日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Polygenic height prediction for the Han Chinese in Taiwan

台湾汉族身高多基因预测

Chang, Chih-Hao; Chou, Che-Yu; Raben, Timothy G; Chen, Shih-Ann; Jong, Yuh-Jyh; Wu, Jeng-Yih; Yang, Shun-Fa; Chen, Hsiang-Cheng; Chen, Yen-Lin; Chen, Ming; Ma, Gwo-Chin; Huang, Chih-Yang; Wang, Tso-Fu; Lee, Sing-Lian; Hung, Chen-Fang; Pang, See-Tong; Widen, Erik; Chang, Yao-Ming; Yeh, Erh-Chan; Wei, Chun-Yu; Chen, Chien-Hsiun; Hsu, Stephen D H; Kwok, Pui-Yan

Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia

利用全基因组测序进行光学基因组作图,可识别急性白血病中复杂的染色体结构变异。

Tsai, Meng-Ju Melody; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Yu, Chih-Hsiang; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kwok, Pui-Yan; Lee, Ni-Chung; Yang, Yung-Li

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

通过全基因组分析鉴定出一名患有科内莉亚·德·兰格综合征的患者体内破坏NIPBL的新生染色体易位

Kao, Hsiao-Jung; Wang, Elin H F; Yeh, Erh-Chan; Chen, Hsiao-Huei; Hsieh, Feng-Jen; Ko, Tsang-Ming; Hwu, Wuh-Liang; Kwok, Pui-Yan; Lee, Ni-Chung

Clinical impact of pharmacogenetic risk variants in a large chinese cohort

药物遗传风险变异在中国大型人群队列中的临床影响

Wei, Chun-Yu; Wen, Ming-Shien; Cheng, Chih-Kuang; Sheen, Yi-Jing; Yao, Tsung-Chieh; Lee, Sing-Lian; Wu, Jer-Yuarn; Tsai, Ming-Fang; Li, Ling-Hui; Chen, Chun-Houh; Fann, Cathy S-J; Yang, Hsin-Chou; Huang, Yen-Tsung; Chen, Hung-Hsin; Liu, Yi-Min; Yeh, Erh-Chan; Peng, Yu-Ching; Wang, Shuu-Jiun; Chen, Shih-Pin; Tsai, Ming-Tsun; Huo, Teh-Ia; Su, Chien-Wei; Tarng, Der-Cherng; Huang, Chin-Chou; Fuh, Jong-Ling; Lan, Keng-Hsin; Liu, Yo-Tsen; Lu, Ching-Liang; Lee, Yi-Chung; Huang, Yi-Hsiang; Li, Chung-Pin; Wang, Yen-Feng; Hsieh, Yu-Cheng; Chen, Yi-Ming; Hsiao, Tzu-Hung; Lin, Ching-Heng; Chen, Yen-Ju; Chen, I-Chieh; Mao, Chien-Lin; Chang, Shu-Jung; Chang, Yen-Lin; Liao, Yi-Ju; Lai, Chih-Hung; Lee, Wei-Ju; Tung, Hsin; Yen, Ting-Ting; Yen, Hsin-Chien; Chang, Jer-Hwa; Huang, Chun-Yao; Chan, Lung; Lin, Yung-Wei; Hsiao, Bu-Yuan; Hu, Chaur-Jong; Lin, Yung-Kuo; Lin, Yung-Feng; Chang, Tung-Cheng; Wu, Deng-Chyang; Kan, Jung-Yu; Hsu, Chung-Yao; Chen, Szu-Chia; Li, Ching-Chia; Huang, Chung-Feng; Sheu, Chau-Chyun; Yang, Lii-Jia; Chen, Chung-Hwan; Chen, Kuan-Mao; Chang, Shu-Min; Liou, Min-Shiuan; Wang, Shi-Ping; Lin, Kuan-Ting; Chuang, Hui-Ping; Chen, Ying-Ju; Sin, Joey; Chen, Ying-Ting; Chang, Chiung-Chih; Kuo, Chang-Fu; Lin, Jing-Chi; Kuo, Ho-Chang; Chan, Tien-Min; Lee, Chao-Wei; Lai, Jenn-Haung; Luo, Shue-Fen; Cheng, Hao-Tsai; Lin, Lian-Yu; Chang, Li-Chun; Tsai, Chia-Ti; Kao, Hsien-Li; Yu, Jian-Jyun; Jeng, Jiann-Shing; Chiu, Min-Chin; Hong, Tzu-Chan; Yang, Shun-Fa; Lu, Hsueh-Ju; Su, Sheng-Chiang; Chu, Pauling; Li, Peng-Fei; Tsai, Chia-Lin; Tsai, Chia-Kuang; Tang, Shih-En; Lin, Chien-Ming; Wu, Yung-Fu; Huang, Chih-Yang; Ling, Shinn-Zong; Chang, Chun-Chun; Lin, Tzu-Kai; Hsiao, Sheng-Mou; Chang, Chih-Hung; Chen, Chih-Dao; Ma, Gwo-Chin; Chang, Ting-Yu; Hwang, Juey-Jen; Lu, Chien-Lin; Kao, Kuo-Jang; Hung, Chen-Fang; Chen, Shiou-Sheng; Chen, Po-Yueh; Tsui, Kochung; Chen, Yuan-Tsong; Chen, Chien-Hsiun; Chien, Chih-Cheng; Chiang, Han-Sun; Chiu, Yen-Ling; Chen, Hsiang-Cheng; Kwok, Pui-Yan

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

基于肾脏多组学的遗传评分卡揭示了趋同的编码和调控变异

Liu, Hongbo; Abedini, Amin; Ha, Eunji; Ma, Ziyuan; Sheng, Xin; Dumoulin, Bernhard; Qiu, Chengxiang; Aranyi, Tamas; Li, Shen; Dittrich, Nicole; Chen, Hua-Chang; Tao, Ran; Tarng, Der-Cherng; Hsieh, Feng-Jen; Chen, Shih-Ann; Yang, Shun-Fa; Lee, Mei-Yueh; Kwok, Pui-Yan; Wu, Jer-Yuarn; Chen, Chien-Hsiun; Khan, Atlas; Limdi, Nita A; Wei, Wei-Qi; Walunas, Theresa L; Karlson, Elizabeth W; Kenny, Eimear E; Luo, Yuan; Kottyan, Leah; Connolly, John J; Jarvik, Gail P; Weng, Chunhua; Shang, Ning; Cole, Joanne B; Mercader, Josep M; Mandla, Ravi; Majarian, Timothy D; Florez, Jose C; Haas, Mary E; Lotta, Luca A; Drivas, Theodore G; Vy, Ha My T; Nadkarni, Girish N; Wiley, Laura K; Wilson, Melissa P; Gignoux, Christopher R; Rasheed, Humaira; Thomas, Laurent F; Åsvold, Bjørn Olav; Brumpton, Ben M; Hallan, Stein I; Hveem, Kristian; Zheng, Jie; Hellwege, Jacklyn N; Zawistowski, Matthew; Zöllner, Sebastian; Franceschini, Nora; Hu, Hailong; Zhou, Jianfu; Kiryluk, Krzysztof; Ritchie, Marylyn D; Palmer, Matthew; Edwards, Todd L; Voight, Benjamin F; Hung, Adriana M; Susztak, Katalin

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

台湾精准医疗计划为大规模研究提供了一个队列。

Yang, Hsin-Chou; Kwok, Pui-Yan; Li, Ling-Hui; Liu, Yi-Min; Jong, Yuh-Jyh; Lee, Kang-Yun; Wang, Da-Wei; Tsai, Ming-Fang; Yang, Jenn-Hwai; Chen, Chien-Hsiun; Yeh, Erh-Chan; Wei, Chun-Yu; Fann, Cathy S-J; Huang, Yen-Tsung; Chen, Chia-Wei; Lee, Yi-Ju; Chu, Shih-Kai; Ho, Chih-Hsing; Yang, Cheng-Shin; Lee, Yungling Leo; Chen, Hung-Hsin; Hou, Ming-Chih; Chiou, Jeng-Fong; Yang, Shun-Fa; Wang, Chih-Hung; Huang, Chih-Yang; Chiu, Kuan-Ming; Chen, Ming; Chiang, Fu-Tien; Lee, Sing-Lian; Chen, Shiou-Sheng; Yao, Wei-Jen; Chien, Chih-Cheng; Lin, Shih-Yao; Chang, Fu-Pang; Ho, Hsiang-Ling; Yeh, Yi-Chen; Tseng, Wei-Cheng; Lin, Ming-Hwai; Chang, Hsiao-Ting; Tseng, Ling-Ming; Liang, Wen-Yih; Chen, Paul Chih-Hsueh; Hang, Jen-Fan; Lin, Shih-Chieh; Chan, Yu-Jiun; Kuo, Ying-Ju; Wang, Lei-Chi; Pan, Chin-Chen; Hsieh, Yu-Cheng; Chen, Yi-Ming; Hsiao, Tzu-Hung; Lin, Ching-Heng; Chen, Yen-Ju; Chen, I-Chieh; Mao, Chien-Lin; Chang, Shu-Jung; Chang, Yen-Lin; Liao, Yi-Ju; Lai, Chih-Hung; Lee, Wei-Ju; Tung, Hsin; Yen, Ting-Ting; Yen, Hsin-Chien; Shih, Chun-Ming; Chou, Teh-Ying; Liou, Tsan-Hon; Chiang, Chen-Yuan; Cherng, Yih-Giun; Chen, Chih-Hwa; Chiu, Chao-Hua; Tseng, Sung-Hui; Lin, Emily Pei-Ying; Chen, Ying-Ju; Chuang, Hui-Ping; Chen, Tsai-Chuan; Huang, Wei-Ting; Sin, Joey; Liu, I-Ling; Chen, Yi-Chen; Chao, Kuo-Kuang; Wu, Yu-Min; Yu, Pin-Pin; Chang, Lung-Pao; Yen, Kuei-Yao; Chang, Li-Ching; Sheen, Yi-Jing; Chen, Yuan-Tsong; Kan, Kamhon; Tsai, Hsiang-Lin; Wang, Yao-Kuang; Hou, Ming-Feng; Yang, Yuan-Han; Kuo, Chao-Hung; Wu, Wen-Jeng; Huang, Jee-Fu; Chong, Inn-Wen; Tsai, Jong-Rung; Lin, Cheng-Yu; Yu, Ming-Chin; Lee, Tsong-Hai; Tsai, Meng-Han; Ou, Yu-Che; Chen, Pin-Yuan; Hu, Tsung-Hui; Shyu, Yu-Chiau; Cheng, Chih-Kuang; Fang, Yu-Jen; Hsieh, Song-Chou; Chen, Chien-Hung; Chen, Chieh-Chang; Li, Ko-Jen; Lin, Chin-Hsien; Chiu, Hsien-Yi; Wu, Chen-Chi; Chen, Chun-Yen; Chu, Shi-Jye; Liu, Feng-Cheng; Yang, Fu-Chi; Chang, Hsin-An; Chen, Wei-Liang; Yang, Sung-Sen; Sung, Yueh-Feng; Wang, Tso-Fu; Lin, Shinn-Zong; Wu, Yen-Wen; Wu, Chien-Sheng; Jiang, Ju-Ying; Ma, Gwo-Chin; Chang, Ting-Yu; Hwang, Juey-Jen; Kao, Kuo-Jang; Hung, Chen-Fang; Chiu, Ting-Fang; Chen, Po-Yueh; Tsui, Kochung; Wu, Ming-Shiang; Pang, See-Tong; Chen, Shih-Ann; Chen, Wei-Ming; Chen, Chun-Houh; Sheu, Wayne Huey-Herng; Wu, Jer-Yuarn

Population-specific polygenic risk scores for people of Han Chinese ancestry

针对汉族人群的群体特异性多基因风险评分

Chen, Hung-Hsin; Chen, Chien-Hsiun; Hou, Ming-Chih; Fu, Yun-Ching; Li, Ling-Hui; Chou, Che-Yu; Yeh, Erh-Chan; Tsai, Ming-Fang; Chen, Chun-Houh; Yang, Hsin-Chou; Huang, Yen-Tsung; Liu, Yi-Min; Wei, Chun-Yu; Su, Jen-Ping; Lin, Wan-Jia; Wang, Elin H F; Chiang, Chi-Lu; Jiang, Jeng-Kai; Lee, I-Hui; Liang, Kung-Hao; Chen, Wei-Sheng; Tsai, Hung-Cheng; Lin, Shih-Yao; Chang, Fu-Pang; Ho, Hsiang-Ling; Yeh, Yi-Chen; Tseng, Wei-Cheng; Lin, Ming-Hwai; Chang, Hsiao-Ting; Tseng, Ling-Ming; Liang, Wen-Yih; Chen, Paul Chih-Hsueh; Hsieh, Yu-Cheng; Chen, Yi-Ming; Hsiao, Tzu-Hung; Lin, Ching-Heng; Chen, Yen-Ju; Chen, I-Chieh; Mao, Chien-Lin; Chang, Shu-Jung; Chang, Yen-Lin; Liao, Yi-Ju; Lai, Chih-Hung; Lee, Wei-Ju; Tung, Hsin; Yen, Ting-Ting; Yen, Hsin-Chien; Chen, Ming-Yao; Lin, Ying-Chin; Kao, Yung-Ta; Kao, Bi-Zhen; Lee, Jing-Er; Chung, Chi-Li; Liu, Ju-Chi; Chan, Paul; Lin, Chang-Hsien; Chen, Chia-Hsin; Wu, I-Chen; Lin, Lung-Chang; Wang, Jiunn-Wei; Shih, Shen-Liang; Hsieh, Sun-Wung; Hung, Chih-Hsing; Li, Wei-Ming; Yang, Chih-Jen; Yang, Cheng-Shin; Weng, Ru-Hui; Chen, Yu-Chi; Chang, Chun-Ping; Wu, Tai-Hsun; Lin, Yu-Chang; Sheen, Yi-Jing; Wang, Shi-Heng; Chen, Sye-Pu; Raben, Timothy; Widen, Erik; Hsu, Stephen; Hsieh, Feng-Jen; Ho, Dong-Ru; Huang, Yu-Huei; Yang, Chung-Han; Huang, Yu-Shu; Chen, Yen-Fu; Wu, Hsien-Ming; Tsai, Ping-Han; Huang, Kuan-Gen; Chien, Chih-Yen; Ho, Yi-Lwun; Wu, Ming-Shiang; Kao, Jia-Horng; Liu, Yen-Bin; Juang, Jyh-Ming Jimmy; Lin, Mao-Hsin; Lin, Yen-Hung; Lee, Ji-Yuh; Lu, Hsueh-Ju; Lu, Chieh-Hua; Feng, An-Chieh; Liu, Jhih-Syuan; Chiang, Chien-Ping; Chu, Nain-Feng; Lin, Jung-Chun; Yeh, Yi-Wei; Meng, En; Huang, Chih-Yang; Li, Chi-Cheng; Wang, Tso-Fu; Su, Kuei-Ying; Wang, Jia-Kang; Chen, Mei-Hsiu; Chen, Hua-Fen; Ma, Gwo-Chin; Chang, Ting-Yu; Chiang, Fu-Tien; Chang, Hsing-Jung; Kao, Kuo-Jang; Hung, Chen-Fang; Tsai, Ching-Yao; Chen, Po-Yueh; Tsui, Kochung; Chen, Yuan-Tsong; Kwok, Pui-Yan; Sheu, Wayne Huey-Herng; Yang, Shun-Fa; Liou, Jyh-Ming; Wang, Jaw-Yuan; Chiou, Jeng-Fong; Wu, Jer-Yuarn; Fann, Cathy S J

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

遗传祖源和外显子组测序在多样化人群中的诊断价值

Mavura, Yusuph; Sahin-Hodoglugil, Nuriye; Hodoglugil, Ugur; Kvale, Mark; Martin, Pierre-Marie; Van Ziffle, Jessica; Devine, W Patrick; Ackerman, Sara L; Koenig, Barbara A; Kwok, Pui-Yan; Norton, Mary E; Slavotinek, Anne; Risch, Neil

Highly efficient capture approach for the identification of diverse inherited retinal disorders

一种高效的捕获方法,用于识别多种遗传性视网膜疾病。

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

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

不同人群中儿科和产前外显子组测序的诊断价值

Slavotinek, Anne; Rego, Shannon; Sahin-Hodoglugil, Nuriye; Kvale, Mark; Lianoglou, Billie; Yip, Tiffany; Hoban, Hannah; Outram, Simon; Anguiano, Beatrice; Chen, Flavia; Michelson, Jeremy; Cilio, Roberta M; Curry, Cynthia; Gallagher, Renata C; Gardner, Marisa; Kuperman, Rachel; Mendelsohn, Bryce; Sherr, Elliott; Shieh, Joseph; Strober, Jonathan; Tam, Allison; Tenney, Jessica; Weiss, William; Whittle, Amy; Chin, Garrett; Faubel, Amanda; Prasad, Hannah; Mavura, Yusuph; Van Ziffle, Jessica; Devine, W Patrick; Hodoglugil, Ugur; Martin, Pierre-Marie; Sparks, Teresa N; Koenig, Barbara; Ackerman, Sara; Risch, Neil; Kwok, Pui-Yan; Norton, Mary E