Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. by Eleanor Young, Heba Z Abid, Pui-Yan Kwok, Harold Riethman, Ming Xiao

Get full text

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

Get full text

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

Get full text

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

Get full text

Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing by Hsiu-Hui Tsai, Hsiao-Jung Kao, Ming-Wei Kuo, Chin-Hsien Lin, Chun-Min Chang, Yi-Yin Chen, Hsiao-Huei Chen, Pui-Yan Kwok, Alice L. Yu, John Yu

Get full text

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

Get full text

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

Get full text

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing by Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle

Get full text

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

Get full text

Circulating n-3 fatty acids and trans-fatty acids, PLA2G2A gene variation and sudden cardiac arrest by Rozenn N. Lemaitre, Traci M. Bartz, Irena B. King, Jennifer A. Brody, Barbara McKnight, Nona Sotoodehnia, Thomas D. Rea, Catherine O. Johnson, Dariush Mozaffarian, Stephanie Hesselson, Pui-Yan Kwok, David S. Siscovick

Get full text

O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort by Teresa Sparks, Billie Lianoglou, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Pui-Yan Kwok, Sara Ackerman, Anne Slavotinek, Neil Risch, Mary Norton

Get full text

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population by Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A. Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch

Get full text

O40: Clinical utility of prenatal exome sequencing in a diverse cohort* by Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Lack of support for the association between GAD2 polymorphisms and severe human obesity. by Michael M Swarbrick, Björn Waldenmaier, Len A Pennacchio, Denise L Lind, Martha M Cavazos, Frank Geller, Raphael Merriman, Anna Ustaszewska, Mary Malloy, André Scherag, Wen-Chi Hsueh, Winfried Rief, Franck Mauvais-Jarvis, Clive R Pullinger, John P Kane, Robert Dent, Ruth McPherson, Pui-Yan Kwok, Anke Hinney, Johannes Hebebrand, Christian Vaisse

Get full text