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Pui–Yan Kwok
academia sinica
89H-index
490Paper Count
3.1WCitation Count
Published Papers 196
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The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.png)
Nature.png)
2025-10-15
0
Hsin-Chou Yang; Pui-Yan Kwok; Ling-Hui Li; Yi-Min Liu; Yuh-Jyh Jong; Kang-Yun Lee; Da-Wei Wang; Ming-Fang Tsai; Jenn-Hwai Yang; Chien-Hsiun Chen; Erh-Chan Yeh; Chun-yu Wei; Cathy S.-J. Fann; Yen-Tsung Huang; Chia-Wei Chen; Yi-Ju Lee; Shih-Kai Chu; Chih-hsing Ho; Cheng-Shin Yang; Yungling Leo Lee; Hung-Hsin Chen; Ming-Chih Hou; Jeng-Fong Chiou; Shun-Fa Yang; Chih-Hung Wang; Chih-Yang Huang; Kuan-Ming Chiu; Ming Chen; Fu-Tien Chiang; Sing-Lian Lee; Shiou-Sheng Chen; Wei-Jen Yao; Chih-Cheng Chien; Shih-Yao Lin; Fu-Pang Chang; Hsiang-Ling Ho; Yi-Chen Yeh; Wei-Cheng Tseng; Ming-Hwai Lin; Hsiao-Ting Chang; Ling-Ming Tseng; Wen-Yih Liang; Paul Chih-Hsueh Chen; Jen-Fan Hang; Shih-Chieh Lin; Yu-Jiun Chan; Ying-Ju Kuo; Lei-Chi Wang; Chin-Chen Pan; Yu-Cheng Hsieh; Yi-Ming Chen; Tzu-Hung Hsiao; Ching‐Heng Lin; Yen-Ju Chen; I-Chieh Chen; Chien-Lin Mao; Shu-Jung Chang; Yen-Lin Chang; Yi‐Ju Liao; Chih-Hung Lai; Wei-Ju Lee; Hsin Tung; Ting-Ting Yen; Hsin-Chien Yen; Chun-Ming Shih; Teh-Ying Chou; Tsan-Hon Liou; Chen-Yuan Chiang; Yih-Giun Cherng; Chih-Hwa Chen; Chao-Hua Chiu; Sung-Hui Tseng; Emily Pei-Ying Lin; Ying-Ju Chen; Hui-Ping Chuang; Tsai-Chuan Chen; Wei-Ting Huang; Joey Sin; I-Ling Liu; Yi-Chen Chen; Kuo-Kuang Chao; Yu-Min Wu; Pin-Pin Yu; Lung-Pao Chang; Kuei-Yao Yen; Li-Ching Chang; Yi-Jing Sheen; Yuan-Tsong Chen; Kamhon Kan; Hsiang-Lin Tsai; Yao-Kuang Wang; Ming-Feng Hou; Yuan-Han Yang; Chao-Hung Kuo; Wen-Jeng Wu; Jee-Fu Huang; Inn-Wen Chong; Jong-Rung Tsai; Cheng-Yu Lin; Ming-Chin Yu; Tsong-Hai Lee; Meng-Han Tsai; Yu-Che Ou; Pin-Yuan Chen; Tsung-Hui Hu; Yu-Chiau Shyu; Chih-Kuang Cheng; Yu-Jen Fang; Song-Chou Hsieh; Chien-Hung Chen; Chieh-Chang Chen; Ko-Jen Li; Chin-Hsien Lin; Hsien-Yi Chiu; Chen-Chi Wu; Chun-Yen Chen; Shi-Jye Chu; Feng-Cheng Liu; Fu-Chi Yang; Hsin-An Chang; Wei-liang Chen; Sung-Sen Yang; Yueh-feng Sung; Tso-Fu Wang; Shinn-Zong Lin; Yen-Wen Wu; Chien-Sheng Wu; Ju-Ying Jiang; Gwo-Chin Ma; Ting-Yu Chang; Juey-Jen Hwang; Kuo-Jang Kao; Chen-Fang Hung; Ting-Fang Chiu; Po-Yueh Chen; Kochung Tsui; Ming-Shiang Wu; See-Tong Pang; Shih-Ann Chen; Wei-Ming Chen; Chun-houh Chen; Wayne Huey-Herng Sheu; Jer-Yuarn Wu
NatureIF48.5
2025-10-150PREAI
Hsin-Chou Yang; Pui-Yan Kwok; Ling-Hui Li; Yi-Min Liu; Yuh-Jyh Jong; Kang-Yun Lee; Da-Wei Wang; Ming-Fang Tsai; Jenn-Hwai Yang; Chien-Hsiun Chen; Erh-Chan Yeh; Chun-yu Wei; Cathy S.-J. Fann; Yen-Tsung Huang; Chia-Wei Chen; Yi-Ju Lee; Shih-Kai Chu; Chih-hsing Ho; Cheng-Shin Yang; Yungling Leo Lee; Hung-Hsin Chen; Ming-Chih Hou; Jeng-Fong Chiou; Shun-Fa Yang; Chih-Hung Wang; Chih-Yang Huang; Kuan-Ming Chiu; Ming Chen; Fu-Tien Chiang; Sing-Lian Lee; Shiou-Sheng Chen; Wei-Jen Yao; Chih-Cheng Chien; Shih-Yao Lin; Fu-Pang Chang; Hsiang-Ling Ho; Yi-Chen Yeh; Wei-Cheng Tseng; Ming-Hwai Lin; Hsiao-Ting Chang; Ling-Ming Tseng; Wen-Yih Liang; Paul Chih-Hsueh Chen; Jen-Fan Hang; Shih-Chieh Lin; Yu-Jiun Chan; Ying-Ju Kuo; Lei-Chi Wang; Chin-Chen Pan; Yu-Cheng Hsieh; Yi-Ming Chen; Tzu-Hung Hsiao; Ching‐Heng Lin; Yen-Ju Chen; I-Chieh Chen; Chien-Lin Mao; Shu-Jung Chang; Yen-Lin Chang; Yi‐Ju Liao; Chih-Hung Lai; Wei-Ju Lee; Hsin Tung; Ting-Ting Yen; Hsin-Chien Yen; Chun-Ming Shih; Teh-Ying Chou; Tsan-Hon Liou; Chen-Yuan Chiang; Yih-Giun Cherng; Chih-Hwa Chen; Chao-Hua Chiu; Sung-Hui Tseng; Emily Pei-Ying Lin; Ying-Ju Chen; Hui-Ping Chuang; Tsai-Chuan Chen; Wei-Ting Huang; Joey Sin; I-Ling Liu; Yi-Chen Chen; Kuo-Kuang Chao; Yu-Min Wu; Pin-Pin Yu; Lung-Pao Chang; Kuei-Yao Yen; Li-Ching Chang; Yi-Jing Sheen; Yuan-Tsong Chen; Kamhon Kan; Hsiang-Lin Tsai; Yao-Kuang Wang; Ming-Feng Hou; Yuan-Han Yang; Chao-Hung Kuo; Wen-Jeng Wu; Jee-Fu Huang; Inn-Wen Chong; Jong-Rung Tsai; Cheng-Yu Lin; Ming-Chin Yu; Tsong-Hai Lee; Meng-Han Tsai; Yu-Che Ou; Pin-Yuan Chen; Tsung-Hui Hu; Yu-Chiau Shyu; Chih-Kuang Cheng; Yu-Jen Fang; Song-Chou Hsieh; Chien-Hung Chen; Chieh-Chang Chen; Ko-Jen Li; Chin-Hsien Lin; Hsien-Yi Chiu; Chen-Chi Wu; Chun-Yen Chen; Shi-Jye Chu; Feng-Cheng Liu; Fu-Chi Yang; Hsin-An Chang; Wei-liang Chen; Sung-Sen Yang; Yueh-feng Sung; Tso-Fu Wang; Shinn-Zong Lin; Yen-Wen Wu; Chien-Sheng Wu; Ju-Ying Jiang; Gwo-Chin Ma; Ting-Yu Chang; Juey-Jen Hwang; Kuo-Jang Kao; Chen-Fang Hung; Ting-Fang Chiu; Po-Yueh Chen; Kochung Tsui; Ming-Shiang Wu; See-Tong Pang; Shih-Ann Chen; Wei-Ming Chen; Chun-houh Chen; Wayne Huey-Herng Sheu; Jer-Yuarn Wu.png){kind=icon}
Share.png){kind=icon}
SavePopulation-specific polygenic risk scores for people of Han Chinese ancestryNature2025-10-150
OAAIHung-Hsin Chen; Chien-Hsiun Chen; Ming-Chih Hou; Yun-Ching Fu; Ling-Hui Li; Che-Yu Chou; Erh-Chan Yeh; Ming-Fang Tsai; Chun-houh Chen; Hsin-Chou Yang; Yen-Tsung Huang; Yi-Min Liu; Chun-yu Wei; Jen-Ping Su; Wan-Jia Lin; Elin H. F. Wang; Chi-Lu Chiang; Jeng-Kai Jiang; I-Hui Lee; Kung-Hao Liang; Wei-Sheng Chen; Hung-Cheng Tsai; Shih-Yao Lin; Fu-Pang Chang; Hsiang-Ling Ho; Yi-Chen Yeh; Wei-Cheng Tseng; Ming-Hwai Lin; Hsiao-Ting Chang; Ling-Ming Tseng; Wen-Yih Liang; Paul Chih-Hsueh Chen; Yu-Cheng Hsieh; Yi-Ming Chen; Tzu-Hung Hsiao; Ching-Heng Lin; Yen-Ju Chen; I-Chieh Chen; Chien-Lin Mao; Shu-Jung Chang; Yen-Lin Chang; Yi-Ju Liao; Chih-Hung Lai; Wei-Ju Lee; Hsin Tung; Ting-Ting Yen; Hsin-Chien Yen; Ming-Yao Chen; Ying-Chin Lin; Yung-Ta Kao; Bi-Zhen Kao; Jing-Er Lee; Chi-Li Chung; Ju-Chi Liu; Paul Chan; Chang-Hsien Lin; Chia-Hsin Chen; I-Chen Wu; Lung-Chang Lin; Jiunn-Wei Wang; Shen-liang Shih; Sun-Wung Hsieh; Chih-Hsing Hung; Wei-Ming Li; Chih-Jen Yang; Cheng-Shin Yang; Ru-Hui Weng; Yu-Chi Chen; Chun-Ping Chang; Tai-Hsun Wu; Yu-Chang Lin; Yi-Jing Sheen; Shi-Heng Wang; Sye-Pu Chen; Timothy Raben; Erik Widen; Stephen Hsu; Feng-Jen Hsieh; Dong-Ru Ho; Yu-Huei Huang; Chung-Han Yang; Yu-Shu Huang; Yen-Fu Chen; Hsien-Ming Wu; Ping-Han Tsai; Kuan-Gen Huang; Chih-Yen Chien; Yi-Lwun Ho; Ming-Shiang Wu; Jia-Horng Kao; Yen-Bin Liu; Jyh-Ming Jimmy Juang; Mao-Hsin Lin; Yen-Hung Lin; Ji-Yuh Lee; Hsueh-Ju Lu; Chieh-Hua Lu; An-Chieh Feng; Jhih-Syuan Liu; Chien-Ping Chiang; Nain-Feng Chu; Jung-Chun Lin; Yi-Wei Yeh; En Meng; Chih-Yang Huang; Chi-Cheng Li; Tso-Fu Wang; Kuei-Ying Su; Jia-Kang Wang; Mei-Hsiu Chen; Hua-Fen Chen; Gwo-Chin Ma; Ting-Yu Chang; Fu-Tien Chiang; Hsing-Jung Chang; Kuo-Jang Kao; Chen-Fang Hung; Ching-Yao Tsai; Po-Yueh Chen; Kochung Tsui; Yuan-Tsong Chen; Pui-Yan Kwok; Wayne Huey-Herng Sheu; Shun-Fa Yang; Jyh-Ming Liou; Jaw-Yuan Wang; Jeng-Fong Chiou; Jer-Yuarn Wu; Cathy S. J. Fann
NatureIF48.5
2025-10-150OAAIHung-Hsin Chen; Chien-Hsiun Chen; Ming-Chih Hou; Yun-Ching Fu; Ling-Hui Li; Che-Yu Chou; Erh-Chan Yeh; Ming-Fang Tsai; Chun-houh Chen; Hsin-Chou Yang; Yen-Tsung Huang; Yi-Min Liu; Chun-yu Wei; Jen-Ping Su; Wan-Jia Lin; Elin H. F. Wang; Chi-Lu Chiang; Jeng-Kai Jiang; I-Hui Lee; Kung-Hao Liang; Wei-Sheng Chen; Hung-Cheng Tsai; Shih-Yao Lin; Fu-Pang Chang; Hsiang-Ling Ho; Yi-Chen Yeh; Wei-Cheng Tseng; Ming-Hwai Lin; Hsiao-Ting Chang; Ling-Ming Tseng; Wen-Yih Liang; Paul Chih-Hsueh Chen; Yu-Cheng Hsieh; Yi-Ming Chen; Tzu-Hung Hsiao; Ching-Heng Lin; Yen-Ju Chen; I-Chieh Chen; Chien-Lin Mao; Shu-Jung Chang; Yen-Lin Chang; Yi-Ju Liao; Chih-Hung Lai; Wei-Ju Lee; Hsin Tung; Ting-Ting Yen; Hsin-Chien Yen; Ming-Yao Chen; Ying-Chin Lin; Yung-Ta Kao; Bi-Zhen Kao; Jing-Er Lee; Chi-Li Chung; Ju-Chi Liu; Paul Chan; Chang-Hsien Lin; Chia-Hsin Chen; I-Chen Wu; Lung-Chang Lin; Jiunn-Wei Wang; Shen-liang Shih; Sun-Wung Hsieh; Chih-Hsing Hung; Wei-Ming Li; Chih-Jen Yang; Cheng-Shin Yang; Ru-Hui Weng; Yu-Chi Chen; Chun-Ping Chang; Tai-Hsun Wu; Yu-Chang Lin; Yi-Jing Sheen; Shi-Heng Wang; Sye-Pu Chen; Timothy Raben; Erik Widen; Stephen Hsu; Feng-Jen Hsieh; Dong-Ru Ho; Yu-Huei Huang; Chung-Han Yang; Yu-Shu Huang; Yen-Fu Chen; Hsien-Ming Wu; Ping-Han Tsai; Kuan-Gen Huang; Chih-Yen Chien; Yi-Lwun Ho; Ming-Shiang Wu; Jia-Horng Kao; Yen-Bin Liu; Jyh-Ming Jimmy Juang; Mao-Hsin Lin; Yen-Hung Lin; Ji-Yuh Lee; Hsueh-Ju Lu; Chieh-Hua Lu; An-Chieh Feng; Jhih-Syuan Liu; Chien-Ping Chiang; Nain-Feng Chu; Jung-Chun Lin; Yi-Wei Yeh; En Meng; Chih-Yang Huang; Chi-Cheng Li; Tso-Fu Wang; Kuei-Ying Su; Jia-Kang Wang; Mei-Hsiu Chen; Hua-Fen Chen; Gwo-Chin Ma; Ting-Yu Chang; Fu-Tien Chiang; Hsing-Jung Chang; Kuo-Jang Kao; Chen-Fang Hung; Ching-Yao Tsai; Po-Yueh Chen; Kochung Tsui; Yuan-Tsong Chen; Pui-Yan Kwok; Wayne Huey-Herng Sheu; Shun-Fa Yang; Jyh-Ming Liou; Jaw-Yuan Wang; Jeng-Fong Chiou; Jer-Yuarn Wu; Cathy S. J. FannShareSaveOptical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia2025-04-020
OAAITsai, Meng-Ju Melody; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Yu, Chih-Hsiang; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kwok, Pui-Yan; Yang, Yung-Li
2025-04-020OAAITsai, Meng-Ju Melody; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Yu, Chih-Hsiang; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kwok, Pui-Yan; Yang, Yung-LiShareSavePolygenic height prediction for the Han Chinese in TaiwanNPJ GENOMIC MEDICINE2025-02-050OAAIChang, 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
NPJ GENOMIC MEDICINEIF4.8
2025-02-050OAAIChang, 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-YanShareSaveCAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methodsGENOME BIOLOGY2024-02-2210OAAIJain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.
GENOME BIOLOGYIF9.4
2024-02-2210OAAIJain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.ShareSaveWhole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editingNATURE COMMUNICATIONS2023-08-2511OAAITsai, 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
NATURE COMMUNICATIONSIF15.7
2023-08-2511OAAITsai, 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, JohnShareSaveIdentification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth DiseaseNEUROLOGY-GENETICS2023-08-011OAAIHsueh, 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
NEUROLOGY-GENETICSIF3.7
2023-08-011OAAIHsueh, 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-TsangShareSaveSouth Asian medical cohorts reveal strong founder effects and high rates of homozygosityNATURE COMMUNICATIONS2023-06-088OAAIWall, Jeffrey D.; Sathirapongsasuti, J. Fah; Gupta, Ravi; Rasheed, Asif; Venkatesan, Radha; Belsare, Saurabh; Menon, Ramesh; Phalke, Sameer; Mittal, Anuradha; Fang, John; Tanneeru, Deepak; Deshmukh, Manjari; Bassi, Akshi; Robinson, Jacqueline; Chaudhary, Ruchi; Murugan, Sakthivel; ul-Asar, Zameer; Saleem, Imran; Ishtiaq, Unzila; Fatima, Areej; Sheikh, Saqib Shafi; Hameed, Shahid; Ishaq, Mohammad; Rasheed, Syed Zahed; Memon, Fazal-ur-Rehman; Jalal, Anjum; Abbas, Shahid; Frossard, Philippe; Fuchsberger, Christian; Forer, Lukas; Schoenherr, Sebastian; Bei, Qixin; Bhangale, Tushar; Tom, Jennifer; Gadde, Santosh Gopi Krishna; Priya, B., V; Naik, Naveen Kumar; Wang, Minxian; Kwok, Pui-Yan; Khera, Amit V.; Lakshmi, B. R.; Butterworth, Adam S.; Chowdhury, Rajiv; Danesh, John; di Angelantonio, Emanuele; Naheed, Aliya; Goyal, Vinay; Kandadai, Rukmini M.; Kumar, Hrishikesh; Borgohain, Rupam; Mukherjee, Adreesh; Wadia, Pettarusp M.; Yadav, Ravi; Desai, Soaham; Kumar, Niraj; Biswas, Atanu; Pal, Pramod Kumar; Muthane, Uday B.; Das, Shymal K.; Ramprasad, Vedam L.; Kukkle, Prashanth L.; Seshagiri, Somasekar; Kathiresan, Sekar; Ghosh, Arkasubhra; Mohan, V.; Saleheen, Danish; Stawiski, Eric W.; Peterson, Andrew S.
NATURE COMMUNICATIONSIF15.7
2023-06-088OAAIWall, Jeffrey D.; Sathirapongsasuti, J. Fah; Gupta, Ravi; Rasheed, Asif; Venkatesan, Radha; Belsare, Saurabh; Menon, Ramesh; Phalke, Sameer; Mittal, Anuradha; Fang, John; Tanneeru, Deepak; Deshmukh, Manjari; Bassi, Akshi; Robinson, Jacqueline; Chaudhary, Ruchi; Murugan, Sakthivel; ul-Asar, Zameer; Saleem, Imran; Ishtiaq, Unzila; Fatima, Areej; Sheikh, Saqib Shafi; Hameed, Shahid; Ishaq, Mohammad; Rasheed, Syed Zahed; Memon, Fazal-ur-Rehman; Jalal, Anjum; Abbas, Shahid; Frossard, Philippe; Fuchsberger, Christian; Forer, Lukas; Schoenherr, Sebastian; Bei, Qixin; Bhangale, Tushar; Tom, Jennifer; Gadde, Santosh Gopi Krishna; Priya, B., V; Naik, Naveen Kumar; Wang, Minxian; Kwok, Pui-Yan; Khera, Amit V.; Lakshmi, B. R.; Butterworth, Adam S.; Chowdhury, Rajiv; Danesh, John; di Angelantonio, Emanuele; Naheed, Aliya; Goyal, Vinay; Kandadai, Rukmini M.; Kumar, Hrishikesh; Borgohain, Rupam; Mukherjee, Adreesh; Wadia, Pettarusp M.; Yadav, Ravi; Desai, Soaham; Kumar, Niraj; Biswas, Atanu; Pal, Pramod Kumar; Muthane, Uday B.; Das, Shymal K.; Ramprasad, Vedam L.; Kukkle, Prashanth L.; Seshagiri, Somasekar; Kathiresan, Sekar; Ghosh, Arkasubhra; Mohan, V.; Saleheen, Danish; Stawiski, Eric W.; Peterson, Andrew S.ShareSaveWhole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia2022-06-012OAAIDong, Weila; Wong, Karen H. Y.; Liu, Youbin; Levy-Sakin, Michal; Hung, Wei-Chien; Li, Mo; Li, Boyang; Jin, Sheng Chih; Choi, Jungmin; Lopez-Giraldez, Francesc; Vaka, Dedeepya; Poon, Annie; Chu, Catherine; Lao, Richard; Balamir, Melek; Movsesyan, Irina; Malloy, Mary J.; Zhao, Hongyu; Kwok, Pui-Yan; Kane, John P.; Lifton, Richard P.; Pullinger, Clive R.
2022-06-012OAAIDong, Weila; Wong, Karen H. Y.; Liu, Youbin; Levy-Sakin, Michal; Hung, Wei-Chien; Li, Mo; Li, Boyang; Jin, Sheng Chih; Choi, Jungmin; Lopez-Giraldez, Francesc; Vaka, Dedeepya; Poon, Annie; Chu, Catherine; Lao, Richard; Balamir, Melek; Movsesyan, Irina; Malloy, Mary J.; Zhao, Hongyu; Kwok, Pui-Yan; Kane, John P.; Lifton, Richard P.; Pullinger, Clive R.ShareSaveGenome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population2021-05-209OAAIWu, Lawrence Shih-Hsin; Huang, Ming-Chyi; Fann, Cathy Shen-Jang; Lane, Hsien-Yuan; Kuo, Chian-Jue; Chiu, Wei-Che; Kwok, Pui-Yan; Cheng, Andrew Tai-Ann
2021-05-209OAAIWu, Lawrence Shih-Hsin; Huang, Ming-Chyi; Fann, Cathy Shen-Jang; Lane, Hsien-Yuan; Kuo, Chian-Jue; Chiu, Wei-Che; Kwok, Pui-Yan; Cheng, Andrew Tai-AnnShareSaveGenomic Variation and Recent Population Histories of Spotted (Strix occidentalis) and Barred (Strix varia) Owls2021-03-252OAAIFujito, Naoko T.; Hanna, Zachary R.; Levy-Sakin, Michal; Bowie, Rauri C. K.; Kwok, Pui-Yan; Dumbacher, John P.; Wall, Jeffrey D.
2021-03-252OAAIFujito, Naoko T.; Hanna, Zachary R.; Levy-Sakin, Michal; Bowie, Rauri C. K.; Kwok, Pui-Yan; Dumbacher, John P.; Wall, Jeffrey D.ShareSaveInvestigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Jan, 10.1038/s41380-020-01006-9, 2021)MOLECULAR PSYCHIATRY2021-03-050OAAIJia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Chapman, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J.
MOLECULAR PSYCHIATRYIF10.1
2021-03-050OAAIJia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Chapman, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J.ShareSaveInvestigating rare pathogenic/likely pathogenic exonic variation in bipolar disorderMOLECULAR PSYCHIATRY2021-01-2214OAAIJia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Champion, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J.
MOLECULAR PSYCHIATRYIF10.1
2021-01-2214OAAIJia, Xiaoming; Goes, Fernando S.; Locke, Adam E.; Palmer, Duncan; Wang, Weiqing; Cohen-Woods, Sarah; Genovese, Giulio; Jackson, Anne U.; Jiang, Chen; Kvale, Mark; Mullins, Niamh; Nguyen, Hoang; Pirooznia, Mehdi; Rivera, Margarita; Ruderfer, Douglas M.; Shen, Ling; Thai, Khanh; Zawistowski, Matthew; Zhuang, Yongwen; Abecasis, Goncalo; Akil, Huda; Bergen, Sarah; Burmeister, Margit; Champion, Sinead; DelaBastide, Melissa; Jureus, Anders; Kang, Hyun Min; Kwok, Pui-Yan; Li, Jun Z.; Levy, Shawn E.; Monson, Eric T.; Moran, Jennifer; Sobell, Janet; Watson, Stanley; Willour, Virginia; Zollner, Sebastian; Adolfsson, Rolf; Blackwood, Douglas; Boehnke, Michael; Breen, Gerome; Corvin, Aiden; Craddock, Nick; DiFlorio, Arianna; Hultman, Christina M.; Landen, Mikael; Lewis, Cathryn; McCarroll, Steven A.; Richard McCombie, W.; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Morris, Derek; Myers, Richard M.; O'Donovan, Michael; Ophoff, Roel; Boks, Marco; Kahn, Rene; Ouwehand, Willem; Owen, Michael; Pato, Carlos; Pato, Michele; Posthuma, Danielle; Potash, James B.; Reif, Andreas; Sklar, Pamela; Smoller, Jordan; Sullivan, Patrick F.; Vincent, John; Walters, James; Neale, Benjamin; Purcell, Shaun; Risch, Neil; Schaefer, Catherine; Stahl, Eli A.; Zandi, Peter P.; Scott, Laura J.ShareSaveGenomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variationGENETICS2021-01-0610OAAIMostovoy, Yulia; Yilmaz, Feyza; Chow, Stephen K.; Chu, Catherine; Lin, Chin; Geiger, Elizabeth A.; Meeks, Naomi J. L.; Chatfield, Kathryn C.; Coughlin, Curtis R.; Surti, Urvashi; Kwok, Pui-Yan; Shaikh, Tamim H.
GENETICSIF5.1
2021-01-0610OAAIMostovoy, Yulia; Yilmaz, Feyza; Chow, Stephen K.; Chu, Catherine; Lin, Chin; Geiger, Elizabeth A.; Meeks, Naomi J. L.; Chatfield, Kathryn C.; Coughlin, Curtis R.; Surti, Urvashi; Kwok, Pui-Yan; Shaikh, Tamim H.ShareSaveMutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep TraitCURRENT BIOLOGY2021-01-0124OAAIShi, Guangsen; Yin, Chen; Fan, Zenghua; Xing, Lijuan; Mostovoy, Yulia; Kwok, Pui-Yan; Ashbrook, Liza H.; Krystal, Andrew D.; Ptacek, Louis J.; Fu, Ying-Hui
CURRENT BIOLOGYIF7.5
2021-01-0124OAAIShi, Guangsen; Yin, Chen; Fan, Zenghua; Xing, Lijuan; Mostovoy, Yulia; Kwok, Pui-Yan; Ashbrook, Liza H.; Krystal, Andrew D.; Ptacek, Louis J.; Fu, Ying-HuiShareSaveA Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer SusceptibilityCANCER RESEARCH2020-12-0815OAAIEmami, Nima C.; Cavazos, Taylor B.; Rashkin, Sara R.; Cario, Clinton L.; Graff, Rebecca E.; Tai, Caroline G.; Mefford, Joel A.; Kachuri, Linda; Wan, Eunice; Wong, Simon; Aaronson, David; Presti, Joseph; Habel, Laurel A.; Shan, Jun; Ranatunga, Dilrini K.; Chao, Chun R.; Ghai, Nirupa R.; Jorgenson, Eric; Sakoda, Lori C.; Kvale, Mark N.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil; Hoffmann, Thomas J.; Van Den Eeden, Stephen K.; Witte, John S.
CANCER RESEARCHIF16.6
2020-12-0815OAAIEmami, Nima C.; Cavazos, Taylor B.; Rashkin, Sara R.; Cario, Clinton L.; Graff, Rebecca E.; Tai, Caroline G.; Mefford, Joel A.; Kachuri, Linda; Wan, Eunice; Wong, Simon; Aaronson, David; Presti, Joseph; Habel, Laurel A.; Shan, Jun; Ranatunga, Dilrini K.; Chao, Chun R.; Ghai, Nirupa R.; Jorgenson, Eric; Sakoda, Lori C.; Kvale, Mark N.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil; Hoffmann, Thomas J.; Van Den Eeden, Stephen K.; Witte, John S.ShareSaveAccurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C dataGIGASCIENCE2020-12-0719OAAIBatra, Sanjit Singh; Levy-Sakin, Michal; Robinson, Jacqueline; Guillory, Joseph; Durinck, Steffen; Vilgalys, Tauras P.; Kwok, Pui-Yan; Cox, Laura A.; Seshagiri, Somasekar; Song, Yun S.; Wall, Jeffrey D.
GIGASCIENCEIF3.9
2020-12-0719OAAIBatra, Sanjit Singh; Levy-Sakin, Michal; Robinson, Jacqueline; Guillory, Joseph; Durinck, Steffen; Vilgalys, Tauras P.; Kwok, Pui-Yan; Cox, Laura A.; Seshagiri, Somasekar; Song, Yun S.; Wall, Jeffrey D.ShareSaveTowards a reference genome that captures global genetic diversityNATURE COMMUNICATIONS2020-10-3028OAAIWong, 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
NATURE COMMUNICATIONSIF15.7
2020-10-3028OAAIWong, 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-YanShareSaveThe role of exome sequencing in newborn screening for inborn errors of metabolismNATURE MEDICINE2020-08-10137OAAIAdhikari, Aashish N.; Gallagher, Renata C.; Wang, Yaqiong; Currier, Robert J.; Amatuni, George; Bassaganyas, Laia; Chen, Flavia; Kundu, Kunal; Kvale, Mark; Mooney, Sean D.; Nussbaum, Robert L.; Randi, Savanna S.; Sanford, Jeremy; Shieh, Joseph T.; Srinivasan, Rajgopal; Sunderam, Uma; Tang, Hao; Vaka, Dedeepya; Zou, Yangyun; Koenig, Barbara A.; Kwok, Pui-Yan; Risch, Neil; Puck, Jennifer M.; Brenner, Steven E.
NATURE MEDICINEIF50
2020-08-10137OAAIAdhikari, Aashish N.; Gallagher, Renata C.; Wang, Yaqiong; Currier, Robert J.; Amatuni, George; Bassaganyas, Laia; Chen, Flavia; Kundu, Kunal; Kvale, Mark; Mooney, Sean D.; Nussbaum, Robert L.; Randi, Savanna S.; Sanford, Jeremy; Shieh, Joseph T.; Srinivasan, Rajgopal; Sunderam, Uma; Tang, Hao; Vaka, Dedeepya; Zou, Yangyun; Koenig, Barbara A.; Kwok, Pui-Yan; Risch, Neil; Puck, Jennifer M.; Brenner, Steven E.ShareSaveDe novo mutation and skewed X-inactivation in girl withBCAP31-related syndromeHUMAN MUTATION2020-07-227OAAIKao, 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
HUMAN MUTATIONIF3.7
2020-07-227OAAIKao, 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-ChungShareSaveResearch Directions
No research directions