Pui-yan Kwok: search on Z-Library

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101

In the Wrong Place with the Wrong SNP

Mooney, Stephen J., Grady, Stephanie T., Sotoodehnia, Nona, Lemaitre, Rozenn N., Wallace, Erin R., Mohanty, April F., Yee, Jean, Siscovick, David S., Rea, Thomas D., McKnight, Barbara, Kwok, Pui-Yan,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.35 MB

english, 2016

102

Whole Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis

Mak, Angel CY, Tang, Paul LF, Cleveland, Clare, Smith, Melanie H, Connolly, M Kari, Katsumoto, Tamiko R, Wolters, Paul J, Kwok, Pui-Yan, Criswell, Lindsey A

Journal:

Arthritis & Rheumatology

Year:

2016

Language:

english

File:

PDF, 798 KB

english, 2016

103

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1

Ha Choi, Ji, Wah Yee, Sook, Kim, Mee J., Nguyen, Loan, Ho Lee, Jeong, Kang, Ji-One, Hesselson, Stephanie, Castro, Richard A., Stryke, Doug, Johns, Susan J., Kwok, Pui-Yan, Ferrin, Thomas E., Goo Lee,

Journal:

Pharmacogenetics and Genomics

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

104

Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis

Kaspera, Rüdiger, Naraharisetti, Suresh B., Tamraz, Bani, Sahele, Tariku, Cheesman, Matthew J., Kwok, Pui-Yan, Marciante, Kristin, Heckbert, Susan R., Psaty, Bruce M., Totah, Rheem A.

Journal:

Pharmacogenetics and Genomics

Year:

2010

Language:

english

File:

PDF, 329 KB

english, 2010

105

Alternative splicing for the α1 subunit of soluble guanylate cyclase

RITTER, Detlef, TAYLOR, James F., HOFFMANN, Joseph W., CARNAGHI, Lynn, GIDDINGS, Stephen J., ZAKERI, Hamideh, KWOK, Pui-Yan

Journal:

Biochemical Journal

Year:

2000

Language:

english

File:

PDF, 168 KB

english, 2000

106

Alternative splicing for the α1 subunit of soluble guanylate cyclase

RITTER, Detlef, TAYLOR, James F., HOFFMANN, Joseph W., CARNAGHI, Lynn, GIDDINGS, Stephen J., ZAKERI, Hamideh, KWOK, Pui-Yan

Journal:

Biochemical Journal

Year:

2000

Language:

english

File:

PDF, 168 KB

english, 2000

107

OMBlast: Alignment Tool for Optical Mapping Using a Seed-and-extend Approach

Leung, Alden King-Yung, Kwok, Tsz-Piu, Wan, Raymond, Xiao, Ming, Kwok, Pui-Yan, Yip, Kevin Y., Chan, Ting-Fung

Journal:

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

108

Single Nucleotide Polymorphisms Volume 212 || Homogeneous Primer Extension Assay With Fluorescence Polarization Detection

Year:

2002

Language:

english

File:

PDF, 155 KB

english, 2002

109

Gestational Weight Gain with Offspring Longitudinal Change in

Savitsky, Bella, Granot-hershkovitz, Einat, Lumley, Thomas, Kwok, Pui-yan

Year:

2014

Language:

english

File:

PDF, 336 KB

english, 2014

110

High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres

Young, Eleanor, Pastor, Steven, Rajagopalan, Ramakrishnan, McCaffrey, Jennifer, Sibert, Justin, Mak, Angel C.Y., Kwok, Pui-Yan, Riethman, Harold, Xiao, Ming

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 4.85 MB

english, 2017

111

Overlapping Genomic Sequences: A Treasure Trove of Single-Nucleotide Polymorphisms

Taillon-Miller, Patricia, Gu, Zhijie, Li, Qun, Hillier, LaDeana, Kwok, Pui-Yan

Journal:

Genome Research

Year:

1998

Language:

english

File:

PDF, 436 KB

english, 1998

112

Genome-wide association studies getting more complicated but help is on the way

Journal:

Year:

2006

Language:

english

File:

PDF, 120 KB

english, 2006

113

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1

Slavotinek, Anne, Pua, Heather, Hodoglugil, Ugur, Abadie, Jude, Shieh, Joseph, Van Ziffle, Jessica, Kvale, Mark, Lee, Hane, Kwok, Pui-Yan, Risch, Neil, Sabbadini, Marta

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 524 KB

english, 2017

114

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

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

Journal:

American Journal of Ophthalmology Case Reports

Year:

2017

Language:

english

File:

PDF, 458 KB

english, 2017

115

Single Nucleotide Polymorphisms Volume 212 || Detection of Mutations in DNA by Solid-Phase Chemical Cleavage Method: A Simplified Assay

Year:

2002

Language:

english

File:

PDF, 247 KB

english, 2002

116

Single Nucleotide Polymorphisms Volume 212 || SNPs: Why Do We Care?

Year:

2002

Language:

english

File:

PDF, 125 KB

english, 2002

117

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification

Bassaganyas, Laia, Freedman, George, Vaka, Dedeepya, Wan, Eunice, Lao, Richard, Chen, Flavia, Kvale, Mark, Currier, Robert J., Puck, Jennifer M., Kwok, Pui-Yan

Journal:

Year:

2017

Language:

english

File:

PDF, 606 KB

english, 2017

118

Comparative genome analysis of programmed DNA elimination in nematodes

Wang, Jianbin, Gao, Shenghan, Mostovoy, Yulia, Kang, Yuanyuan, Zagoskin, Maxim, Sun, Yongqiao, Zhang, Bing, White, Laura K., Easton, Alice, Nutman, Thomas B., Kwok, Pui-Yan, Hu, Songnian, Nielsen, Mar

Journal:

Genome Research

Year:

2017

Language:

english

File:

PDF, 9.59 MB

english, 2017

119

A large electronic-health-record-based genome-wide study of serum lipids

Hoffmann, Thomas J., Theusch, Elizabeth, Haldar, Tanushree, Ranatunga, Dilrini K., Jorgenson, Eric, Medina, Marisa W., Kvale, Mark N., Kwok, Pui-Yan, Schaefer, Catherine, Krauss, Ronald M., Iribarren,

Journal:

Nature Genetics

Year:

2018

Language:

english

File:

PDF, 2.89 MB

english, 2018

120

A Common Variant in the Telomerase RNA Component Is Associated with Short Telomere Length

Njajou, Omer T., Blackburn, Elizabeth H., Pawlikowska, Ludmila, Mangino, Massimo, Damcott, Coleen M., Kwok, Pui-Yan, Spector, Timothy D., Newman, Anne B., Harris, Tamara B., Cummings, Steven R., Cawth

Journal:

Year:

2010

Language:

english

File:

PDF, 98 KB

english, 2010

121

A Genetic Risk Score Combining Ten Psoriasis Risk Loci Improves Disease Prediction

Chen, Haoyan, Poon, Annie, Yeung, Celestine, Helms, Cynthia, Pons, Jennifer, Bowcock, Anne M., Kwok, Pui-Yan, Liao, Wilson, Mailund, Thomas

Journal:

Year:

2011

Language:

english

File:

PDF, 257 KB

english, 2011

122

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

Bendjilali, Nasrine, Kim, Helen, Weinsheimer, Shantel, Guo, Diana E., Kwok, Pui-Yan, Zaroff, Jonathan G., Sidney, Stephen, Lawton, Michael T., McCulloch, Charles E., Koeleman, Bobby P. C., Klijn, Cath

Journal:

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

123

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

Wong, Karen H. Y., Levy-Sakin, Michal, Kwok, Pui-Yan

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 819 KB

english, 2018

124

Single Nucleotide Polymorphisms Volume 212 || Conformation-Sensitive Gel Electrophoresis

Year:

2002

Language:

english

File:

PDF, 101 KB

english, 2002

125

Primer Design for PCR and Sequencing in High-Throughput Analysis of SNPs

Vieux, Ellen F., Kwok, Pui-Yan, Miller, Raymond D.

Journal:

Year:

2002

Language:

english

File:

PDF, 555 KB

english, 2002

126

Kinetic FP-TDI Assay for SNP Allele Frequency Determination

Xiao, Ming, Latif, Sherif Medhat, Kwok, Pui-Yan

Journal:

Year:

2003

Language:

english

File:

PDF, 890 KB

english, 2003

127

Targeted genomic profiling of acral melanoma

Yeh, Iwei, Jorgenson, Eric, Shen, Ling, Xu, Mengshu, North, Jeffrey P, Shain, A Hunter, Reuss, David, Wu, Hong, Robinson, William A, Olshen, Adam, von Deimling, Andreas, Kwok, Pui-Yan, Bastian, Boris

Journal:

JNCI Journal of the National Cancer Institute

Year:

2019

Language:

english

File:

PDF, 2.17 MB

english, 2019

128

OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps

Leung, Alden King-Yung, Liu, Melissa Chun-Jiao, Li, Le, Lai, Yvonne Yuk-Yin, Chu, Catherine, Kwok, Pui-Yan, Ho, Pak-Leung, Yip, Kevin Y, Chan, Ting-Fung

Journal:

Year:

2019

Language:

english

File:

PDF, 2.13 MB

english, 2019

129

OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps

Leung, Alden King-Yung, Liu, Melissa Chun-Jiao, Li, Le, Lai, Yvonne Yuk-Yin, Chu, Catherine, Kwok, Pui-Yan, Ho, Pak-Leung, Yip, Kevin Y, Chan, Ting-Fung

Journal:

Year:

2019

File:

PDF, 2.13 MB

2019

130

Evaluating the quality of the 1000 genomes project data

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

Journal:

Year:

2019

Language:

english

File:

PDF, 1.70 MB

english, 2019

131

Arteriovenous Malformation

Young, William L., Kwok, Pui-Yan, Pawlikowska, Ludmila, Lawton, Michael T., Kim, Helen, Hysi, Pirro G., Marchuk, Douglas A.

Journal:

Journal of Neurosurgery

Year:

2007

File:

PDF, 22.46 MB

2007

132

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

Young, Eleanor, Abid, Heba Z., Kwok, Pui-Yan, Riethman, Harold, Xiao, Ming, Maizels, Nancy

Journal:

Year:

2020

File:

PDF, 2.56 MB

2020

133

Cost-Effective Staining of DNA with SYBRÂ® Green in Preparative Agarose Gel Electrophoresis

E. Miller, Sara, Taillon-Miller, Patricia, Kwok, Pui-Yan

Journal:

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

134

Analysis of putative cis-regulatory elements regulating blood pressure variation

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, Carlo

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 485 KB

2020

135

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

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

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 220 KB

2020

136

Glucocorticoid Receptor Gene, Low-Grade Inflammation, and Heart Failure: The Heart and Soul Study

Otte, Christian, WuÌst, Stefan, Zhao, Shoujun, Pawlikowska, Ludmila, Kwok, Pui-Yan, Whooley, Mary A.

Journal:

Year:

2010

File:

PDF, 69 KB

2010

137

Finding a Needle in a Haystack: Detection and Quantification of Rare Mutant Alleles Are Coming of Age

Journal:

Clinical Chemistry

Year:

2000

File:

PDF, 136 KB

2000

138

Genotyping Single-Nucleotide Polymorphisms by the Invader Assay with Dual-Color Fluorescence Polarization Detection

Hsu, Tony M, Law, Scott M, Duan, Shenghui, Neri, Bruce P, Kwok, Pui-Yan

Journal:

Clinical Chemistry

Year:

2001

File:

PDF, 191 KB

2001

139

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait

Shi, Guangsen, Yin, Chen, Fan, Zenghua, Xing, Lijuan, Mostovoy, Yulia, Kwok, Pui-Yan, Ashbrook, Liza H., Krystal, Andrew D., PtÃ¡Äek, Louis J., Fu, Ying-Hui

Journal:

Current Biology

Year:

2020

File:

PDF, 3.39 MB

2020

140

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 â¢ New Orleans - ()] A32. ASTHMA GENETICS AND GENOMICS - Loss-of-function Tryptase Variants Are Common In African-American Asthmatic And Non-asthmatic Populations

Trivedi, Neil, Tamraz, Bani, Burchard, Esteban, Kwok, Pui-Yan, Caughey, George H.

Year:

2010

File:

PDF, 17 KB

2010

141

[American Thoracic Society American Thoracic Society 2010 International Conference, May 14-19, 2010 â¢ New Orleans - ()] B93. GENOME-WIDE APPROACHES FOR THE IDENTIFICATION OF ASTHMA GENES: NEW METHODS, NEW PHENOTYPES, NEW GENES - Integrating Admixture Mapping And SNP Analysis From The Largest Genome-Wide Association Study In U.S. Hispanics: Insights From The GALA Study

Gignoux, Christopher, Hu, Donglei, Eng, Celeste, Via, Marc, Huntsman, Scott, Rodriguez-Santana, Jose, RodrÃguez-CintrÃ³n, William, Chapela, Rocio, Avila, Pedro, Choudhry, Shweta, Kwok, Pui-Yan, Sen,

Year:

2010

File:

PDF, 19 KB

2010

142

Accurate assembly of the olive baboon ( Papio anubis ) genome using long-read and Hi-C data

Batra, 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

Journal:

Year:

2020

File:

PDF, 3.35 MB

2020