De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

by Karen H. Y. Wong, Michal Levy-Sakin, Pui-Yan Kwok
Published 2018-08-01

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.

by Eleanor Young, Heba Z Abid, Pui-Yan Kwok, Harold Riethman, Ming Xiao
Published 2020-01-01

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.

by Xavier Estivill, Nancy J Cox, Stephen J Chanock, Pui-Yan Kwok, Stephen W Scherer, Anthony J Brookes
Published 2008-04-01

A genetic risk score combining ten psoriasis risk loci improves disease prediction.

by Haoyan Chen, Annie Poon, Celestine Yeung, Cynthia Helms, Jennifer Pons, Anne M Bowcock, Pui-Yan Kwok, Wilson Liao
Published 2011-04-01

Known mutations of apoB account for only a small minority of hypobetalipoproteinemia

by Jingshi Wu, Jeongho Kim, Qun Li, Pui-Yan Kwok, Thomas G. Cole, Baldassare Cefalu, Maurizio Averna, Gustav Schonfeld
Published 1999-05-01

Evaluating the quality of the 1000 genomes project data

by Saurabh Belsare, Michal Levy-Sakin, Yulia Mostovoy, Steffen Durinck, Subhra Chaudhuri, Ming Xiao, Andrew S. Peterson, Pui-Yan Kwok, Somasekar Seshagiri, Jeffrey D. Wall
Published 2019-08-01

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

by Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek
Published 2017-09-01

Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population

by Lawrence Shih-Hsin Wu, Ming-Chyi Huang, Cathy Shen-Jang Fann, Hsien-Yuan Lane, Chian-Jue Kuo, Wei-Che Chiu, Pui-Yan Kwok, Andrew Tai-Ann Cheng
Published 2021-05-01

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.

by Daniel S Evans, Melissa A Calton, Mee J Kim, Pui-Yan Kwok, Iva Miljkovic, Tamara Harris, Annemarie Koster, Yongmei Liu, Gregory J Tranah, Nadav Ahituv, Wen-Chi Hsueh, Christian Vaisse
Published 2014-01-01

Correction: Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate De Novo Sequence Assembly of the Complex Aegilops tauschii Genome

by Alex R. Hastie, Lingli Dong, Alexis Smith, Jeff Finklestein, Ernest T. Lam, Naxin Huo, Han Cao, Pui-Yan Kwok, Karin R. Deal, Jan Dvorak, Ming-Cheng Luo, Yong Gu, Ming Xiao
Published 2013-01-01

Correction: Rapid Genome Mapping in Nanochannel Arrays for Highly Complete and Accurate Sequence Assembly of the Complex Genome.

by Alex R. Hastie, Lingli Dong, Alexis Smith, Jeff Finklestein, Ernest T. Lam, Naxin Huo, Han Cao, Pui-Yan Kwok, Karin R. Deal, Jan Dvorak, Ming-Cheng Luo, Yong Gu, Ming Xiao
Published 2013-01-01

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...

by Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar Gavrilov, Jennifer M. Puck, Renata Gallagher
Published 2020-05-01

Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome.

by Alex R Hastie, Lingli Dong, Alexis Smith, Jeff Finklestein, Ernest T Lam, Naxin Huo, Han Cao, Pui-Yan Kwok, Karin R Deal, Jan Dvorak, Ming-Cheng Luo, Yong Gu, Ming Xiao
Published 2013-01-01

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.

by Nasrine Bendjilali, Helen Kim, Shantel Weinsheimer, Diana E Guo, Pui-Yan Kwok, Jonathan G Zaroff, Stephen Sidney, Michael T Lawton, Charles E McCulloch, Bobby P C Koeleman, Catharina J M Klijn, William L Young, Ludmila Pawlikowska
Published 2013-01-01

A common variant in the telomerase RNA component is associated with short telomere length.

by Omer T Njajou, Elizabeth H Blackburn, Ludmila Pawlikowska, Massimo Mangino, Coleen M Damcott, Pui-Yan Kwok, Timothy D Spector, Anne B Newman, Tamara B Harris, Steven R Cummings, Richard M Cawthon, Alan R Shuldiner, Ana M Valdes, Wen-Chi Hsueh
Published 2010-09-01

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

by Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger
Published 2019-12-01

An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients*s⃞

by Clive R. Pullinger, Bradley E. Aouizerat, Irina Movsesyan, Vincent Durlach, Eric J. Sijbrands, Katsuyuki Nakajima, Annie Poon, Geesje M. Dallinga-Thie, Hiroaki Hattori, Lauri L. Green, Pui-Yan Kwok, Richard J. Havel, Philip H. Frost, Mary J. Malloy, John P. Kane
Published 2008-08-01

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

by Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek
Published 2010-05-01

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

by Ying Liu, Cynthia Helms, Wilson Liao, Lisa C Zaba, Shenghui Duan, Jennifer Gardner, Carol Wise, Andrew Miner, M J Malloy, Clive R Pullinger, John P Kane, Scott Saccone, Jane Worthington, Ian Bruce, Pui-Yan Kwok, Alan Menter, James Krueger, Anne Barton, Nancy L Saccone, Anne M Bowcock
Published 2008-03-01

Application of full-genome analysis to diagnose rare monogenic disorders

by Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne 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
Published 2021-09-01