Pui-Yan Kwok

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 20

Top Venues

NPJ genomic medicine

Nature communications

Human mutation

Nature medicine

Academia Sinica

University of Chicago (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Academia Sinica Oct 01 2017

Taiwan

Director :: Institute of Biomedical Sciences

University of California San Francisco School of Medicine Apr 01 2002

United States

Henry Bachrach Distinguished Professor :: Dermatology, Cardiovascular Research Institute, Institute for Human Genetics

Washington University in Saint Louis School of Medicine Jul 01 1993 - Mar 31 2002

United States

Assistant Professor/Associate Professor :: Dermatology and Genetics

Education History

University of Chicago Sep 23 1979 - Dec 13 1985

United States

PHD :: Chemistry

University of Chicago Sep 27 1977 - Jun 10 1981

United States

MSC :: Human Biology

Publications

Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W Patrick Devine, Sara L Ackerman, Barbara Ann Koenig, Pui-Yan Kwok, Mary E Norton, Anne Slavotinek, Neil Risch
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ genomic medicine 9 (1) (2024)
Jeffrey D Wall, J Fah Sathirapongsasuti, Ravi Gupta, Asif Rasheed, Venkatesan Radha, Saurabh Belsare, Ramesh Menon, Sameer Phalke, Anuradha Mittal, John Z Fang, Deepak Tanneeru, Manjari Deshmukh, Akshi Bassi, Jacqueline A Robinson, Ruchi Chaudhary, Sakthivel Murugan, Zameer Ul-Asar, Imran Saleem, Unzila Ishtiaq, Areej Fatima, Saqib Shafi Sheikh, Shahid Hameed, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Anjum Jalal, Shahid Abbas, Philippe Frossard, Christian Fuchsberger, Lukas Forer, Sebastian Schoenherr, Qixin Bei, Tushar Bhangale, Jennifer Tom, Santosh Gopi Krishna Gadde, Priya B V, Naveen Kumar Naik, Minxian Wang, Pui-Yan Kwok, Amit V Khera, B R Lakshmi, Adam S Butterworth, Rajiv Chowdhury, John Danesh, Emanuele di Angelantonio, Aliya Naheed, Vinay Goyal, Rukmini M Kandadai, Hrishikesh Kumar, Rupam Borgohain, Adreesh Mukherjee, Pettarusp M Wadia, Ravi Yadav, Soaham Dilip Desai, Niraj Kumar, Atanu Biswas, Pramod Kumar Pal, Uday B Muthane, Shymal K Das, Vedam L Ramprasad, Prashanth Lingappa Kukkle, Somasekar Seshagiri, Sekar Kathiresan, Arkasubhra Ghosh, Viswanathan Mohan, Danish Saleheen, Eric W Stawiski, Andrew S Peterson
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity. Nature communications 14 (1) (2023)
Chun-Yu Wei, Jenn-Hwai Yang, Erh-Chan Yeh, Ming-Fang Tsai, Hsiao-Jung Kao, Chen-Zen Lo, Lung-Pao Chang, Wan-Jia Lin, Feng-Jen Hsieh, Saurabh Belsare, Anand Bhaskar, Ming-Wei Su, Te-Chang Lee, Yi-Ling Lin, Fu-Tong Liu, Chen-Yang Shen, Ling-Hui Li, Chien-Hsiun Chen, Jeffrey D Wall, Jer-Yuarn Wu, Pui-Yan Kwok
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ genomic medicine 6 (1) (2021)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Xiaoming Jia, Fernando S Goes, Adam E Locke, Duncan S Palmer, Weiqing Wang, Sarah Cohen-Woods, Giulio Genovese, Anne U Jackson, Chen Jiang, Mark Kvale, Niamh Mullins, Tan-Hoang Nguyen, Mehdi Pirooznia, Margarita Rivera, Douglas M Ruderfer, Ling Shen, Khanh Thai, Matthew Zawistowski, Yongwen Zhuang, Gonçalo R Abecasis, Huda Akil, Sarah E Bergen, Margit Burmeister, Sinéad Chapman, Melissa DelaBastide, Anders Juréus, Hyun Min Kang, Pui-Yan Kwok, Jun Z Li, Shawn E Levy, Eric T Monson, Jennifer Moran, Janet Sobell, Stanley J Watson, Virginia Willour, Sebastian Zöllner, Rolf Adolfsson, Douglas H R Blackwood, Michael Boehnke, Gerome D Breen, Aiden Corvin, Nick Craddock, Arianna DiFlorio, Christina M Hultman, Mikaél Landén, Cathryn M Lewis, Steven A McCarroll, W Richard McCombie, Peter McGuffin, Andrew M McIntosh, Andrew McQuillin, Derek W Morris, Richard M Myers, Michael C O'Donovan, Roel Ophoff, Marco P M Boks, Rene S Kahn, Willem Hendrik Ouwehand, Michael J Owen, Carlos Pato, Michele Pato, Danielle Posthuma, James B Potash, Andreas Reif, Pamela Sklar, Jordan Smoller, Patrick F Sullivan, John B Vincent, James Walters, Benjamin M Neale, Shaun M Purcell, Neil Risch, Catherine Schaefer, Eli A Stahl, Peter P Zandi, Laura J Scott
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Molecular psychiatry 26 (9) (2021)
Joonhee Park, Jay C Daniels, Tim Wartewig, Kimberly G Ringbloom, Maria Estela Martinez Escala, Sara Choi, Jane J Thomas, Peter G Doukas, Jingyi Yang, Caroline Snowden, Calvin Law, Yujin Lee, Katie Lee, Yancong Zhang, Carly Conran, Kyle Tegtmeyer, Samuel H Mo, David Randall Pease, Balaji Jothishankar, Pui-Yan Kwok, Farah R Abdulla, Barbara Pro, Abner Louissaint, Titus J Boggon, Jeffrey Sosman, Joan Guitart, Deepak A Rao, Juergen Ruland, Jaehyuk Choi
Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity. Blood 138 (14) (2021)
Karen H Y Wong, Walfred Ma, Chun-Yu Wei, Erh-Chan Yeh, Wan-Jia Lin, Elin H F Wang, Jen-Ping Su, Feng-Jen Hsieh, Hsiao-Jung Kao, Hsiao-Huei Chen, Stephen K Chow, Eleanor Young, Catherine Chu, Annie Poon, Chi-Fan Yang, Dar-Shong Lin, Yu Feng Hu, Jer-Yuarn Wu, Hung-Chang Lee, Wuh-Liang Hwu, Dario Boffelli, David Martin, Ming Xiao, Pui-Yan Kwok
Towards a reference genome that captures global genetic diversity. Nature communications 11 (1) (2020)
Eleanor Young, Guimei Yu, Pui-Yan Kwok, Harold Riethman, Ming Xiao
Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. PLoS genetics 16 (1) (2020)
Lijuan Xing, Guangsen Shi, Yulia Mostovoy, Nicholas W Gentry, Zenghua Fan, Thomas B McMahon, Pui-Yan Kwok, Christopher R Jones, Louis J Ptáček, Ying-Hui Fu
Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Science translational medicine 11 (514) (2020)
Aashish N Adhikari, Renata C Gallagher, Yaqiong Wang, Robert J Currier, George Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, Mark Kvale, Sean D Mooney, Robert L Nussbaum, Savanna S Randi, Jeremy Sanford, Joseph T Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yangyun Zou, Barbara Ann Koenig, Pui-Yan Kwok, Neil Risch, Jennifer M Puck, Steven E Brenner
The role of exome sequencing in newborn screening for inborn errors of metabolism. Nature medicine 26 (9) (2020)
Hsiao-Jung Kao, Hung-Lun Chiang, Hsiao-Huei Chen, Pi-Chuan Fan, Yi-Fang Tu, Yen-Yin Chou, Wuh-Liang Hwu, Chien-Ling Lin, Pui-Yan Kwok, Ni-Chung Lee
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. Human mutation 41 (10) (2020)
Michal Levy-Sakin, Steven Pastor, Yulia Mostovoy, Le Li, Alden K Y Leung, Jennifer McCaffrey, Eleanor Young, Ernest T Lam, Alex R Hastie, Karen H Y Wong, Claire Yik-Lok Chung, Walfred Ma, Justin Sibert, Ramakrishnan Rajagopalan, Nana Jin, Eugene Y C Chow, Catherine Chu, Annie Poon, Chin Lin, Ahmed Naguib, Wei-Ping Wang, Han Cao, Ting-Fung Chan, Kevin Y Yip, Ming Xiao, Pui-Yan Kwok
Genome maps across 26 human populations reveal population-specific patterns of structural variation. Nature communications 10 (1) (2019)
Abigail L Lind, Yvonne Y Y Lai, Yulia Mostovoy, Alisha K Holloway, Alessio Iannucci, Angel C Y Mak, Marco Fondi, Valerio Orlandini, Walter L Eckalbar, Massimo Milan, Michail Rovatsos, Ilya G Kichigin, Alexey I Makunin, Martina Johnson Pokorná, Marie Altmanová, Vladimir A Trifonov, Elio Schijlen, Lukáš Kratochvíl, Renato Fani, Petr Velenský, Ivan Rehák, Tomaso Patarnello, Tim S Jessop, James W Hicks, Oliver A Ryder, Joseph R Mendelson, Claudio Ciofi, Pui-Yan Kwok, Katherine S Pollard, Benoit G Bruneau
Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards. Nature ecology & evolution 3 (8) (2019)
Thomas J Hoffmann, Elizabeth Theusch, Tanushree Haldar, Dilrini K Ranatunga, Eric Jorgensen, Marisa W Medina, Mark N Kvale, Pui-Yan Kwok, Catherine Schaefer, Ronald M Krauss, Carlos Iribarren, Neil Risch
A large electronic-health-record-based genome-wide study of serum lipids. Nature genetics 50 (3) (2018)
Karen H Y Wong, Michal Levy-Sakin, Pui-Yan Kwok
De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. Nature communications 9 (1) (2018)
Laia Bassaganyas, George Freedman, Dedeepya Vaka, Eunice Wan, Richard Lao, Flavia Chen, Mark Kvale, Robert J Currier, Jennifer M Puck, Pui-Yan Kwok
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Human mutation 39 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Pui-Yan Kwok