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51

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

52

Physical Calibration of Yeast Artificial Chromosome Contig Maps by RecA-Assisted Restriction Endonuclease (RARE) Cleavage

Andreas Gnirke, Shawn P. Iadonato, Pui-Yan Kwok, Maynard V. Olson

Journal:

Year:

1994

File:

PDF, 873 KB

1994

53

Genetic Determinants of Cardiac Contractile Function in Caucasians

Sanjiv J. Shah, Whittemore G. Tingley, Jonathan G. Zaroff, Ludmila Pawlikowska, Pui-Yan Kwok, Mary A. Whooley

Journal:

Journal of Cardiac Failure

Year:

2007

Language:

english

File:

PDF, 150 KB

english, 2007

54

Reduced Expression of Integrin αvβ8 Is Associated with Brain Arteriovenous Malformation Pathogenesis

Hua Su, Helen Kim, Ludmila Pawlikowska, Hideya Kitamura, Fanxia Shen, Stephanie Cambier, Jennifer Markovics, Michael T. Lawton, Stephen Sidney, Andrew W. Bollen, Pui-Yan Kwok, Louis Reichardt, William

Journal:

The American Journal of Pathology

Year:

2010

Language:

english

File:

PDF, 820 KB

english, 2010

55

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation

Pulai, Judit I., Zakeri, Hamideh, Kwok, Pui-Yan, Kim, Jeong Ho, Wu, Jingshi, Schonfeld, Gustav

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

56

Single nucleotide polymorphism hunting in cyberspace

Zhijie Gu, LaDeana Hillier, Pui-Yan Kwok

Journal:

Year:

1998

Language:

english

File:

PDF, 194 KB

english, 1998

57

Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding

Ming Xiao, Matthew P. Gordon, Angie Phong, Connie Ha, Ting-Fung Chan, Dongmei Cai, Paul R. Selvin, Pui-Yan Kwok

Journal:

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

58

Association analysis identifiesZNF750regulatory variants in psoriasis

Ramon Y Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T Lam, Pui-Yan Kwok, Ohad S Birk, Wilson Liao

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 271 KB

english, 2011

59

Single Nucleotide Polymorphisms Volume 212 || Invader Assay for SNP Genotyping

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

60

Fluorescence Energy Transfer Detection as a Homogeneous DNA Diagnostic Method

Xiangning Chen, Barbara Zehnbauer, Andreas Gnirke and Pui-Yan Kwok

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 1.60 MB

english, 1997

61

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Choi, Alex, Lao, Richard, Ling-Fung Tang, Paul, Wan, Eunice, Mayer, Wasima, Bardakjian, Tanya, Shaw, Gary M, Kwok, Pui-yan, Schneider, Adele, Slavotinek, Anne

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 637 KB

english, 2015

62

Estimating genotype error rates from high-coverage next-generation sequence data

Wall, Jeffrey D., Tang, Ling Fung, Zerbe, Brandon, Kvale, Mark N., Kwok, Pui-Yan, Schaefer, Catherine, Risch, Neil

Journal:

Genome Research

Year:

2014

Language:

english

File:

PDF, 800 KB

english, 2014

63

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

64

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

65

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

66

Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008

Anthony J. Brookes, Stephen J. Chanock, Thomas J. Hudson, Leena Peltonen, Gonçalo Abecasis, Pui-Yan Kwok, Stephen W. Scherer

Journal:

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

67

Importing Human Pluripotent Stem Cell Lines Derived at Another Institution: Tailoring Review to Ethical Concerns

Bernard Lo, Lindsay Parham, Christopher Broom, Marcelle Cedars, Elena Gates, Linda Giudice, Dina Gould Halme, William Hershon, Arnold Kriegstein, Pui-yan Kwok, Michelle Oberman, Clifford Roberts, Rich

Journal:

Year:

2009

Language:

english

File:

PDF, 613 KB

english, 2009

68

Multicolor Super-Resolution DNA Imaging for Genetic Analysis

Baday, Murat, Cravens, Aaron, Hastie, Alex, Kim, HyeongJun, Kudeki, Deren E., Kwok, Pui-Yan, Xiao, Ming, Selvin, Paul R.

Journal:

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

69

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations

Trivedi, Neil N., Tamraz, Bani, Chu, Catherine, Kwok, Pui-Yan, Caughey, George H.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 1.25 MB

english, 2009

70

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

71

Interleukin-6 involvement in brain arteriovenous malformations

Yongmei Chen, Ludmila Pawlikowska, Jianhua S. Yao, Fanxia Shen, Wenwu Zhai, Achal S. Achrol, Michael T. Lawton, Pui-Yan Kwok, Guo-Yuan Yang, William L. Young

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 665 KB

english, 2006

72

Single Nucleotide Polymorphisms Volume 212 || Homogeneous Allele-Specific PCR in SNP Genotyping

Year:

2002

Language:

english

File:

PDF, 162 KB

english, 2002

73

Single Nucleotide Polymorphisms Volume 212 || MALDI-TOF Mass Spectrometry-Based SNP Genotyping

Year:

2002

Language:

english

File:

PDF, 303 KB

english, 2002

74

Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation

Refaat, Marwan M., Tang, Paul, Harfouch, Nassier, Wojciak, Julianne, Kwok, Pui-Yan, Scheinman, Melvin

Journal:

Cardiac Electrophysiology Clinics

Year:

2016

Language:

english

File:

PDF, 649 KB

english, 2016

75

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

76

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

77

Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors

Christian Zellner, Clive R. Pullinger, Bradley E. Aouizerat, Philip H. Frost, Pui-Yan Kwok, Mary J. Malloy, John P. Kane

Journal:

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

78

10.1038/70570

Marth, Gabor T., Kwok, Pui-Yan, Korf, Ian, Yandell, Mark D., Yeh, Raymond T., Gu, Zhijie, Zakeri, Hamideh, Stitziel, Nathan O., Hillier, LaDeana, Gish, Warren R.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

79

Correction to Multicolor Super-Resolution DNA Imaging for Genetic Analysis

Baday, Murat, Cravens, Aaron, Hastie, Alex, Kim, HyeongJun, Kudeki, Deren E., Kwok, Pui-Yan, Xiao, Ming, Selvin, Paul R.

Journal:

Year:

2013

File:

PDF, 101 KB

2013

80

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

81

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

Year:

2002

Language:

english

File:

PDF, 125 KB

english, 2002

82

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

83

Paternal Origins of Complete Hydatidiform Moles Proven by Whole Genome Single-Nucleotide Polymorphism Haplotyping

Jian-Bing Fan, Urvashi Surti, Patricia Taillon-Miller, Linda Hsie, Giulia C. Kennedy, Lori Hoffner, Thomas Ryder, David G. Mutch, Pui-Yan Kwok

Journal:

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

84

Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI

Lawrence, Gabriella M., Shulman, Shani, Friedlander, Yechiel, Sitlani, Colleen M., Burger, Ayala, Savitsky, Bella, Granot-Hershkovitz, Einat, Lumley, Thomas, Kwok, Pui-Yan, Hesselson, Stephanie, Enquo

Journal:

Year:

2014

Language:

english

File:

PDF, 223 KB

english, 2014

85

HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research

Gonzaludo, Nina, Zheng, Hong-Xiang, Wang, Jiucun, Chanock, Stephen J., Jin, Li, Scherer, Stephen, Wijmenga, Cisca, Kwok, Pui-Yan, Brookes, Anthony J.

Journal:

Year:

2013

Language:

english

File:

PDF, 133 KB

english, 2013

86

Single Nucleotide Polymorphisms Volume 212 || Computational SNP Discovery in DNA Sequence Data

Year:

2002

Language:

english

File:

PDF, 686 KB

english, 2002

87

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

Year:

2002

Language:

english

File:

PDF, 155 KB

english, 2002

88

10.1038/77100

Kwok, Pui-Yan, Taillon-Miller, Patricia, Bauer-Sardiña, Irma, Saccone, Nancy L., Putzel, Jenna, Laitinen, Tarja, Cao, Antonio, Kere, Juha, Pilia, Giuseppe, Rice, John P.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 346 KB

english, 2000

89

Advances in molecular medicine

Tony M. Hsu, Pui-Yan Kwok

Journal:

Journal of the American Academy of Dermatology

Year:

2001

Language:

english

File:

PDF, 111 KB

english, 2001

90

Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics

Gunjan D Hariani,Ernest J Lam,Tammy Havener,Pui-Yan Kwok…

Journal:

BMC Research Notes

Year:

2014

Language:

english

File:

PDF, 445 KB

english, 2014

91

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

Journal:

Year:

2006

Language:

english

File:

PDF, 120 KB

english, 2006

92

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

93

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

94

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

95

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

96

Single nucleotide polymorphism libraries: why and how are we building them?

Pui-Yan Kwok, Zhijie Gu

Journal:

Molecular Medicine Today

Year:

1999

Language:

english

File:

PDF, 85 KB

english, 1999

97

Regions of Low Single-Nucleotide Polymorphism Incidence in Human and Orangutan Xq: Deserts and Recent Coalescences

Raymond D. Miller, Patricia Taillon-Miller, Pui-Yan Kwok

Journal:

Year:

2001

Language:

english

File:

PDF, 121 KB

english, 2001

98

Population Structure, Admixture, and Aging-Related Phenotypes in African American Adults: The Cardiovascular Health Study

Alexander P. Reiner, Elad Ziv, Denise L. Lind, Caroline M. Nievergelt, Nicholas J. Schork, Steven R. Cummings, Angie Phong, Esteban González Burchard, Tamara B. Harris, Bruce M. Psaty, Pui-Yan Kwok

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 477 KB

english, 2005

99

Approaches to allele frequency determination

Journal:

Pharmacogenomics

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

100

Single Nucleotide Polymorphisms Volume 212 || SNP Genotyping by the 5'-Nuclease Reaction

Year:

2002

Language:

english

File:

PDF, 285 KB

english, 2002

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