Nature communications (30.10.2020)
Published in Nature communications (30.10.2020)
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De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome
Kao, Hsiao‐Jung, Chiang, Hung‐Lun, Chen, Hsiao‐Huei, Fan, Pi‐Chuan, Tu, Yi‐Fang, Chou, Yen‐Yin, Hwu, Wuh‐Liang, Lin, Chien‐Ling, Kwok, Pui‐Yan, Lee, Ni‐Chung
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Cell-based screen identifies porphyrins as FGFR3 activity inhibitors with therapeutic potential for achondroplasia and cancer
Lin, Yun-Wen, Kao, Hsiao-Jung, Chen, Wei-Ting, Kao, Cheng-Fu, Wu, Jer-Yuarn, Chen, Yuan-Tsong, Lee, Yi-Ching
Published in JCI insight (22.11.2023)
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Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase
Saleem, Amir N, Chen, Yen-Hui, Baek, Hwa Jin, Hsiao, Ya-Wen, Huang, Hong-Wen, Kao, Hsiao-Jung, Liu, Kai-Ming, Shen, Li-Fen, Song, I-Wen, Tu, Chen-Pei D, Wu, Jer-Yuarn, Kikuchi, Tateki, Justice, Monica J, Yen, Jeffrey J Y, Chen, Yuan-Tsong
Published in PLoS genetics (01.05.2010)
Published in PLoS genetics (01.05.2010)
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Highly efficient capture approach for the identification of diverse inherited retinal disorders
Kao, Hsiao-Jung, Lin, Ting-Yi, Hsieh, Feng-Jen, Chien, Jia-Ying, Yeh, Erh-Chan, Lin, Wan-Jia, Chen, Yi-Hua, Ding, Kai-Hsuan, Yang, Yu, Chi, Sheng-Chu, Tsai, Ping-Hsing, Hsu, Chih-Chien, Hwang, De-Kuang, Tsai, Hsien-Yang, Peng, Mei-Ling, Lee, Shi-Huang, Chau, Siu-Fung, Chen, Chen Yu, Cheang, Wai-Man, Chen, Shih-Jen, Kwok, Pui-Yan, Chiou, Shih-Hwa, Lu, Mei-Yeh Jade, Huang, Shun-Ping
Published in Npj genomic medicine (09.01.2024)
Published in Npj genomic medicine (09.01.2024)
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ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
Wu, Jer-Yuarn, Kao, Hsiao-Jung, Li, Sing-Chung, Stevens, Robert, Hillman, Steven, Millington, David, Chen, Yuan-Tsong
Published in The Journal of clinical investigation (01.02.2004)
Published in The Journal of clinical investigation (01.02.2004)
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ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein β-subunit
Kao, Hsiao-Jung, Cheng, Ching-Feng, Chen, Yen-Hui, Hung, Shuen-Iu, Huang, Cheng-Chih, Millington, David, Kikuchi, Tateki, Wu, Jer-Yuarn, Chen, Yuan-Tsong
Published in Human molecular genetics (15.12.2006)
Published in Human molecular genetics (15.12.2006)
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Alternative Splicing in Acad8 Resulting a Mitochondrial Defect and Progressive Hepatic Steatosis in Mice
Sabbagha, Nagham George Abd Al-Ahad, Kao, Hsiao-Jung, Yang, Chih-Fu, Huang, Cheng-Chih, Lin, Wei-De, Tsai, Fuu-Jen, Chen, Tzu-Ho, Tarn, Woan-Yuh, Wu, Jer-Yuarn, Chen, Yuan-Tsong
Published in Pediatric research (01.07.2011)
Published in Pediatric research (01.07.2011)
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ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein [beta]-subunit
Hsiao-Jung, Kao, Ching-Feng, Cheng, Yen-Hui, Chen, Hung, Shuen-Iu, Cheng-Chih Huang, Millington, David, Kikuchi, Tateki, Wu, Jer-Yuarn, Yuan-Tsong, Chen
Published in Human molecular genetics (15.12.2006)
Published in Human molecular genetics (15.12.2006)
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Downregulation of Phospholipase C δ3 by cAMP and Calcium
Lin, Fu-Gong, Cheng, Hwei-Fang, Lee, I-Fang, Kao, Hsiao-Jung, Loh, Shih-Hurng, Lee, Wei-Hwa
Published in Biochemical and biophysical research communications (17.08.2001)
Published in Biochemical and biophysical research communications (17.08.2001)
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Response of nasopharyngeal carcinoma cells to Epstein-Barr virus infection in vitro
LIN, C.-T, KAO, H.-J, LIN, J.-L, CHAN, W.-Y, WU, H.-C, LIANG, S.-T
Published in Laboratory investigation (01.08.2000)
Published in Laboratory investigation (01.08.2000)
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Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
Hsueh, Hsueh Wen, Kao, Hsiao-Jung, Chao, Chi-Chao, Hsueh, Sung-Ju, Huang, Yu-Ning, Lin, Wan-Jia, Su, Jen-Ping, Shy, Horng-Tzer, Yeh, Ti-Yen, Lin, Cheng-Chen, Kwok, Pui-Yan, Lee, Ni-Chung, Hsieh, Sung-Tsang
Published in Neurology. Genetics (01.08.2023)
Published in Neurology. Genetics (01.08.2023)
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ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
Wu, J-Y, Kao, H-J, Li, S-C, Stevens, R, Hillman, S, Millington, D, Chen, Y-T
Published in The Journal of clinical investigation (01.02.2004)
Published in The Journal of clinical investigation (01.02.2004)
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Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase: e1000985
Saleem, Amir N, Chen, Yen-Hui, Baek, Hwa Jin, Hsiao, Ya-Wen, Huang, Hong-Wen, Kao, Hsiao-Jung, Liu, Kai-Ming, Shen, Li-Fen, Song, I-wen, Tu, Chen-Pei D, Wu, Jer-Yuarn, Kikuchi, Tateki, Justice, Monica J, Yen, Jeffrey JY, Chen, Yuan-Tsong
Published in PLoS genetics (01.06.2010)
Published in PLoS genetics (01.06.2010)
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