Dr. Kwok, Pui-Yan 's publons link picture

Dr. Kwok, Pui-Yan

Emeritus Research Fellow
Academician, Academia Sinica
Specialty:
  • Human genetics
  • Genomics
  • DNA sequence variation
  • Complex trait analysis,
  • Pharmacogenetics
  • Biotechnology
Education and Positions:
    • M.D. University of Chicago, Chicago, Pritzker School of Medicine, IL
    • Ph.D. University of Chicago, Chicago, IL

Dr. Kwok, Pui-Yan 's
Publications

Journal 269 Book 0

  1. Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptacek LJ, Fu YH Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait. Current biology : CB 31(1), 13-24.e4 (2021) [JCR] [WOS]
  2. Batra SS, Levy-Sakin M, Robinson J, Guillory J, Durinck S, Vilgalys TP, Kwok PY, Cox LA, Seshagiri S, Song YS, Wall JD Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data. GigaScience 9(12), giaa134 (2020) [JCR] [WOS]
  3. Nandakumar Priyanka, Lee Dongwon, Hoffmann Thomas J, Ehret Georg B, Arking Dan, Ranatunga Dilrini, Li Man, Grove Megan L, Boerwinkle Eric, Schaefer Catherine, Kwok Pui-Yan, Iribarren Carlos, Risch Neil, Chakravarti Aravinda Analysis of putative cis-regulatory elements regulating blood pressure variation Human Molecular Genetics 29(11) 1922-1932 (2020) [JCR] [WOS]
  4. Young Eleanor, Abid Heba Z., Kwok Pui-Yan, Riethman Harold, Xiao Ming Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping PLOS Genetics 16(1) e1008347 (2020) [JCR] [WOS]
  5. 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 De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome Human Mutation 41(10), 1775-1782 (2020) [JCR] [WOS]
  6. Adhikari Aashish N., Currier Robert J., Tang Hao, Turgeon Coleman T., Nussbaum Robert L., Srinivasan Rajgopal, Sunderam Uma, Kwok Pui-Yan, Brenner Steven E., Gavrilov Dimitar, Puck Jennifer M., Gallagher Renata Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing International Journal of Neonatal Screening 6(2) 41 (2020) [JCR] [WOS]
  7. Shi Guangsen, Yin Chen, Fan Zenghua, Xing Lijuan, Mostovoy Yulia, Kwok Pui-Yan, Ashbrook Liza H., Krystal Andrew D., Ptáček Louis J., Fu Ying-Hui Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait Current Biology (2020) [JCR] [WOS]
  8. Adhikari 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. The role of exome sequencing in newborn screening for inborn errors of metabolism Nature Medicine 26(9) 1392-1397 (2020) [JCR] [WOS]
  9. 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 Towards a reference genome that captures global genetic diversity Nature Communications 11(1), 5482 (2020) [JCR] [WOS]
  10. Belsare Saurabh, Levy-Sakin Michal, Mostovoy Yulia, Durinck Steffen, Chaudhuri Subhra, Xiao Ming, Peterson Andrew S., Kwok Pui-Yan, Seshagiri Somasekar, Wall Jeffrey D. Evaluating the quality of the 1000 genomes project data BMC Genomics 20(1) (2019) [JCR] [WOS]
Dr. Chern, Yijuang's Lab