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Pui-Yan Kwok, MD, PhD

Title(s)Professor, Cardiovascular Research Inst
SchoolSchool of Medicine
Address513 Parnassus Ave, HSW
San Francisco CA 94143
Phone415-514-1128
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 MedicineResidency1981Dermatology
    University of California, San Francisco, CA2019Diversity, Equity, and Inclusion Champion Training

    Collapse Research 
    Collapse Research Activities and Funding
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH/NICHD U19HD077627Sep 1, 2018 - Aug 31, 2019
    Role: Co-Principal Investigator
    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/NHGRI U01HG009599Aug 4, 2017 - May 31, 2021
    Role: Principal Investigator
    Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations
    NIH/NIGMS R01GM120772Sep 22, 2016 - May 31, 2020
    Role: Principal Investigator
    Resource-based Center for the Advancement of Precision Medicine in Rheumatology
    NIH/NIAMS P30AR070155Sep 21, 2016 - Aug 31, 2021
    Role: Co-Investigator
    High throughput single molecule approaches for phased genome sequence assembly
    NIH/NHGRI R01HG005946Sep 27, 2010 - Nov 30, 2022
    Role: Principal Investigator
    High throughput single molecule approaches for phased genome sequence assembly
    NIH/NHGRI R56HG005946Sep 27, 2010 - Nov 30, 2018
    Role: Principal Investigator
    Int'l Meetings on Human Genome Variation &Complex Genome Analysis
    NIH/NHGRI R13HG003953Sep 1, 2005 - May 31, 2014
    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/NHGRI 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/NIA R01AG016869Apr 1, 1999 - Mar 31, 2002
    Role: Principal Investigator
    NEW METHODS FOR HIGH THROUGHPUT GENOME ANALYSIS
    NIH/NEI R01EY012557Dec 1, 1998 - Nov 30, 2002
    Role: Principal Investigator
    Molecular Haplotyping By Single Molecule Detection
    NIH/NHGRI R01HG001720Sep 30, 1997 - Mar 31, 2004
    Role: Principal Investigator
    HIGH DENSITY GENETIC MAP OF XQ25-XQ28
    NIH/NHGRI R01HG001439Apr 5, 1996 - Mar 31, 2000
    Role: Principal Investigator
    Dermatology Training Grant
    NIH/NIAMS T32AR007284Jul 1, 1978 - Jun 30, 1998
    Role: Co-Principal Investigator
    UCSF Dermatology Training Grant
    NIH/NIAMS T32AR007175Jul 1, 1976 - Jun 30, 1996
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials
    Collapse Websites
    Collapse In The News

    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. Analysis of putative cis-regulatory elements regulating blood pressure variation. Hum Mol Genet. 2020 May 21. 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.
      View in: PubMed   Mentions:    Fields:    
    2. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. 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.
      View in: PubMed   Mentions:    Fields:    
    4. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. 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.
      View in: PubMed   Mentions: 1     Fields:    
    6. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    7. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    8. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. 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.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    10. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    11. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019 04 16; 10(1):1784. Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. PMID: 30992455.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    12. Genome maps across 26 human populations reveal population-specific patterns of structural variation. Nat Commun. 2019 03 04; 10(1):1025. Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY. PMID: 30833565.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    13. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018 11 21; 39(44):3961-3969. Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, Müller-Nurasyid M, Moes A, Meitinger T, Mak A, Huikuri H, Junttila MJ, Goyette P, Pulit SL, Pazoki R, Tanck MW, Blom MT, Zhao X, Havulinna AS, Jabbari R, Glinge C, Tragante V, Escher SA, Chakravarti A, Ehret G, Coresh J, Li M, Prineas RJ, Franco OH, Kwok PY, Lumley T, Dumas F, McKnight B, Rotter JI, Lemaitre RN, Heckbert SR, O'Donnell CJ, Hwang SJ, Tardif JC, VanDenburgh M, Uitterlinden AG, Hofman A, Stricker BHC, de Bakker PIW, Franks PW, Jansson JH, Asselbergs FW, Halushka MK, Maleszewski JJ, Tfelt-Hansen J, Engstrøm T, Salomaa V, Virmani R, Kolodgie F, Wilde AAM, Tan HL, Bezzina CR, Eijgelsheim M, Rioux JD, Jouven X, Kääb S, Psaty BM, Siscovick DS, Arking DE, Sotoodehnia N. PMID: 30169657.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    14. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    15. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327. Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, Plon SE, Jarvik GP. PMID: 30193136.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    16. De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. Nat Commun. 2018 08 02; 9(1):3040. Wong KHY, Levy-Sakin M, Kwok PY. PMID: 30072691.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    17. 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. PMID: 29509491.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    18. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    19. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    20. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:AnimalsCells
    22. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    23. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    24. 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.
      View in: PubMed   Mentions:
    25. High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres. Nucleic Acids Res. 2017 May 19; 45(9):e73. Young E, Pastor S, Rajagopalan R, McCaffrey J, Sibert J, Mak ACY, Kwok PY, Riethman H, Xiao M. PMID: 28180280.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    26. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    27. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    28. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. PMID: 28096516.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansPHPublic Health
    29. Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia. JACC Clin Electrophysiol. 2017 03; 3(3):276-288. Roberts JD, Gollob MH, Young C, Connors SP, Gray C, Wilton SB, Green MS, Zhu DW, Hodgkinson KA, Poon A, Li Q, Orr N, Tang AS, Klein GJ, Wojciak J, Campagna J, Olgin JE, Badhwar N, Vedantham V, Marcus GM, Kwok PY, Deo RC, Scheinman MM. PMID: 29759522.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    30. 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.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    31. 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.
      View in: PubMed   Mentions:
    32. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. Ophthalmic Genet. 2017 Jul-Aug; 38(4):371-375. Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. PMID: 27661448.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    33. 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.
      View in: PubMed   Mentions: 1     Fields:    
    34. Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis. Arthritis Rheumatol. 2016 09; 68(9):2257-62. Mak AC, Tang PL, Cleveland C, Smith MH, Kari Connolly M, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA. PMID: 27111861.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    35. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    36. A hybrid approach for de novo human genome sequence assembly and phasing. Nat Methods. 2016 07; 13(7):587-90. Mostovoy Y, Levy-Sakin M, Lam J, Lam ET, Hastie AR, Marks P, Lee J, Chu C, Lin C, Džakula Ž, Cao H, Schlebusch SA, Giorda K, Schnall-Levin M, Wall JD, Kwok PY. PMID: 27159086.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    37. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 05; 146:163-71. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    38. 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.
      View in: PubMed   Mentions: 1     Fields:    
    39. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    40. Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. Genetics. 2016 Jan; 202(1):351-62. Mak AC, Lai YY, Lam ET, Kwok TP, Leung AK, Poon A, Mostovoy Y, Hastie AR, Stedman W, Anantharaman T, Andrews W, Zhou X, Pang AW, Dai H, Chu C, Lin C, Wu JJ, Li CM, Li JW, Yim AK, Chan S, Sibert J, Džakula Ž, Cao H, Yiu SM, Chan TF, Yip KY, Xiao M, Kwok PY. PMID: 26510793.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    41. Genomewide Association Study of Tacrolimus Concentrations in African American Kidney Transplant Recipients Identifies Multiple CYP3A5 Alleles. Am J Transplant. 2016 Feb; 16(2):574-82. Oetting WS, Schladt DP, Guan W, Miller MB, Remmel RP, Dorr C, Sanghavi K, Mannon RB, Herrera B, Matas AJ, Salomon DR, Kwok PY, Keating BJ, Israni AK, Jacobson PA. PMID: 26485092.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    42. An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish. Elife. 2015 Oct 16; 4:e09406. Zou J, Tran D, Baalbaki M, Tang LF, Poon A, Pelonero A, Titus EW, Yuan C, Shi C, Patchava S, Halper E, Garg J, Movsesyan I, Yin C, Wu R, Wilsbacher LD, Liu J, Hager RL, Coughlin SR, Jinek M, Pullinger CR, Kane JP, Hart DO, Kwok PY, Deo RC. PMID: 26473617.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    43. Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults. PLoS Genet. 2015 Oct; 11(10):e1005573. Hochner H, Allard C, Granot-Hershkovitz E, Chen J, Sitlani CM, Sazdovska S, Lumley T, McKnight B, Rice K, Enquobahrie DA, Meigs JB, Kwok P, Hivert MF, Borecki IB, Gomez F, Wang T, van Duijn C, Amin N, Rotter JI, Stamatoyannopoulos J, Meiner V, Manor O, Dupuis J, Friedlander Y, Siscovick DS. PMID: 26451733.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    44. Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults. J Gerontol A Biol Sci Med Sci. 2015 Nov; 70(11):1418-24. Tranah GJ, Yaffe K, Katzman SM, Lam ET, Pawlikowska L, Kwok PY, Schork NJ, Manini TM, Kritchevsky S, Thomas F, Newman AB, Harris TB, Coleman AL, Gorin MB, Helzner EP, Rowbotham MC, Browner WS, Cummings SR. PMID: 26328603.
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    45. 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.
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    46. Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway. Development. 2015 Aug 15; 142(16):2775-80. Hu J, Verzi MP, Robinson AS, Tang PL, Hua LL, Xu SM, Kwok PY, Black BL. PMID: 26160899.
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    47. Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nat Methods. 2015 Aug; 12(8):780-6. Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, Stütz AM, Stedman W, Anantharaman T, Hastie A, Dai H, Fritz MH, Cao H, Cohain A, Deikus G, Durrett RE, Blanchard SC, Altman R, Chin CS, Guo Y, Paxinos EE, Korbel JO, Darnell RB, McCombie WR, Kwok PY, Mason CE, Schadt EE, Bashir A. PMID: 26121404.
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    48. 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, Kwok PY, Risch N, Schaefer C, Blackburn EH. PMID: 26092717.
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    49. Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1051-60. Kvale MN, Hesselson S, Hoffmann TJ, Cao Y, Chan D, Connell S, Croen LA, Dispensa BP, Eshragh J, Finn A, Gollub J, Iribarren C, Jorgenson E, Kushi LH, Lao R, Lu Y, Ludwig D, Mathauda GK, McGuire WB, Mei G, Miles S, Mittman M, Patil M, Quesenberry CP, Ranatunga D, Rowell S, Sadler M, Sakoda LC, Shapero M, Shen L, Shenoy T, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Wan E, Webster T, Whitmer RA, Wong S, Zau C, Zhan Y, Schaefer C, Kwok PY, Risch N. PMID: 26092718.
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    50. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1285-95. Banda Y, Kvale MN, Hoffmann TJ, Hesselson SE, Ranatunga D, Tang H, Sabatti C, Croen LA, Dispensa BP, Henderson M, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Olberg D, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Sciortino S, Shen L, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Kwok PY, Schaefer C, Risch N. PMID: 26092716.
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    51. A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. Cancer Discov. 2015 Aug; 5(8):878-91. Hoffmann TJ, Van Den Eeden SK, Sakoda LC, Jorgenson E, Habel LA, Graff RE, Passarelli MN, Cario CL, Emami NC, Chao CR, Ghai NR, Shan J, Ranatunga DK, Quesenberry CP, Aaronson D, Presti J, Wang Z, Berndt SI, Chanock SJ, McDonnell SK, French AJ, Schaid DJ, Thibodeau SN, Li Q, Freedman ML, Penney KL, Mucci LA, Haiman CA, Henderson BE, Seminara D, Kvale MN, Kwok PY, Schaefer C, Risch N, Witte JS. PMID: 26034056.
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    52. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 01; 24(15):4340-52. Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM. PMID: 25954033.
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    53. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. PMID: 25894502.
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    54. 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.
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    55. 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.
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    56. 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.
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    57. 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.
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    58. 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.
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    59. 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.
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    60. 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.
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    61. 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.
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    62. 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.
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    63. 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.
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    64. 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.
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    65. 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.
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    66. 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.
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    67. 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.
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    68. 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.
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    69. 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.
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    70. 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.
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    71. 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.
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    72. 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.
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    73. [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.
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    74. 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.
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    75. 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.
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    76. 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.
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    77. 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.
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    78. 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.
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    79. 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.
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    80. 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.
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    81. 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.
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    82. 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.
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    83. 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.
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    84. 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.
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    85. 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.
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    86. 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.
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    87. 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. PMID: 22659402.
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    88. 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.
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    89. 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.
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    90. 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.
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    91. 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.
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    92. 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.
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    93. 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.
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    94. 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, Finn A, Schaefer C, Kwok PY, Risch N. PMID: 21903159.
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    95. 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.
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    96. 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.
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    97. 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.
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    98. 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, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N. PMID: 21565264.
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    99. 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.
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    100. 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.
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    101. 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.
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    102. 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.
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    103. 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.
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    104. 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.
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    105. 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.
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    106. Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol. 2011 May; 131(5):1105-9. Riveira-Munoz E, He SM, Escaramís G, Stuart PE, Hüffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen PL, Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN, Capon F, Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ, Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A, Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT, Estivill X. PMID: 21107349.
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    107. Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis. Pharmacogenet Genomics. 2010 Oct; 20(10):619-29. Kaspera R, Naraharisetti SB, Tamraz B, Sahele T, Cheesman MJ, Kwok PY, Marciante K, Heckbert SR, Psaty BM, Totah RA. PMID: 20739906.
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    108. A common variant in the telomerase RNA component is associated with short telomere length. PLoS One. 2010 Sep 27; 5(9):e13048. Njajou OT, Blackburn EH, Pawlikowska L, Mangino M, Damcott CM, Kwok PY, Spector TD, Newman AB, Harris TB, Cummings SR, Cawthon RM, Shuldiner AR, Valdes AM, Hsueh WC. PMID: 20885959.
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    109. Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol. 2010 Dec; 130(12):2768-72. Li Y, Liao W, Cargill M, Chang M, Matsunami N, Feng BJ, Poon A, Callis-Duffin KP, Catanese JJ, Bowcock AM, Leppert MF, Kwok PY, Krueger GG, Begovich AB. PMID: 20668468.
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    110. The DNA damage-binding protein XPC is a frequent target for inactivation in squamous cell carcinomas. Am J Pathol. 2010 Aug; 177(2):555-62. de Feraudy S, Ridd K, Richards LM, Kwok PY, Revet I, Oh D, Feeney L, Cleaver JE. PMID: 20616346.
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    111. HGV2009 meeting: bigger and better studies provide more answers and more questions. Hum Mutat. 2010 Jul; 31(7):886-8. Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ. PMID: 20506253.
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    112. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010 May 11; 5(5):e10565. Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A. PMID: 20485507.
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    113. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature. 2010 Apr 29; 464(7293):1351-6. Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok PY, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF. PMID: 20428171.
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    114. Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study. J Clin Endocrinol Metab. 2010 Jun; 95(6):2885-91. Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA. PMID: 20371666.
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    115. Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning. Cell Stem Cell. 2010 Jan 08; 6(1):16-20. Lo B, Parham L, Alvarez-Buylla A, Cedars M, Conklin B, Fisher S, Gates E, Giudice L, Halme DG, Hershon W, Kriegstein A, Kwok PY, Wagner R. PMID: 20085739.
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    116. Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis. Am J Pathol. 2010 Feb; 176(2):1018-27. Su H, Kim H, Pawlikowska L, Kitamura H, Shen F, Cambier S, Markovics J, Lawton MT, Sidney S, Bollen AW, Kwok PY, Reichardt L, Young WL, Yang GY, Nishimura SL. PMID: 20019187.
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    117. Green technologies for room temperature nucleic acid storage. Curr Issues Mol Biol. 2010; 12(3):135-42. Wan E, Akana M, Pons J, Chen J, Musone S, Kwok PY, Liao W. PMID: 19801719.
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    118. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics. 2009 Oct; 19(10):770-80. Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. PMID: 19745787.
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    119. Glucocorticoid receptor gene and depression in patients with coronary heart disease: the Heart and Soul Study-2009 Curt Richter Award Winner. Psychoneuroendocrinology. 2009 Nov; 34(10):1574-81. Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA. PMID: 19783104.
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    120. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. J Allergy Clin Immunol. 2009 Nov; 124(5):1099-105.e1-4. Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH. PMID: 19748655.
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    121. Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PLoS One. 2009 Sep 09; 4(9):e6942. Hesselson SE, Matsson P, Shima JE, Fukushima H, Yee SW, Kobayashi Y, Gow JM, Ha C, Ma B, Poon A, Johns SJ, Stryke D, Castro RA, Tahara H, Choi JH, Chen L, Picard N, Sjödin E, Roelofs MJ, Ferrin TE, Myers R, Kroetz DL, Kwok PY, Giacomini KM. PMID: 19742321.
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    122. Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease. Heart Rhythm. 2009 Dec; 6(12):1745-50. Tseng ZH, Vittinghoff E, Musone SL, Lin F, Whiteman D, Pawlikowska L, Kwok PY, Olgin JE, Aouizerat BE. PMID: 19959123.
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    123. Is altered expression of hepatic insulin-related genes in growth hormone receptor knockout mice due to GH resistance or a difference in biological life spans? J Gerontol A Biol Sci Med Sci. 2009 Nov; 64(11):1126-33. Panici JA, Wang F, Bonkowski MS, Spong A, Bartke A, Pawlikowska L, Kwok PY, Masternak MM. PMID: 19706698.
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    124. EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations. Circ Cardiovasc Genet. 2009 Oct; 2(5):476-82. Weinsheimer S, Kim H, Pawlikowska L, Chen Y, Lawton MT, Sidney S, Kwok PY, McCulloch CE, Young WL. PMID: 20031623.
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    125. Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease. J Med Genet. 2010 Jan; 47(1):1-7. Scherer ML, Nalls MA, Pawlikowska L, Ziv E, Mitchell G, Huntsman S, Hu D, Sutton-Tyrrell K, Lakatta EG, Hsueh WC, Newman AB, Tandon A, Kim L, Kwok PY, Sung A, Li R, Psaty B, Reiner AP, Harris T. PMID: 19586928.
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    126. Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008. Hum Mutat. 2009 Jul; 30(7):1134-8. Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW. PMID: 19384970.
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    127. Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell. 2009 Aug; 8(4):460-72. Pawlikowska L, Hu D, Huntsman S, Sung A, Chu C, Chen J, Joyner AH, Schork NJ, Hsueh WC, Reiner AP, Psaty BM, Atzmon G, Barzilai N, Cummings SR, Browner WS, Kwok PY, Ziv E. PMID: 19489743.
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    128. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009 Jun; 41(6):708-11. Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T, Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolná M, Nepom GT, Salomon D, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P, Tokunaga K, Kwok PY, Risch N, Mignot E. PMID: 19412176.
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    129. Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. Exp Gerontol. 2009 May; 44(5):350-5. Walston JD, Matteini AM, Nievergelt C, Lange LA, Fallin DM, Barzilai N, Ziv E, Pawlikowska L, Kwok P, Cummings SR, Kooperberg C, LaCroix A, Tracy RP, Atzmon G, Lange EM, Reiner AP. PMID: 19249341.
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    130. Direct determination of haplotypes from single DNA molecules. Nat Methods. 2009 Mar; 6(3):199-201. Xiao M, Wan E, Chu C, Hsueh WC, Cao Y, Kwok PY. PMID: 19198595.
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    131. Importing human pluripotent stem cell lines derived at another institution: tailoring review to ethical concerns. Cell Stem Cell. 2009 Feb 06; 4(2):115-23. Lo B, Parham L, Broom C, Cedars M, Gates E, Giudice L, Halme DG, Hershon W, Kriegstein A, Kwok PY, Oberman M, Roberts C, Wagner R. PMID: 19200800.
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    132. Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function. Pharmacogenomics J. 2009 Apr; 9(2):127-36. Chen Y, Teranishi K, Li S, Yee SW, Hesselson S, Stryke D, Johns SJ, Ferrin TE, Kwok P, Giacomini KM. PMID: 19172157.
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    133. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009 Feb; 41(2):199-204. Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR. PMID: 19169254.
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    134. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet. 2009 Feb; 41(2):211-5. de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, Lázaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X. PMID: 19169253.
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    135. Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). J Pharmacol Exp Ther. 2009 Apr; 329(1):262-71. Tahara H, Yee SW, Urban TJ, Hesselson S, Castro RA, Kawamoto M, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Giacomini KM. PMID: 19141711.
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    136. Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). J Pharmacol Exp Ther. 2009 Mar; 328(3):699-707. Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. PMID: 19098160.
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    137. Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation. Cerebrovasc Dis. 2009; 27(2):176-82. Kim H, Hysi PG, Pawlikowska L, Poon A, Burchard EG, Zaroff JG, Sidney S, Ko NU, Achrol AS, Lawton MT, McCulloch CE, Kwok PY, Young WL. PMID: 19092239.
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    138. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 2009 Feb 01; 18(3):463-71. Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. PMID: 18996919.
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    139. Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. J Invest Dermatol. 2009 Mar; 129(3):629-34. Li Y, Liao W, Chang M, Schrodi SJ, Bui N, Catanese JJ, Poon A, Matsunami N, Callis-Duffin KP, Leppert MF, Bowcock AM, Kwok PY, Krueger GG, Begovich AB. PMID: 18923449.
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    140. Population stratification in a case-control study of brain arteriovenous malformation in Latinos. Neuroepidemiology. 2008; 31(4):224-8. Kim H, Hysi PG, Pawlikowska L, Choudhry S, González Burchard E, Kwok PY, Sidney S, McCulloch CE, Young WL. PMID: 18841030.
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    141. Differences in allergic sensitization by self-reported race and genetic ancestry. J Allergy Clin Immunol. 2008 Oct; 122(4):820-827.e9. Yang JJ, Burchard EG, Choudhry S, Johnson CC, Ownby DR, Favro D, Chen J, Akana M, Ha C, Kwok PY, Krajenta R, Havstad SL, Joseph CL, Seibold MA, Shriver MD, Williams LK. PMID: 19014772.
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    142. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet. 2008 Sep; 40(9):1062-4. Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, Ortmann W, Shifrin N, Petri MA, Kamboh MI, Manzi S, Seldin MF, Gregersen PK, Behrens TW, Ma A, Kwok PY, Criswell LA. PMID: 19165919.
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    143. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet. 2008 Apr 25; 4(4):e1000068. Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. PMID: 18437244.
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    144. An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients. J Lipid Res. 2008 Aug; 49(8):1846-54. Pullinger CR, Aouizerat BE, Movsesyan I, Durlach V, Sijbrands EJ, Nakajima K, Poon A, Dallinga-Thie GM, Hattori H, Green LL, Kwok PY, Havel RJ, Frost PH, Malloy MJ, Kane JP. PMID: 18441017.
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    145. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 2008 Mar 28; 4(3):e1000041. Liu Y, Helms C, Liao W, Zaba LC, Duan S, Gardner J, Wise C, Miner A, Malloy MJ, Pullinger CR, Kane JP, Saccone S, Worthington J, Bruce I, Kwok PY, Menter A, Krueger J, Barton A, Saccone NL, Bowcock AM. PMID: 18369459.
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    146. Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. Heart Rhythm. 2008 Jun; 5(6):814-21. Tseng ZH, Aouizerat BE, Pawlikowska L, Vittinghoff E, Lin F, Whiteman D, Poon A, Herrington D, Howard TD, Varosy PD, Hulley SB, Malloy M, Kane J, Kwok PY, Olgin JE. PMID: 18534365.
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    147. Endothelial nitric oxide synthase polymorphism (-786T->C) and increased risk of angiographic vasospasm after aneurysmal subarachnoid hemorrhage. Stroke. 2008 Apr; 39(4):1103-8. Ko NU, Rajendran P, Kim H, Rutkowski M, Pawlikowska L, Kwok PY, Higashida RT, Lawton MT, Smith WS, Zaroff JG, Young WL. PMID: 18309169.
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    148. Natural variation in four human collagen genes across an ethnically diverse population. Genomics. 2008 Apr; 91(4):307-14. Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY. PMID: 18272325.
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    149. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 Oct 18; 449(7164):913-8. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, 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, Johnson TA, 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: 17943131.
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    150. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61. 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.
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    151. 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.
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    152. 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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    153. 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.
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    154. 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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    155. 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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    156. 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.
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    157. 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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    158. 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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    159. Recommendations of the 2006 Human Variome Project meeting. Nat Genet. 2007 Apr; 39(4):433-6. Cotton RG, 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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    160. 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. PMID: 17357077.
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    161. 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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    162. 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.
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    163. 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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    164. 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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    165. 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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    166. 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.
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    167. 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.
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    168. 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.
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    169. 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.
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    170. 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.
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    171. 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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    172. 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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    173. 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. PMID: 16322490.
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    174. 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. PMID: 16283388.
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    175. 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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    176. 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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    177. 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. PMID: 16179574.
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    178. 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.
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    179. 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. PMID: 15961272.
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    180. 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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    181. Extract signal out of noise. Hum Genomics. 2005 Mar; 2(1):2-3. Kwok PY. PMID: 15814063.
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    182. 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.
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    183. 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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    184. 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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    185. 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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    186. 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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    187. 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. PMID: 15331795.
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    188. 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.
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    189. Single-molecule analysis for molecular haplotyping. Hum Mutat. 2004 May; 23(5):442-6. Kwok PY, Xiao M. PMID: 15108275.
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    190. 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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    191. 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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    192. 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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    193. 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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    194. DNA analysis by fluorescence quenching detection. Genome Res. 2003 May; 13(5):932-9. Xiao M, Kwok PY. PMID: 12727909.
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    195. 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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    196. 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.
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    197. SNP discovery by direct DNA sequencing. Methods Mol Biol. 2003; 212:71-84. Kwok PY, Duan S. PMID: 12491904.
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    198. 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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    199. Kinetic FP-TDI assay for SNP allele frequency determination. Biotechniques. 2003 Jan; 34(1):190-7. Xiao M, Latif SM, Kwok PY. PMID: 12545559.
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    200. 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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    201. 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.
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    202. 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.
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    203. Making 'random amplification' predictable in whole genome analysis. Trends Biotechnol. 2002 Oct; 20(10):411-2. Kwok PY. PMID: 12220898.
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    204. SNP databases and pharmacogenetics: great start, but a long way to go. Hum Mutat. 2002 Sep; 20(3):174-9. Marsh S, Kwok P, McLeod HL. PMID: 12203989.
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    205. 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.
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    206. SNP genotyping with fluorescence polarization detection. Hum Mutat. 2002 Apr; 19(4):315-23. Kwok PY. PMID: 11933186.
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    207. Paternal origins of complete hydatidiform moles proven by whole genome single-nucleotide polymorphism haplotyping. Genomics. 2002 Jan; 79(1):58-62. Fan JB, Surti U, Taillon-Miller P, Hsie L, Kennedy GC, Hoffner L, Ryder T, Mutch DG, Kwok PY. PMID: 11827458.
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    208. Genomics. Genetic association by whole-genome analysis? Science. 2001 Nov 23; 294(5547):1669-70. Kwok PY. PMID: 11721042.
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    209. The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine. Hum Mol Genet. 2001 Oct 01; 10(20):2195-8. Miller RD, Kwok PY. PMID: 11673401.
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    210. Universal SNP genotyping assay with fluorescence polarization detection. Biotechniques. 2001 Sep; 31(3):560, 562, 564-8, passim. Hsu TM, Chen X, Duan S, Miller RD, Kwok PY. PMID: 11570500.
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    211. 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.
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    212. Advances in molecular medicine. J Am Acad Dermatol. 2001 May; 44(5):847-55. Hsu TM, Kwok PY. PMID: 11312435.
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    213. 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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    214. 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.
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    215. 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.
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    216. 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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    217. 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.
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    218. 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.
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    219. 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. PMID: 11237013.
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    220. 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.
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    221. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet. 2001; 2:235-58. Kwok PY. PMID: 11701650.
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    222. Reflections on a DNA mutation scanning tool. Nat Biotechnol. 2001 Jan; 19(1):18-9. Kwok PY. PMID: 11135543.
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    223. 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.
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    224. 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.
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    225. Approaches to allele frequency determination. Pharmacogenomics. 2000 May; 1(2):231-5. Kwok PY. PMID: 11256594.
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    226. 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.
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    227. 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.
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    228. 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.
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    229. High-throughput genotyping assay approaches. Pharmacogenomics. 2000 Feb; 1(1):95-100. Kwok PY. PMID: 11258600.
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    230. 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.
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    231. 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.
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    232. 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.
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    233. 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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    234. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999 May; 9(5):492-8. Chen X, Levine L, Kwok PY. PMID: 10330129.
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    235. 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.
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    236. 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.
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    237. 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.
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    238. Genotyping by mass spectrometry takes flight. Nat Biotechnol. 1998 Dec; 16(13):1314-5. Kwok PY. PMID: 9853606.
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    239. 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.
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    240. 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.
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    241. 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.
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    242. 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.
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    243. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 1998 May; 8(5):549-56. Chen X, Livak KJ, Kwok PY. PMID: 9582198.
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    244. 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.
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    245. Detection of single nucleotide variations. Genet Eng (N Y). 1998; 20:125-34. Kwok PY, Chen X. PMID: 9666557.
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    246. Single nucleotide polymorphism hunting in cyberspace. Hum Mutat. 1998; 12(4):221-5. Gu Z, Hillier L, Kwok PY. PMID: 9744471.
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    247. 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.
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    248. 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.
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    249. 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.
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    250. 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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    251. 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.
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    252. 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.
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    253. 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.
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    254. 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.
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    255. 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. PMID: 7928216.
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    256. 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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    257. 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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    258. 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.
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    259. 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.
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    260. 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.
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    261. 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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    262. 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: 2     Fields:    Translation:Humans
    263. 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.
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    264. 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.
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    265. 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.
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