Pui-Yan Kwok, MD, PhD

Title(s)Professor Emeritus, Cardiovascular Research Inst
SchoolSchool of Medicine
Address555 Mission Bay Blvd South, #001
San Francisco CA 94158
Phone415-271-7832
ORCID ORCID Icon0000-0002-5087-3059 Additional info
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    Collapse Biography 
    Collapse Education and Training
    University of ChicagoM.D.1987Pritzker School of Medicine
    University of ChicagoPh.D.1985Chemistry
    Washington University School of MedicineResidency1991Dermatology
    University of California, San Francisco, CA2019Diversity, Equity, and Inclusion Champion Training

    Collapse Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population.
    NIH U01HG009599Aug 4, 2017 - May 31, 2022
    Role: Principal Investigator
    Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations
    NIH R01GM120772Sep 22, 2016 - May 31, 2021
    Role: Principal Investigator
    RESOURCE-BASED CENTER FOR THE ADVANCEMENT OF PRECISION MEDICINE IN RHEUMATOLOGY
    NIH P30AR070155Sep 21, 2016 - Aug 31, 2026
    Role: Co-Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH U19HD077627Sep 5, 2013 - Aug 31, 2019
    Role: Co-Principal Investigator
    High throughput single molecule approaches for phased genome sequence assembly
    NIH R01HG005946Sep 27, 2010 - Jun 30, 2022
    Role: Principal Investigator
    High throughput single molecule approaches for phased genome sequence assembly
    NIH R56HG005946Sep 27, 2010 - Aug 23, 2018
    Role: Principal Investigator
    Int'l Meetings on Human Genome Variation & Complex Genome Analysis
    NIH R13HG003953Sep 1, 2005 - Jul 31, 2016
    Role: Principal Investigator
    Genomics for Transplantation: Discovery and Biomarkers
    NIH U19AI063603Sep 1, 2004 - Aug 31, 2016
    Role: Co-Investigator
    6th International Single Nucleotide Polymorphism (SNP)
    NIH R13HG003164Sep 1, 2003 - Aug 31, 2004
    Role: Principal Investigator
    Functional Polymorphism Analysis in Drug Pathways
    NIH U01GM063340Aug 1, 2001 - Jul 31, 2010
    Role: Co-Investigator
    Pharmacogenomics of Membrane Transporters
    NIH U19GM061390Apr 1, 2000 - Jun 30, 2015
    Role: Co-Investigator
    METHOD FOR GLOBAL AND TARGETED DISCOVERY OF SNP MARKERS
    NIH R01AG016869Apr 1, 1999 - Mar 31, 2002
    Role: Principal Investigator
    NEW METHODS FOR HIGH THROUGHPUT GENOME ANALYSIS
    NIH R01EY012557Dec 1, 1998 - Nov 30, 2002
    Role: Principal Investigator
    Molecular Haplotyping By Single Molecule Detection
    NIH R01HG001720Sep 30, 1997 - Feb 28, 2009
    Role: Principal Investigator
    HIGH DENSITY GENETIC MAP OF XQ25-XQ28
    NIH R01HG001439Apr 5, 1996 - Mar 31, 2000
    Role: Principal Investigator
    Dermatology Training Grant
    NIH T32AR007284Jul 1, 1978 - Apr 30, 2010
    Role: Co-Principal Investigator
    UCSF Dermatology Training Grant
    NIH T32AR007175Jul 1, 1976 - Apr 30, 2024
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials
    Collapse Academic Senate

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Highly efficient capture approach for the identification of diverse inherited retinal disorders. NPJ Genom Med. 2024 Jan 09; 9(1):4. Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu CC, Hwang DK, Tsai HY, Peng ML, Lee SH, Chau SF, Chen CY, Cheang WM, Chen SJ, Kwok PY, Chiou SH, Lu MJ, Huang SP. PMID: 38195571; PMCID: PMC10776681.
      View in: PubMed   Mentions:
    2. Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ Genom Med. 2024 Jan 03; 9(1):1. Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. PMID: 38172272; PMCID: PMC10764913.
      View in: PubMed   Mentions:
    3. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37872195; PMCID: PMC10593851.
      View in: PubMed   Mentions:
    4. Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing. Nat Commun. 2023 08 25; 14(1):5183. Tsai HH, Kao HJ, Kuo MW, Lin CH, Chang CM, Chen YY, Chen HH, Kwok PY, Yu AL, Yu J. PMID: 37626063; PMCID: PMC10457329.
      View in: PubMed   Mentions: 2     Fields:    Translation:Cells
    5. Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease. Neurol Genet. 2023 Aug; 9(4):e200078. Hsueh HW, Kao HJ, Chao CC, Hsueh SJ, Huang YN, Lin WJ, Su JP, Shy HT, Yeh TY, Lin CC, Kwok PY, Lee NC, Hsieh ST. PMID: 37346931; PMCID: PMC10281236.
      View in: PubMed   Mentions:
    6. South Asian medical cohorts reveal strong founder effects and high rates of homozygosity. Nat Commun. 2023 06 08; 14(1):3377. Wall JD, Sathirapongsasuti JF, Gupta R, Rasheed A, Venkatesan R, Belsare S, Menon R, Phalke S, Mittal A, Fang J, Tanneeru D, Deshmukh M, Bassi A, Robinson J, Chaudhary R, Murugan S, Ul-Asar Z, Saleem I, Ishtiaq U, Fatima A, Sheikh SS, Hameed S, Ishaq M, Rasheed SZ, Memon FU, Jalal A, Abbas S, Frossard P, Fuchsberger C, Forer L, Schoenherr S, Bei Q, Bhangale T, Tom J, Gadde SGK, B V P, Naik NK, Wang M, Kwok PY, Khera AV, Lakshmi BR, Butterworth AS, Chowdhury R, Danesh J, di Angelantonio E, Naheed A, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Biswas A, Pal PK, Muthane UB, Das SK, Ramprasad VL, Kukkle PL, Seshagiri S, Kathiresan S, Ghosh A, Mohan V, Saleheen D, Stawiski EW, Peterson AS. PMID: 37291107; PMCID: PMC10250394.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    7. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. PMID: 37236975; PMCID: PMC10220040.
      View in: PubMed   Mentions: 6  
    8. Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry. medRxiv. 2023 May 24. Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. PMID: 37293051; PMCID: PMC10246153.
      View in: PubMed   Mentions:
    9. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing. Genome Med. 2023 05 10; 15(1):35. Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG. PMID: 37165454; PMCID: PMC10170684.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    10. Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia. J Lipid Res. 2022 06; 63(6):100209. Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, Pullinger CR. PMID: 35460704; PMCID: PMC9126845.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    11. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Oct 12; 6(1):88. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34642307; PMCID: PMC8511154.
      View in: PubMed   Mentions:
    12. Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity. Blood. 2021 10 07; 138(14):1225-1236. Park J, Daniels J, Wartewig T, Ringbloom KG, Martinez-Escala ME, Choi S, Thomas JJ, Doukas PG, Yang J, Snowden C, Law C, Lee Y, Lee K, Zhang Y, Conran C, Tegtmeyer K, Mo SH, Pease DR, Jothishankar B, Kwok PY, Abdulla FR, Pro B, Louissaint A, Boggon TJ, Sosman J, Guitart J, Rao D, Ruland J, Choi J. PMID: 34115827; PMCID: PMC8499046.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    13. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23; 6(1):77. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34556655; PMCID: PMC8460793.
      View in: PubMed   Mentions: 15  
    14. Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 Sep; 26(9):5251. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. PMID: 33674754; PMCID: PMC9119210.
      View in: PubMed   Mentions:    Fields:    
    15. Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population. Transl Psychiatry. 2021 05 20; 11(1):301. Wu LS, Huang MC, Fann CS, Lane HY, Kuo CJ, Chiu WC, Kwok PY, Cheng AT. PMID: 34016946; PMCID: PMC8137921.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    16. Genomic Variation and Recent Population Histories of Spotted (Strix occidentalis) and Barred (Strix varia) Owls. Genome Biol Evol. 2021 05 07; 13(5). Fujito NT, Hanna ZR, Levy-Sakin M, Bowie RCK, Kwok PY, Dumbacher JP, Wall JD. PMID: 33764456; PMCID: PMC8120011.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    17. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954; PMCID: PMC8631250.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    18. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med. 2021 Feb 11; 6(1):10. Wei CY, Yang JH, Yeh EC, Tsai MF, Kao HJ, Lo CZ, Chang LP, Lin WJ, Hsieh FJ, Belsare S, Bhaskar A, Su MW, Lee TC, Lin YL, Liu FT, Shen CY, Li LH, Chen CH, Wall JD, Wu JY, Kwok PY. PMID: 33574314; PMCID: PMC7878858.
      View in: PubMed   Mentions: 64  
    19. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 02 09; 217(2). Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. PMID: 33724415; PMCID: PMC8045732.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    20. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 09; 26(9):5239-5250. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. PMID: 33483695; PMCID: PMC8295400.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    21. A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility. Cancer Res. 2021 04 01; 81(7):1695-1703. Emami NC, Cavazos TB, Rashkin SR, Cario CL, Graff RE, Tai CG, Mefford JA, Kachuri L, Wan E, Wong S, Aaronson D, Presti J, Habel LA, Shan J, Ranatunga DK, Chao CR, Ghai NR, Jorgenson E, Sakoda LC, Kvale MN, Kwok PY, Schaefer C, Risch N, Hoffmann TJ, Van Den Eeden SK, Witte JS. PMID: 33293427; PMCID: PMC8137514.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    22. Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data. Gigascience. 2020 12 07; 9(12). Batra SS, Levy-Sakin M, Robinson J, Guillory J, Durinck S, Vilgalys TP, Kwok PY, Cox LA, Seshagiri S, Song YS, Wall JD. PMID: 33283855; PMCID: PMC7719865.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    23. Towards a reference genome that captures global genetic diversity. Nat Commun. 2020 10 30; 11(1):5482. Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY. PMID: 33127893; PMCID: PMC7599213.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    24. Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait. Curr Biol. 2021 01 11; 31(1):13-24.e4. Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptácek LJ, Fu YH. PMID: 33065013.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    25. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. PMID: 32778825; PMCID: PMC8800147.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansPHPublic Health
    26. De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. Hum Mutat. 2020 10; 41(10):1775-1782. Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC. PMID: 32652807.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    27. Analysis of putative cis-regulatory elements regulating blood pressure variation. Hum Mol Genet. 2020 07 21; 29(11):1922-1932. Nandakumar P, Lee D, Hoffmann TJ, Ehret GB, Arking D, Ranatunga D, Li M, Grove ML, Boerwinkle E, Schaefer C, Kwok PY, Iribarren C, Risch N, Chakravarti A. PMID: 32436959; PMCID: PMC7372556.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    28. 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. Int J Neonatal Screen. 2020 Jun; 6(2). Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. PMID: 32802992; PMCID: PMC7423011.
      View in: PubMed   Mentions: 7  
    29. Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. PLoS Genet. 2020 01; 16(1):e1008347. Young E, Abid HZ, Kwok PY, Riethman H, Xiao M. PMID: 31986135; PMCID: PMC7004388.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    30. The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome. Genetics. 2020 01; 214(1):179-191. Heft IE, Mostovoy Y, Levy-Sakin M, Ma W, Stevens AJ, Pastor S, McCaffrey J, Boffelli D, Martin DI, Xiao M, Kennedy MA, Kwok PY, Sikela JM. PMID: 31754017; PMCID: PMC6944415.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    31. Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. Mol Genet Genomic Med. 2019 12; 7(12):e1007. Wong KHY, Levy-Sakin M, Ma W, Gonzaludo N, Mak ACY, Vaka D, Poon A, Chu C, Lao R, Balamir M, Grenville Z, Wong N, Kane JP, Kwok PY, Malloy MJ, Pullinger CR. PMID: 31617323; PMCID: PMC6900368.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    32. Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Sci Transl Med. 2019 10 16; 11(514). Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH. PMID: 31619542; PMCID: PMC7587149.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimals
    33. Targeted Genomic Profiling of Acral Melanoma. J Natl Cancer Inst. 2019 10 01; 111(10):1068-1077. Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM. PMID: 30657954; PMCID: PMC6792090.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    34. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Res. 2019 09; 29(9):1389-1401. Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. PMID: 31481461; PMCID: PMC6724673.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    35. Evaluating the quality of the 1000 genomes project data. BMC Genomics. 2019 Aug 16; 20(1):620. Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, Peterson AS, Kwok PY, Seshagiri S, Wall JD. PMID: 31416423; PMCID: PMC6696682.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    36. Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards. Nat Ecol Evol. 2019 08; 3(8):1241-1252. Lind AL, Lai YYY, Mostovoy Y, Holloway AK, Iannucci A, Mak ACY, Fondi M, Orlandini V, Eckalbar WL, Milan M, Rovatsos M, Kichigin IG, Makunin AI, Johnson Pokorná M, Altmanová M, Trifonov VA, Schijlen E, Kratochvíl L, Fani R, Velenský P, Rehák I, Patarnello T, Jessop TS, Hicks JW, Ryder OA, Mendelson JR, Ciofi C, Kwok PY, Pollard KS, Bruneau BG. PMID: 31358948; PMCID: PMC6668926.
      View in: PubMed   Mentions: 34     Fields:    Translation:AnimalsCells
    37. OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps. Gigascience. 2019 07 01; 8(7). Leung AK, Liu MC, Li L, Lai YY, Chu C, Kwok PY, Ho PL, Yip KY, Chan TF. PMID: 31289833; PMCID: PMC6615982.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
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    41. Integrative approach identifies corticosteroid response variant in diverse populations with asthma. J Allergy Clin Immunol. 2019 05; 143(5):1791-1802. Levin AM, Gui H, Hernandez-Pacheco N, Yang M, Xiao S, Yang JJ, Hochstadt S, Barczak AJ, Eckalbar WL, Rynkowski D, Samedy LA, Kwok PY, Pino-Yanes M, Erle DJ, Lanfear DE, Burchard EG, Williams LK. PMID: 30367910; PMCID: PMC6482107.
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    44. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 06 15; 197(12):1552-1564. Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. PMID: 29509491; PMCID: PMC6006403.
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    45. A large electronic-health-record-based genome-wide study of serum lipids. Nat Genet. 2018 03; 50(3):401-413. Hoffmann TJ, Theusch E, Haldar T, Ranatunga DK, Jorgenson E, Medina MW, Kvale MN, Kwok PY, Schaefer C, Krauss RM, Iribarren C, Risch N. PMID: 29507422; PMCID: PMC5942247.
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    46. Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 01 25; 3(2). Yu Z, Tang PL, Wang J, Bao S, Shieh JT, Leung AW, Zhang Z, Gao F, Wong SY, Hui AL, Gao Y, Dung N, Zhang ZG, Fan Y, Zhou X, Zhang Y, Wong DS, Sham PC, Azhar A, Kwok PY, Tam PP, Lian Q, Cheah KS, Wang B, Song YQ. PMID: 29367466; PMCID: PMC5821217.
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    47. OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps. Genome Biol. 2017 Dec 01; 18(1):230. Li L, Leung AK, Kwok TP, Lai YYY, Pang IK, Chung GT, Mak ACY, Poon A, Chu C, Li M, Wu JJK, Lam ET, Cao H, Lin C, Sibert J, Yiu SM, Xiao M, Lo KW, Kwok PY, Chan TF, Yip KY. PMID: 29195502; PMCID: PMC5709945.
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    48. Comparative genome analysis of programmed DNA elimination in nematodes. Genome Res. 2017 12; 27(12):2001-2014. Wang J, Gao S, Mostovoy Y, Kang Y, Zagoskin M, Sun Y, Zhang B, White LK, Easton A, Nutman TB, Kwok PY, Hu S, Nielsen MK, Davis RE. PMID: 29118011; PMCID: PMC5741062.
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    49. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Hum Mutat. 2018 01; 39(1):167-171. Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY. PMID: 29067733; PMCID: PMC5738671.
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    50. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. PMID: 28687524.
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    51. A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. Am J Ophthalmol Case Rep. 2017 Sep; 7:102-106. Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. PMID: 29260090; PMCID: PMC5722175.
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    53. OMBlast: alignment tool for optical mapping using a seed-and-extend approach. Bioinformatics. 2017 02 01; 33(3):311-319. Leung AK, Kwok TP, Wan R, Xiao M, Kwok PY, Yip KY, Chan TF. PMID: 28172448; PMCID: PMC5409310.
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    54. Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. Nat Commun. 2017 01 31; 8:14248. Hoffmann TJ, Passarelli MN, Graff RE, Emami NC, Sakoda LC, Jorgenson E, Habel LA, Shan J, Ranatunga DK, Quesenberry CP, Chao CR, Ghai NR, Aaronson D, Presti J, Nordström T, Wang Z, Berndt SI, Chanock SJ, Mosley JD, Klein RJ, Middha M, Lilja H, Melander O, Kvale MN, Kwok PY, Schaefer C, Risch N, Van Den Eeden SK, Witte JS. PMID: 28139693; PMCID: PMC5290311.
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    57. Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Nat Genet. 2017 01; 49(1):54-64. Hoffmann TJ, Ehret GB, Nandakumar P, Ranatunga D, Schaefer C, Kwok PY, Iribarren C, Chakravarti A, Risch N. PMID: 27841878; PMCID: PMC5370207.
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    58. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016; 1. Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. PMID: 28868155; PMCID: PMC5576364.
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    60. Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes. J Cardiovasc Electrophysiol. 2016 Nov; 27(11):1264-1270. Roberts JD, Yang J, Gladstone RA, Longoria J, Whitman IR, Dewland TA, Miller C, Robles A, Poon A, Seiler B, Laframboise WA, Olgin JE, Kwok PY, Marcus GM. PMID: 27574037.
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    62. In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants. Epidemiology. 2016 09; 27(5):656-62. Mooney SJ, Grady ST, Sotoodehnia N, Lemaitre RN, Wallace ER, Mohanty AF, Yee J, Siscovick DS, Rea TD, McKnight B, Kwok PY, Mak AC, Hesselson S, Lovasi GS. PMID: 27153462; PMCID: PMC5505271.
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    64. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 05; 146:163-171. Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A. PMID: 26995144.
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    65. Circulating n-3 fatty acids and trans-fatty acids, PLA2G2A gene variation and sudden cardiac arrest. J Nutr Sci. 2016; 5:e12. Lemaitre RN, Bartz TM, King IB, Brody JA, McKnight B, Sotoodehnia N, Rea TD, Johnson CO, Mozaffarian D, Hesselson S, Kwok PY, Siscovick DS. PMID: 27313848; PMCID: PMC4791519.
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    66. Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. Card Electrophysiol Clin. 2016 Mar; 8(1):217-21. Refaat MM, Tang P, Harfouch N, Wojciak J, Kwok PY, Scheinman M. PMID: 26920198.
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    72. Cohort Profile: The Jerusalem Perinatal Family Follow-Up Study. Int J Epidemiol. 2016 04; 45(2):343-52. Lawrence GM, Siscovick DS, Calderon-Margalit R, Enquobahrie DA, Granot-Hershkovitz E, Harlap S, Manor O, Meiner V, Paltiel O, Kwok PY, Friedlander Y, Hochner H. PMID: 26163255; PMCID: PMC5841635.
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    76. Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1061-72. Lapham K, Kvale MN, Lin J, Connell S, Croen LA, Dispensa BP, Fang L, Hesselson S, Hoffmann TJ, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Matsuguchi T, McGuire WB, Miles S, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Whitmer RA, Kwok PY, Risch N, Schaefer C, Blackburn EH. PMID: 26092717; PMCID: PMC4574243.
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    81. The genetics of splicing in neuroblastoma. Cancer Discov. 2015 Apr; 5(4):380-95. Chen J, Hackett CS, Zhang S, Song YK, Bell RJ, Molinaro AM, Quigley DA, Balmain A, Song JS, Costello JF, Gustafson WC, Van Dyke T, Kwok PY, Khan J, Weiss WA. PMID: 25637275; PMCID: PMC4390477.
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    82. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clin Genet. 2015 Nov; 88(5):468-73. Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. PMID: 25457163; PMCID: PMC4452457.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    83. Prioritizing causal disease genes using unbiased genomic features. Genome Biol. 2014 Dec 03; 15(12):534. Deo RC, Musso G, Tasan M, Tang P, Poon A, Yuan C, Felix JF, Vasan RS, Beroukhim R, De Marco T, Kwok PY, MacRae CA, Roth FP. PMID: 25633252; PMCID: PMC4279789.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    84. Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation. Circ Cardiovasc Genet. 2015 Feb; 8(1):50-7. Roberts JD, Longoria J, Poon A, Gollob MH, Dewland TA, Kwok PY, Olgin JE, Deo RC, Marcus GM. PMID: 25406240; PMCID: PMC4334693.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCellsCTClinical Trials
    85. Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma. Cell Rep. 2014 Nov 06; 9(3):1034-46. Hackett CS, Quigley DA, Wong RA, Chen J, Cheng C, Song YK, Wei JS, Pawlikowska L, Bao Y, Goldenberg DD, Nguyen K, Gustafson WC, Rallapalli SK, Cho YJ, Cook JM, Kozlov S, Mao JH, Van Dyke T, Kwok PY, Khan J, Balmain A, Fan Q, Weiss WA. PMID: 25437558; PMCID: PMC4251494.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    86. Estimating genotype error rates from high-coverage next-generation sequence data. Genome Res. 2014 Nov; 24(11):1734-9. Wall JD, Tang LF, Zerbe B, Kvale MN, Kwok PY, Schaefer C, Risch N. PMID: 25304867; PMCID: PMC4216915.
      View in: PubMed   Mentions: 66     Fields:    Translation:Humans
    87. Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function. JAMA Neurol. 2014 Oct; 71(10):1228-36. Mak AC, Pullinger CR, Tang LF, Wong JS, Deo RC, Schwarz JM, Gugliucci A, Movsesyan I, Ishida BY, Chu C, Poon A, Kim P, Stock EO, Schaefer EJ, Asztalos BF, Castellano JM, Wyss-Coray T, Duncan JL, Miller BL, Kane JP, Kwok PY, Malloy MJ. PMID: 25111166; PMCID: PMC4714860.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    88. Prioritizing genes for X-linked diseases using population exome data. Hum Mol Genet. 2015 Feb 01; 24(3):599-608. Ge X, Kwok PY, Shieh JT. PMID: 25217573; PMCID: PMC4291241.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    89. Organic cation transporter variation and response to smoking cessation therapies. Nicotine Tob Res. 2014 Dec; 16(12):1638-46. Bergen AW, Javitz HS, Krasnow R, Michel M, Nishita D, Conti DV, Edlund CK, Kwok PY, McClure JB, Kim RB, Hall SM, Tyndale RF, Baker TB, Benowitz NL, Swan GE. PMID: 25143296; PMCID: PMC4296186.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    90. A polymorphism in TLR2 is associated with arterial thrombosis in a multiethnic population of patients with systemic lupus erythematosus. Arthritis Rheumatol. 2014 Jul; 66(7):1882-7. Kaiser R, Tang LF, Taylor KE, Sterba K, Nititham J, Brown EE, Edberg JC, McGwin G, Alarcón GS, Ramsey-Goldman R, Reveille JD, Vilá LM, Petri M, Rauch J, Miller E, Mesznik K, Kwok PY, Kimberly RP, Salmon JE, Criswell LA. PMID: 24578102; PMCID: PMC4269184.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    91. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet. 2015 Mar; 23(3):337-41. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. PMID: 24939590; PMCID: PMC4326713.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    92. Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics. BMC Res Notes. 2014 Jun 12; 7:360. Hariani GD, Lam ET, Lam EJ, Havener T, Kwok PY, McLeod HL, Wagner MJ, Motsinger-Reif AA. PMID: 24924344; PMCID: PMC4068968.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    93. Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. BMC Genomics. 2014 May 20; 15:387. O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM. PMID: 24885025; PMCID: PMC4053653.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    94. Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. PLoS One. 2014; 9(5):e96805. Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. PMID: 24820477; PMCID: PMC4018404.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    95. Maternal genetic variation accounts in part for the associations of maternal size during pregnancy with offspring cardiometabolic risk in adulthood. PLoS One. 2014; 9(3):e91835. Wander PL, Hochner H, Sitlani CM, Enquobahrie DA, Lumley T, Lawrence GM, Burger A, Savitsky B, Manor O, Meiner V, Hesselson S, Kwok PY, Siscovick DS, Friedlander Y. PMID: 24670385; PMCID: PMC3966761.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    96. Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population. J Gerontol A Biol Sci Med Sci. 2014 Dec; 69(12):1474-84. Bendjilali N, Hsueh WC, He Q, Willcox DC, Nievergelt CM, Donlon TA, Kwok PY, Suzuki M, Willcox BJ. PMID: 24444611; PMCID: PMC4271021.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    97. Gene-based association identifies SPATA13-AS1 as a pharmacogenomic predictor of inhaled short-acting beta-agonist response in multiple population groups. Pharmacogenomics J. 2014 Aug; 14(4):365-71. Padhukasahasram B, Yang JJ, Levin AM, Yang M, Burchard EG, Kumar R, Kwok PY, Seibold MA, Lanfear DE, Williams LK. PMID: 24418963; PMCID: PMC4098013.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    98. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014 Mar; 11(3):471-7. Lemaitre RN, Johnson CO, Hesselson S, Sotoodehnia N, Sotoodhenia N, McKnight B, Sitlani CM, Rea TD, King IB, Kwok PY, Mak A, Li G, Brody J, Larson E, Mozaffarian D, Psaty BM, Huertas-Vazquez A, Tardif JC, Albert CM, Lyytikäinen LP, Arking DE, Kääb S, Huikuri HV, Krijthe BP, Eijgelsheim M, Wang YA, Reinier K, Lehtimäki T, Pulit SL, Brugada R, Müller-Nurasyid M, Newton-Cheh CH, Karhunen PJ, Stricker BH, Goyette P, Rotter JI, Chugh SS, Chakravarti A, Jouven X, Siscovick DS. PMID: 24418166; PMCID: PMC3966996.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    99. Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI. Obesity (Silver Spring). 2014 Apr; 22(4):1165-71. Lawrence GM, Shulman S, Friedlander Y, Sitlani CM, Burger A, Savitsky B, Granot-Hershkovitz E, Lumley T, Kwok PY, Hesselson S, Enquobahrie D, Wander PL, Manor O, Siscovick DS, Hochner H. PMID: 24124160; PMCID: PMC3968220.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    100. [NiTiBOND an optimized self-crimping stapes prosthesis for treatment of otosclerosis]. Laryngorhinootologie. 2014 Mar; 93(3):178-85. Huber AM, Hornung J, Plontke S, Röösli C, Iro H, Strutz J, Rahne T, Pezier TF, Kwok P. PMID: 24135825.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    101. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. PLoS One. 2013; 8(10):e71434. Bendjilali N, Kim H, Weinsheimer S, Guo DE, Kwok PY, Zaroff JG, Sidney S, Lawton MT, McCulloch CE, Koeleman BP, Klijn CJ, Young WL, Pawlikowska L. PMID: 24098321; PMCID: PMC3789669.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    102. A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation. Transl Psychiatry. 2013 Sep 03; 3:e301. Martin PM, Yang X, Robin N, Lam E, Rabinowitz JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Cheyette BN. PMID: 24002087; PMCID: PMC3784764.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    103. OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis. Pharmacogenet Genomics. 2013 Jul; 23(7):355-64. Tamraz B, Fukushima H, Wolfe AR, Kaspera R, Totah RA, Floyd JS, Ma B, Chu C, Marciante KD, Heckbert SR, Psaty BM, Kroetz DL, Kwok PY. PMID: 23652407; PMCID: PMC3894639.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    104. HGV2012: leveraging next-generation technology and large datasets to advance disease research. Hum Mutat. 2013 Apr; 34(4):657-60. Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ. PMID: 23315969; PMCID: PMC3606662.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    105. Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome. PLoS One. 2013; 8(2):e55864. Hastie AR, Dong L, Smith A, Finklestein J, Lam ET, Huo N, Cao H, Kwok PY, Deal KR, Dvorak J, Luo MC, Gu Y, Xiao M. PMID: 23405223; PMCID: PMC3566107.
      View in: PubMed   Mentions: 77     Fields:    Translation:AnimalsCells
    106. Nicotinic acetylcholine receptor variation and response to smoking cessation therapies. Pharmacogenet Genomics. 2013 Feb; 23(2):94-103. Bergen AW, Javitz HS, Krasnow R, Nishita D, Michel M, Conti DV, Liu J, Lee W, Edlund CK, Hall S, Kwok PY, Benowitz NL, Baker TB, Tyndale RF, Lerman C, Swan GE. PMID: 23249876; PMCID: PMC3563676.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    107. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15; 22(4):696-703. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. PMID: 23161670; PMCID: PMC3554199.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    108. A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations. J Allergy Clin Immunol. 2013 Apr; 131(4):1176-84. Levin AM, Mathias RA, Huang L, Roth LA, Daley D, Myers RA, Himes BE, Romieu I, Yang M, Eng C, Park JE, Zoratti K, Gignoux CR, Torgerson DG, Galanter JM, Huntsman S, Nguyen EA, Becker AB, Chan-Yeung M, Kozyrskyj AL, Kwok PY, Gilliland FD, Gauderman WJ, Bleecker ER, Raby BA, Meyers DA, London SJ, Martinez FD, Weiss ST, Burchard EG, Nicolae DL, Ober C, Barnes KC, Williams LK. PMID: 23146381; PMCID: PMC3596497.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    109. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684. Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. PMID: 23096700; PMCID: PMC3971866.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    110. Beta-adrenergic receptor polymorphisms and cardiac graft function in potential organ donors. Am J Transplant. 2012 Dec; 12(12):3377-86. Khush KK, Pawlikowska L, Menza RL, Goldstein BA, Hayden V, Nguyen J, Kim H, Poon A, Sapru A, Matthay MA, Kwok PY, Young WL, Baxter-Lowe LA, Zaroff JG. PMID: 22994654; PMCID: PMC3513582.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    111. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol. 2012 Aug; 30(8):771-6. Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, Kwok PY. PMID: 22797562; PMCID: PMC3817024.
      View in: PubMed   Mentions: 270     Fields:    Translation:HumansCells
    112. Multicolor super-resolution DNA imaging for genetic analysis. Nano Lett. 2012 Jul 11; 12(7):3861-6. Baday M, Cravens A, Hastie A, Kim H, Kudeki DE, Kwok PY, Xiao M, Selvin PR. PMID: 22698062; PMCID: PMC3880789.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    113. Common variation in fatty acid genes and resuscitation from sudden cardiac arrest. Circ Cardiovasc Genet. 2012 Aug 01; 5(4):422-9. Johnson CO, Lemaitre RN, Fahrenbruch CE, Hesselson S, Sotoodehnia N, McKnight B, Rice KM, Kwok PY, Siscovick DS, Rea TD. PMID: 22661490; PMCID: PMC3422654.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    114. Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly. Biochim Biophys Acta. 2012 Sep; 1817(9):1691-700. Tranah GJ, Lam ET, Katzman SM, Nalls MA, Zhao Y, Evans DS, Yokoyama JS, Pawlikowska L, Kwok PY, Mooney S, Kritchevsky S, Goodpaster BH, Newman AB, Harris TB, Manini TM, Cummings SR, Health, Aging and Body Composition Study. PMID: 22659402; PMCID: PMC3389152.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    115. A screening study of drug-drug interactions in cerivastatin users: an adverse effect of clopidogrel. Clin Pharmacol Ther. 2012 May; 91(5):896-904. Floyd JS, Kaspera R, Marciante KD, Weiss NS, Heckbert SR, Lumley T, Wiggins KL, Tamraz B, Kwok PY, Totah RA, Psaty BM. PMID: 22419147; PMCID: PMC3830936.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    116. HGV2011: personalized genomic medicine meets the incidentalome. Hum Mutat. 2012 Mar; 33(3):582-5. Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY. PMID: 22170622; PMCID: PMC3867005.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    117. Association analysis identifies ZNF750 regulatory variants in psoriasis. BMC Med Genet. 2011 Dec 20; 12:167. Birnbaum RY, Hayashi G, Cohen I, Poon A, Chen H, Lam ET, Kwok PY, Birk OS, Liao W. PMID: 22185198; PMCID: PMC3274454.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    118. Mitochondrial DNA sequence variation and risk of pancreatic cancer. Cancer Res. 2012 Feb 01; 72(3):686-95. Lam ET, Bracci PM, Holly EA, Chu C, Poon A, Wan E, White K, Kwok PY, Pawlikowska L, Tranah GJ. PMID: 22174369; PMCID: PMC3271167.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    119. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A. 2011 Oct 25; 108(43):17761-6. Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, Leboit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. PMID: 22006338; PMCID: PMC3203814.
      View in: PubMed   Mentions: 223     Fields:    Translation:HumansCells
    120. A common 5'-UTR variant in MATE2-K is associated with poor response to metformin. Clin Pharmacol Ther. 2011 Nov; 90(5):674-84. Choi JH, Yee SW, Ramirez AH, Morrissey KM, Jang GH, Joski PJ, Mefford JA, Hesselson SE, Schlessinger A, Jenkins G, Castro RA, Johns SJ, Stryke D, Sali A, Ferrin TE, Witte JS, Kwok PY, Roden DM, Wilke RA, McCarty CA, Davis RL, Giacomini KM. PMID: 21956618; PMCID: PMC3329222.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansAnimalsCells
    121. Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm. Genomics. 2011 Dec; 98(6):422-30. Hoffmann TJ, Zhan Y, Kvale MN, Hesselson SE, Gollub J, Iribarren C, Lu Y, Mei G, Purdy MM, Quesenberry C, Rowell S, Shapero MH, Smethurst D, Somkin CP, Van den Eeden SK, Walter L, Webster T, Whitmer RA, Whitmer RA, Finn A, Schaefer C, Kwok PY, Risch N. PMID: 21903159; PMCID: PMC3502750.
      View in: PubMed   Mentions: 103     Fields:    Translation:Humans
    122. Temporal dissection of tumorigenesis in primary cancers. Cancer Discov. 2011 Jul; 1(2):137-43. Durinck S, Ho C, Wang NJ, Liao W, Jakkula LR, Collisson EA, Pons J, Chan SW, Lam ET, Chu C, Park K, Hong SW, Hur JS, Huh N, Neuhaus IM, Yu SS, Grekin RC, Mauro TM, Cleaver JE, Kwok PY, LeBoit PE, Getz G, Cibulskis K, Aster JC, Huang H, Purdom E, Li J, Bolund L, Arron ST, Gray JW, Spellman PT, Cho RJ. PMID: 21984974; PMCID: PMC3187561.
      View in: PubMed   Mentions: 136     Fields:    Translation:Humans
    123. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. BMC Cardiovasc Disord. 2011 Jun 10; 11:29. Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY, Olgin JE, Tseng ZH. PMID: 21658281; PMCID: PMC3141757.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    124. Cerivastatin, genetic variants, and the risk of rhabdomyolysis. Pharmacogenet Genomics. 2011 May; 21(5):280-8. Marciante KD, Durda JP, Heckbert SR, Lumley T, Rice K, McKnight B, Totah RA, Tamraz B, Kroetz DL, Fukushima H, Kaspera R, Bis JC, Glazer NL, Li G, Austin TR, Taylor KD, Rotter JI, Jaquish CE, Kwok PY, Tracy RP, Psaty BM. PMID: 21386754; PMCID: PMC3076530.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    125. Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics. 2011 Aug; 98(2):79-89. Hoffmann TJ, Kvale MN, Hesselson SE, Zhan Y, Aquino C, Cao Y, Cawley S, Chung E, Connell S, Eshragh J, Ewing M, Gollub J, Henderson M, Hubbell E, Iribarren C, Kaufman J, Lao RZ, Lu Y, Ludwig D, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Quesenberry C, Ranatunga D, Rowell S, Sadler M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Van den Eeden SK, Walter L, Wan E, Wearley R, Webster T, Wen CC, Weng L, Whitmer RA, Whitmer RA, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N. PMID: 21565264; PMCID: PMC3146553.
      View in: PubMed   Mentions: 120     Fields:    Translation:Humans
    126. A genetic risk score combining ten psoriasis risk loci improves disease prediction. PLoS One. 2011 Apr 29; 6(4):e19454. Chen H, Poon A, Yeung C, Helms C, Pons J, Bowcock AM, Kwok PY, Liao W. PMID: 21559375; PMCID: PMC3084857.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    127. Replication and extension of association between common genetic variants in SIM1 and human adiposity. Obesity (Silver Spring). 2011 Dec; 19(12):2394-2403. Swarbrick MM, Evans DS, Valle MI, Favre H, Wu SH, Njajou OT, Li R, Zmuda JM, Miljkovic I, Harris TB, Kwok PY, Vaisse C, Hsueh WC. PMID: 21512513; PMCID: PMC4646950.
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    128. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. PMID: 21507892; PMCID: PMC4294942.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    129. Functional characterization of liver enhancers that regulate drug-associated transporters. Clin Pharmacol Ther. 2011 Apr; 89(4):571-8. Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N. PMID: 21368754; PMCID: PMC3227682.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    130. Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun. 2011 Apr; 12(3):176-82. Musone SL, Taylor KE, Nititham J, Chu C, Poon A, Liao W, Lam ET, Ma A, Kwok PY, Criswell LA. PMID: 21326317; PMCID: PMC3152744.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    131. Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations. Cerebrovasc Dis. 2011; 31(4):338-45. Mikhak B, Weinsheimer S, Pawlikowska L, Poon A, Kwok PY, Lawton MT, Chen Y, Zaroff JG, Sidney S, McCulloch CE, Young WL, Kim H. PMID: 21212665; PMCID: PMC3030504.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    132. Common variants in P2RY11 are associated with narcolepsy. Nat Genet. 2011 Jan; 43(1):66-71. Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, Honda Y, Honda M, Högl B, Ton TG, Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL, Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, Jeong JH, Lee SP, Strohl KP, Longstreth WT, Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, Hallmayer J, Mignot E. PMID: 21170044; PMCID: PMC3019286.
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    177. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61. International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. PMID: 17943122; PMCID: PMC2689609.
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    178. The Template-Directed Dye-Incorporation Assay with Fluorescence Polarization Detection (FP-TDI). CSH Protoc. 2007 Oct 01; 2007:pdb.prot4844. Ha C, Kwok PY. PMID: 21356946.
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    179. Association of tumor necrosis factor-alpha-238G>A and apolipoprotein E2 polymorphisms with intracranial hemorrhage after brain arteriovenous malformation treatment. Neurosurgery. 2007 Oct; 61(4):731-9; discussion 740. Achrol AS, Kim H, Pawlikowska L, Trudy Poon KY, McCulloch CE, Ko NU, Johnston SC, McDermott MW, Zaroff JG, Lawton MT, Kwok PY, Young WL. PMID: 17986934; PMCID: PMC4648368.
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    180. Common variants in the CRP gene in relation to longevity and cause-specific mortality in older adults: the Cardiovascular Health Study. Atherosclerosis. 2008 Apr; 197(2):922-30. Hindorff LA, Rice KM, Lange LA, Diehr P, Halder I, Walston J, Kwok P, Ziv E, Nievergelt C, Cummings SR, Newman AB, Tracy RP, Psaty BM, Reiner AP. PMID: 17888441; PMCID: PMC2362133.
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    181. Apolipoprotein E e4 allele increases the risk of early postoperative delirium in older patients undergoing noncardiac surgery. Anesthesiology. 2007 Sep; 107(3):406-11. Leung JM, Sands LP, Wang Y, Poon A, Kwok PY, Kane JP, Pullinger CR. PMID: 17721242.
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    182. Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding. Hum Mutat. 2007 Sep; 28(9):913-21. Xiao M, Gordon MP, Phong A, Ha C, Chan TF, Cai D, Selvin PR, Kwok PY. PMID: 17443670.
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    183. Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. Proc Natl Acad Sci U S A. 2007 May 15; 104(20):8461-6. Tingley WG, Pawlikowska L, Zaroff JG, Kim T, Nguyen T, Young SG, Vranizan K, Kwok PY, Whooley MA, Conklin BR. PMID: 17485678; PMCID: PMC1866184.
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    184. Identification of NR1I2 genetic variation using resequencing. Eur J Clin Pharmacol. 2007 Jun; 63(6):547-54. King CR, Xiao M, Yu J, Minton MR, Addleman NJ, Van Booven DJ, Kwok PY, McLeod HL, Marsh S. PMID: 17404718.
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    185. Arteriovenous malformation. J Neurosurg. 2007 Apr; 106(4):731-2; author reply 732-3. Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA. PMID: 17432733.
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    186. Recommendations of the 2006 Human Variome Project meeting. Nat Genet. 2007 Apr; 39(4):433-6. Cotton RG, 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M. PMID: 17392799.
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    187. Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. Am J Hum Genet. 2007 Apr; 80(4):716-26. Reich D, Patterson N, Ramesh V, De Jager PL, McDonald GJ, Tandon A, Choy E, Hu D, Tamraz B, Pawlikowska L, Wassel-Fyr C, Huntsman S, Waliszewska A, Rossin E, Li R, Garcia M, Reiner A, Ferrell R, Cummings S, Kwok PY, Harris T, Zmuda JM, Ziv E, Health, Aging and Body Composition (Health ABC) Study. PMID: 17357077; PMCID: PMC1852718.
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    188. Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis. Nat Genet. 2007 Feb; 39(2):153-5. Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. PMID: 17262030.
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    189. Rapid DNA mapping by fluorescent single molecule detection. Nucleic Acids Res. 2007; 35(3):e16. Xiao M, Phong A, Ha C, Chan TF, Cai D, Leung L, Wan E, Kistler AL, DeRisi JL, Selvin PR, Kwok PY. PMID: 17175538; PMCID: PMC1807959.
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    190. Heat-inducible translationally controlled tumor protein of Trichinella pseudospiralis: cloning and regulation of gene expression. Parasitol Res. 2007 Apr; 100(5):1105-11. Mak CH, Poon MW, Lun HM, Kwok PY, Ko RC. PMID: 17149606.
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    191. African ancestry, socioeconomic status, and kidney function in elderly African Americans: a genetic admixture analysis. J Am Soc Nephrol. 2006 Dec; 17(12):3491-6. Peralta CA, Ziv E, Katz R, Reiner A, Burchard EG, Fried L, Kwok PY, Psaty B, Shlipak M. PMID: 17082243.
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    192. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics. 2006 Oct; 7(7):969-72. Ring HZ, Kwok PY, Cotton RG. PMID: 17054407.
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    193. A simple DNA stretching method for fluorescence imaging of single DNA molecules. Nucleic Acids Res. 2006; 34(17):e113. Chan TF, Ha C, Phong A, Cai D, Wan E, Leung L, Kwok PY, Xiao M. PMID: 16971459; PMCID: PMC1635263.
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    194. Genome-wide association studies getting more complicated but help is on the way. Hum Genomics. 2006 Jun; 2(6):341-2. Kwok PY. PMID: 16848970; PMCID: PMC3525161.
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    195. Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. Stroke. 2006 Jul; 37(7):1680-5. Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL. PMID: 16728691; PMCID: PMC4654957.
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    196. Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery. 2006 May; 58(5):838-43; discussion 838-43. Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL. PMID: 16639317; PMCID: PMC4648360.
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    197. Distribution of human SNPs and its effect on high-throughput genotyping. Hum Mutat. 2006 Mar; 27(3):249-54. Koboldt DC, Miller RD, Kwok PY. PMID: 16425292; PMCID: PMC1861817.
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    198. Seventh international meeting on single nucleotide polymorphism and complex genome analysis: 'ever bigger scans and an increasingly variable genome'. Hum Genet. 2006 May; 119(4):451-6. Rocha D, Gut I, Jeffreys AJ, Kwok PY, Brookes AJ, Chanock SJ. PMID: 16501918.
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    199. Interleukin-6 involvement in brain arteriovenous malformations. Ann Neurol. 2006 Jan; 59(1):72-80. Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL. PMID: 16278864.
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    200. Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. Stroke. 2006 Jan; 37(1):231-4. Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project. PMID: 16322490.
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    201. Population stratification confounds genetic association studies among Latinos. Hum Genet. 2006 Jan; 118(5):652-64. Choudhry S, Coyle NE, Tang H, Salari K, Lind D, Clark SL, Tsai HJ, Naqvi M, Phong A, Ung N, Matallana H, Avila PC, Casal J, Torres A, Nazario S, Castro R, Battle NC, Perez-Stable EJ, Kwok PY, Sheppard D, Shriver MD, Rodriguez-Cintron W, Risch N, Ziv E, Burchard EG, Genetics of Asthma in Latino Americans GALA Study. PMID: 16283388.
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    202. Polymorphism discovery in 51 chemotherapy pathway genes. Hum Mol Genet. 2005 Dec 01; 14(23):3595-603. Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY. PMID: 16239245.
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    203. Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet. 2005 Dec; 118(3-4):466-76. Helms C, Saccone NL, Cao L, Daw JA, Cao K, Hsu TM, Taillon-Miller P, Duan S, Gordon D, Pierce B, Ott J, Rice J, Fernandez-Vina MA, Kwok PY, Menter A, Bowcock AM. PMID: 16235096.
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    204. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke. 2005 Oct; 36(10):2278-80. Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project. PMID: 16179574.
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    205. Lack of support for the association between GAD2 polymorphisms and severe human obesity. PLoS Biol. 2005 Sep; 3(9):e315. Swarbrick MM, Waldenmaier B, Pennacchio LA, Lind DL, Cavazos MM, Geller F, Merriman R, Ustaszewska A, Malloy M, Scherag A, Hsueh WC, Rief W, Mauvais-Jarvis F, Pullinger CR, Kane JP, Dent R, McPherson R, Kwok PY, Hinney A, Hebebrand J, Vaisse C. PMID: 16122350; PMCID: PMC1193520.
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    206. High-density single-nucleotide polymorphism maps of the human genome. Genomics. 2005 Aug; 86(2):117-26. Miller RD, Phillips MS, Jo I, Donaldson MA, Studebaker JF, Addleman N, Alfisi SV, Ankener WM, Bhatti HA, Callahan CE, Carey BJ, Conley CL, Cyr JM, Derohannessian V, Donaldson RA, Elosua C, Ford SE, Forman AM, Gelfand CA, Grecco NM, Gutendorf SM, Hock CR, Hozza MJ, Hur S, In SM, Jackson DL, Jo SA, Jung SC, Kim S, Kimm K, Kloss EF, Koboldt DC, Kuebler JM, Kuo FS, Lathrop JA, Lee JK, Leis KL, Livingston SA, Lovins EG, Lundy ML, Maggan S, Minton M, Mockler MA, Morris DW, Nachtman EP, Oh B, Park C, Park CW, Pavelka N, Perkins AB, Restine SL, Sachidanandam R, Reinhart AJ, Scott KE, Shah GJ, Tate JM, Varde SA, Walters A, White JR, Yoo YK, Lee JE, Boyce-Jacino MT, Kwok PY, SNP Consortium Allele Frequency Project. PMID: 15961272; PMCID: PMC1885222.
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    207. Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics. Genet Epidemiol. 2005 Jul; 29(1):76-86. Salari K, Choudhry S, Tang H, Naqvi M, Lind D, Avila PC, Coyle NE, Ung N, Nazario S, Casal J, Torres-Palacios A, Clark S, Phong A, Gomez I, Matallana H, Pérez-Stable EJ, Shriver MD, Kwok PY, Sheppard D, Rodriguez-Cintron W, Risch NJ, Burchard EG, Ziv E. PMID: 15918156.
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    208. Extract signal out of noise. Hum Genomics. 2005 Mar; 2(1):2-3. Kwok PY. PMID: 15814063; PMCID: PMC3524790.
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    209. Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. Am J Hum Genet. 2005 Mar; 76(3):463-77. Reiner AP, Ziv E, Lind DL, Nievergelt CM, Schork NJ, Cummings SR, Phong A, Burchard EG, Harris TB, Psaty BM, Kwok PY. PMID: 15660291; PMCID: PMC1196398.
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    210. Kinetic fluorescence-quenching detection assay for allele frequency estimation. Methods Mol Biol. 2005; 311:115-23. Xiao M, Kwok PY. PMID: 16100403.
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    211. Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors. Hum Mutat. 2005 Jan; 25(1):18-21. Zellner C, Pullinger CR, Aouizerat BE, Frost PH, Kwok PY, Malloy MJ, Kane JP. PMID: 15580557.
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    212. Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens. Genomics. 2004 Dec; 84(6):899-912. Taillon-Miller P, Saccone SF, Saccone NL, Duan S, Kloss EF, Lovins EG, Donaldson R, Phong A, Ha C, Flagstad L, Miller S, Drendel A, Lind D, Miller RD, Rice JP, Kwok PY. PMID: 15533707.
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    213. Pharmacogenomic assessment of carboxylesterases 1 and 2. Genomics. 2004 Oct; 84(4):661-8. Marsh S, Xiao M, Yu J, Ahluwalia R, Minton M, Freimuth RR, Kwok PY, McLeod HL. PMID: 15475243.
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    214. Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke. 2004 Oct; 35(10):2294-300. Pawlikowska L, Tran MN, Achrol AS, McCulloch CE, Ha C, Lind DL, Hashimoto T, Zaroff J, Lawton MT, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project. PMID: 15331795.
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    215. Role of excess inorganic pyrophosphate in primer-extension genotyping assays. Genome Res. 2004 Sep; 14(9):1749-55. Xiao M, Phong A, Lum KL, Greene RA, Buzby PR, Kwok PY. PMID: 15310656; PMCID: PMC515321.
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    216. Single-molecule analysis for molecular haplotyping. Hum Mutat. 2004 May; 23(5):442-6. Kwok PY, Xiao M. PMID: 15108275; PMCID: PMC1820841.
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    217. High-throughput genotyping with primer extension fluorescent polarization detection. Curr Protoc Hum Genet. 2004 Feb; Chapter 2:Unit 2.11. Kwok PY. PMID: 18428360.
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    218. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet. 2003 Dec; 35(4):349-56. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM. PMID: 14608357.
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    219. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat. 2003 Nov; 22(5):420-1. Westphal V, Xiao M, Kwok PY, Freeze HH. PMID: 14517965.
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    220. ADAM33 is not associated with asthma in Puerto Rican or Mexican populations. Am J Respir Crit Care Med. 2003 Dec 01; 168(11):1312-6. Lind DL, Choudhry S, Ung N, Ziv E, Avila PC, Salari K, Ha C, Lovins EG, Coyle NE, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, Matallana H, Lilly CM, Salas J, Selman M, Boushey HA, Weiss ST, Chapela R, Ford JG, Rodriguez-Cintron W, Silverman EK, Sheppard D, Kwok PY, González Burchard E. PMID: 12958057.
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    221. DNA analysis by fluorescence quenching detection. Genome Res. 2003 May; 13(5):932-9. Xiao M, Kwok PY. PMID: 12727909; PMCID: PMC430929.
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    222. Detection of single nucleotide polymorphisms. Curr Issues Mol Biol. 2003 Apr; 5(2):43-60. Kwok PY, Chen X. PMID: 12793528.
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    223. Efficient high-throughput resequencing of genomic DNA. Genome Res. 2003 Apr; 13(4):717-20. Miller RD, Duan S, Lovins EG, Kloss EF, Kwok PY. PMID: 12654721; PMCID: PMC430165.
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    224. SNP genotyping and molecular haplotyping of DNA pools. Cold Spring Harb Symp Quant Biol. 2003; 68:65-7. Kwok PY, Xiao M. PMID: 15338604.
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    225. SNP discovery by direct DNA sequencing. Methods Mol Biol. 2003; 212:71-84. Kwok PY, Duan S. PMID: 12491904.
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    226. Homogeneous primer extension assay with fluorescence polarization detection. Methods Mol Biol. 2003; 212:177-87. Hsu TM, Kwok PY. PMID: 12491910.
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    227. Kinetic FP-TDI assay for SNP allele frequency determination. Biotechniques. 2003 Jan; 34(1):190-7. Xiao M, Latif SM, Kwok PY. PMID: 12545559.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    228. Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A. 2003 Jan 07; 100(1):376-81. Marth G, Schuler G, Yeh R, Davenport R, Agarwala R, Church D, Wheelan S, Baker J, Ward M, Kholodov M, Phan L, Czabarka E, Murvai J, Cutler D, Wooding S, Rogers A, Chakravarti A, Harpending HC, Kwok PY, Sherry ST. PMID: 12502794; PMCID: PMC140982.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    229. Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. Hum Genet. 2003 Jan; 112(1):34-41. Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM. PMID: 12483297.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    230. Making 'random amplification' predictable in whole genome analysis. Trends Biotechnol. 2002 Oct; 20(10):411-2. Kwok PY. PMID: 12220898.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    231. Primer design for PCR and sequencing in high-throughput analysis of SNPs. Biotechniques. 2002 Jun; Suppl:28-30, 32. Vieux EF, Kwok PY, Miller RD. PMID: 12083394.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    232. SNP genotyping with fluorescence polarization detection. Hum Mutat. 2002 Apr; 19(4):315-23. Kwok PY. PMID: 11933186.
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    233. Genomics. Genetic association by whole-genome analysis? Science. 2001 Nov 23; 294(5547):1669-70. Kwok PY. PMID: 11721042.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    234. Genotyping single-nucleotide polymorphisms by the invader assay with dual-color fluorescence polarization detection. Clin Chem. 2001 Aug; 47(8):1373-7. Hsu TM, Law SM, Duan S, Neri BP, Kwok PY. PMID: 11468224.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    235. Genotyping by ligation assays. Curr Protoc Hum Genet. 2001 May; Chapter 2:Unit 2.6. Nickerson DA, Ankener W, Delahunty C, Kwok PY. PMID: 18428270.
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    236. Advances in molecular medicine. J Am Acad Dermatol. 2001 May; 44(5):847-55. Hsu TM, Kwok PY. PMID: 11312435.
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    237. The optimal measure of allelic association. Proc Natl Acad Sci U S A. 2001 Apr 24; 98(9):5217-21. Morton NE, Zhang W, Taillon-Miller P, Ennis S, Kwok PY, Collins A. PMID: 11309498; PMCID: PMC33190.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    238. 3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: 'some notable progress'. Eur J Hum Genet. 2001 Apr; 9(4):316-8. White PS, Kwok PY, Oefner P, Brookes AJ. PMID: 11313777.
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    239. Single-nucleotide polymorphisms in the public domain: how useful are they? Nat Genet. 2001 Apr; 27(4):371-2. Marth G, Yeh R, Minton M, Donaldson R, Li Q, Duan S, Davenport R, Miller RD, Kwok PY. PMID: 11279516.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    240. Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. Hum Mutat. 2001 Apr; 17(4):255-62. Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE. PMID: 11295822.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    241. Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay. Genome Res. 2001 Mar; 11(3):436-40. Latif S, Bauer-Sardina I, Ranade K, Livak KJ, Kwok PY. PMID: 11230167; PMCID: PMC311069.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    242. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001 Feb 15; 409(6822):928-33. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D, International SNP Map Working Group. PMID: 11237013.
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    243. Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences. Genomics. 2001 Jan 01; 71(1):78-88. Miller RD, Taillon-Miller P, Kwok PY. PMID: 11161800.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    244. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet. 2001; 2:235-58. Kwok PY. PMID: 11701650.
      View in: PubMed   Mentions: 96     Fields:    Translation:Humans
    245. Reflections on a DNA mutation scanning tool. Nat Biotechnol. 2001 Jan; 19(1):18-9. Kwok PY. PMID: 11135543.
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    246. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet. 2000 Jul; 25(3):324-8. Taillon-Miller P, Bauer-Sardiña I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY. PMID: 10888883.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    247. A high-density single-nucleotide polymorphism map of Xq25-q28. Genomics. 2000 May 01; 65(3):195-202. Taillon-Miller P, Kwok PY. PMID: 10857743.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    248. Approaches to allele frequency determination. Pharmacogenomics. 2000 May; 1(2):231-5. Kwok PY. PMID: 11256594.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    249. Finding a needle in a haystack: detection and quantification of rare mutant alleles are coming of age. Clin Chem. 2000 May; 46(5):593-4. Kwok PY. PMID: 10794738.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    250. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet. 2000 May; 66(5):1699-704. Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, Wu JS, Liu KY, Schonfeld G. PMID: 10762553; PMCID: PMC1378026.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    251. Alternative splicing for the alpha1 subunit of soluble guanylate cyclase. Biochem J. 2000 Mar 15; 346 Pt 3:811-6. Ritter D, Taylor JF, Hoffmann JW, Carnaghi L, Giddings SJ, Zakeri H, Kwok PY. PMID: 10698711; PMCID: PMC1220917.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    252. High-throughput genotyping assay approaches. Pharmacogenomics. 2000 Feb; 1(1):95-100. Kwok PY. PMID: 11258600.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    253. A general approach to single-nucleotide polymorphism discovery. Nat Genet. 1999 Dec; 23(4):452-6. Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR. PMID: 10581034.
      View in: PubMed   Mentions: 154     Fields:    Translation:Humans
    254. Single nucleotide polymorphism libraries: why and how are we building them? Mol Med Today. 1999 Dec; 5(12):538-43. Kwok PY, Gu Z. PMID: 10562720.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    255. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet. 1999 Sep; 8(9):1631-6. Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ. PMID: 10441325.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    256. Cost-effective staining of DNA with SYBR green in preparative agarose gel electrophoresis. Biotechniques. 1999 07; 27(1):34-6. Miller SE, Taillon-Miller P, Kwok PY. PMID: 10407658.
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    257. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999 May; 9(5):492-8. Chen X, Levine L, Kwok PY. PMID: 10330129; PMCID: PMC310763.
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    258. Efficient approach to unique single-nucleotide polymorphism discovery. Genome Res. 1999 May; 9(5):499-505. Taillon-Miller P, Piernot EE, Kwok PY. PMID: 10330130; PMCID: PMC310784.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    259. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia. J Lipid Res. 1999 May; 40(5):955-9. Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G. PMID: 10224165.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    260. Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection. Genet Anal. 1999 Feb; 14(5-6):157-63. Chen X, Kwok PY. PMID: 10084108.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimals
    261. Genotyping by mass spectrometry takes flight. Nat Biotechnol. 1998 Dec; 16(13):1314-5. Kwok PY. PMID: 9853606.
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    262. Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation. Am J Med Genet. 1998 Nov 16; 80(3):218-20. Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G. PMID: 9843041.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    263. Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing. Biotechniques. 1998 Sep; 25(3):406-10, 412-4. Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY. PMID: 9762437.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    264. Reading bits of genetic information: methods for single-nucleotide polymorphism analysis. Genome Res. 1998 Aug; 8(8):769-76. Landegren U, Nilsson M, Kwok PY. PMID: 9724323.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    265. Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. Genome Res. 1998 Jul; 8(7):748-54. Taillon-Miller P, Gu Z, Li Q, Hillier L, Kwok PY. PMID: 9685323; PMCID: PMC310751.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    266. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 1998 May; 8(5):549-56. Chen X, Livak KJ, Kwok PY. PMID: 9582198; PMCID: PMC310725.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    267. Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). Atherosclerosis. 1998 Feb; 136(2):289-95. Pulai JI, Latour MA, Kwok PY, Schonfeld G. PMID: 9543100.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    268. Single nucleotide polymorphism hunting in cyberspace. Hum Mutat. 1998; 12(4):221-5. Gu Z, Hillier L, Kwok PY. PMID: 9744471.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    269. Detection of single nucleotide variations. Genet Eng (N Y). 1998; 20:125-34. Kwok PY, Chen X. PMID: 9666557.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    270. The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics. 1997 Dec 01; 46(2):307-10. Taillon-Miller P, Bauer-Sardiña I, Zakeri H, Hillier L, Mutch DG, Kwok PY. PMID: 9417922.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    271. Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc Natl Acad Sci U S A. 1997 Sep 30; 94(20):10756-61. Chen X, Zehnbauer B, Gnirke A, Kwok PY. PMID: 9380706; PMCID: PMC23476.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    272. Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer. Nucleic Acids Res. 1997 Jan 15; 25(2):347-53. Chen X, Kwok PY. PMID: 9016564; PMCID: PMC146426.
      View in: PubMed   Mentions: 23     Fields:    
    273. AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. Biotechniques. 1996 Oct; 21(4):694-9. Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA. PMID: 8891223.
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    274. Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. Genomics. 1996 Jan 01; 31(1):123-6. Kwok PY, Deng Q, Zakeri H, Taylor SL, Nickerson DA. PMID: 8808290.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    275. Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry. Biotechniques. 1995 Jul; 19(1):116-21. Parker LT, Deng Q, Zakeri H, Carlson C, Nickerson DA, Kwok PY. PMID: 7669285.
      View in: PubMed   Mentions: 21     Fields:    
    276. Physical calibration of yeast artificial chromosome contig maps by RecA-assisted restriction endonuclease (RARE) cleavage. Genomics. 1994 Nov 15; 24(2):199-210. Gnirke A, Iadonato SP, Kwok PY, Olson MV. PMID: 7698741.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    277. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics. 1994 Sep 01; 23(1):138-44. Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA. PMID: 7829062.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    278. Measurement of relative cerebral blood volume changes with visual stimulation by 'double-dose' gadopentetate-dimeglumine-enhanced dynamic magnetic resonance imaging. Invest Radiol. 1994 Jun; 29 Suppl 2:S157-60. Frank JA, Mattay VS, Duyn J, Sobering G, Barrios FA, Zigun J, Sexton R, Kwok P, Woo J, Moonen C, et al. PMID: 7928216.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    279. Automatable screening of yeast artificial-chromosome libraries based on the oligonucleotide-ligation assay. Genomics. 1992 Aug; 13(4):935-41. Kwok PY, Gremaud MF, Nickerson DA, Hood L, Olson MV. PMID: 1505984.
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    280. Swirls, wrinkles and the whole ball of wax (the source of keratin in cerumen). J Otolaryngol. 1992 Apr; 21(2):142-8. Naiberg JB, Robinson A, Kwok P, Hawke M. PMID: 1374803.
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    281. The embryonic development of the lateral nasal wall from 8 to 24 weeks. Laryngoscope. 1991 Sep; 101(9):992-7. Bingham B, Wang RG, Hawke M, Kwok P. PMID: 1886449.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    282. Persistence of the foramen of Huschke in the adult: an osteological study. J Otolaryngol. 1991 Aug; 20(4):251-3. Wang RG, Bingham B, Hawke M, Kwok P, Li JR. PMID: 1920577.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    283. The immunosuppressant FK506 selectively inhibits expression of early T cell activation genes. J Immunol. 1989 Jul 15; 143(2):718-26. Tocci MJ, Matkovich DA, Collier KA, Kwok P, Dumont F, Lin S, Degudicibus S, Siekierka JJ, Chin J, Hutchinson NI. PMID: 2472451.
      View in: PubMed   Mentions: 128     Fields:    Translation:HumansCells
    284. The embryonic development of the human paraseptal cartilage. J Otolaryngol. 1988 Jun; 17(4):150-4. Wang RG, Kwok P, Hawke M. PMID: 3398102.
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    285. Spontaneous temporomandibular joint fistula into the external auditory canal. J Otolaryngol. 1988 Feb; 17(1):29-31. Hawke M, Kwok P, Shankar L, Wang RG. PMID: 3343717.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    286. Bilateral spontaneous temporomandibular joint herniation into the external auditory canal. J Otolaryngol. 1987 Dec; 16(6):387-9. Hawke M, Kwok P, Mehta M, Wang RG. PMID: 3694748.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    287. The epidermoid formation (Michaels' structure) in the developing middle ear. J Otolaryngol. 1987 Dec; 16(6):327-30. Wang RG, Hawke M, Kwok P. PMID: 2447287.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    288. Association between prostaglandin E2 and placental abruption. Br J Obstet Gynaecol. 1987 Oct; 94(10):1001-2. Leung A, Kwok P, Chang A. PMID: 3479999.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
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