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    Pui-Yan Kwok, MD, PhD

    SchoolUCSF School of Medicine
    DepartmentCardiovascular Research Inst
    Address555 Mission Bay Blvd South
    San Francisco CA 94158
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      Collapse Biography 
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      University of ChicagoM.D.Pritzker School of Medicine1987

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      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.
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      1. 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. 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.
        View in: PubMed
      2. Hu J, Verzi MP, Robinson AS, Tang PL, Hua LL, Xu SM, Kwok PY, Black BL. 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.
        View in: PubMed
      3. 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. Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nat Methods. 2015 Aug; 12(8):780-6.
        View in: PubMed
      4. 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. 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.
        View in: PubMed
      5. 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. 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.
        View in: PubMed
      6. 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. 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.
        View in: PubMed
      7. 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. 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.
        View in: PubMed
      8. 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. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 1; 24(15):4340-52.
        View in: PubMed
      9. 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. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
        View in: PubMed
      10. 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. The genetics of splicing in neuroblastoma. Cancer Discov. 2015 Apr; 5(4):380-95.
        View in: PubMed
      11. 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. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clin Genet. 2015 Nov; 88(5):468-73.
        View in: PubMed
      12. 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. Prioritizing causal disease genes using unbiased genomic features. Genome Biol. 2014; 15(12):534.
        View in: PubMed
      13. Roberts JD, Longoria J, Poon A, Gollob MH, Dewland TA, Kwok PY, Olgin JE, Deo RC, Marcus GM. Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation. Circ Cardiovasc Genet. 2015 Feb; 8(1):50-7.
        View in: PubMed
      14. 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. Expression Quantitative Trait Loci and Receptor Pharmacology Implicate Arg1 and the GABA-A Receptor as Therapeutic Targets in Neuroblastoma. Cell Rep. 2014 Nov 6; 9(3):1034-46.
        View in: PubMed PMC4251494
      15. Wall JD, Tang LF, Zerbe B, Kvale MN, Kwok PY, Schaefer C, Risch N. Estimating genotype error rates from high-coverage next-generation sequence data. Genome Res. 2014 Nov; 24(11):1734-9.
        View in: PubMed PMC4216915
      16. 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. Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function. JAMA Neurol. 2014 Oct; 71(10):1228-36.
        View in: PubMed
      17. Ge X, Kwok PY, Shieh JT. Prioritizing genes for X-linked diseases using population exome data. Hum Mol Genet. 2015 Feb 1; 24(3):599-608.
        View in: PubMed
      18. 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. Organic cation transporter variation and response to smoking cessation therapies. Nicotine Tob Res. 2014 Dec; 16(12):1638-46.
        View in: PubMed
      19. 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. 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.
        View in: PubMed
      20. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet. 2015 Mar; 23(3):337-41.
        View in: PubMed
      21. Hariani GD, Lam ET, Lam EJ, Havener T, Kwok PY, McLeod HL, Wagner MJ, Motsinger-Reif AA. Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics. BMC Res Notes. 2014; 7:360.
        View in: PubMed PMC4068968
      22. 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. Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. BMC Genomics. 2014; 15:387.
        View in: PubMed PMC4053653
      23. Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. 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.
        View in: PubMed PMC4018404
      24. 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. 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.
        View in: PubMed PMC3966761
      25. Bendjilali N, Hsueh WC, He Q, Willcox DC, Nievergelt CM, Donlon TA, Kwok PY, Suzuki M, Willcox BJ. 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.
        View in: PubMed
      26. Padhukasahasram B, Yang JJ, Levin AM, Yang M, Burchard EG, Kumar R, Kwok PY, Seibold MA, Lanfear DE, Williams LK. 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.
        View in: PubMed PMC4098013
      27. 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. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014 Mar; 11(3):471-7.
        View in: PubMed PMC3966996
      28. 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. Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI. Obesity (Silver Spring). 2014 Apr; 22(4):1165-71.
        View in: PubMed PMC3968220
      29. Huber AM, Hornung J, Plontke S, Röösli C, Iro H, Strutz J, Rahne T, Pezier TF, Kwok P. [NiTiBOND an optimized self-crimping stapes prosthesis for treatment of otosclerosis]. Laryngorhinootologie. 2014 Mar; 93(3):178-85.
        View in: PubMed
      30. 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. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. PLoS One. 2013; 8(10):e71434.
        View in: PubMed PMC3789669
      31. Martin PM, Yang X, Robin N, Lam E, Rabinowitz JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Cheyette BN. A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation. Transl Psychiatry. 2013; 3:e301.
        View in: PubMed PMC3784764
      32. 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. OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis. Pharmacogenet Genomics. 2013 Jul; 23(7):355-64.
        View in: PubMed PMC3894639
      33. Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ. HGV2012: leveraging next-generation technology and large datasets to advance disease research. Hum Mutat. 2013 Apr; 34(4):657-60.
        View in: PubMed PMC3606662
      34. 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. 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.
        View in: PubMed PMC3566107
      35. 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. Nicotinic acetylcholine receptor variation and response to smoking cessation therapies. Pharmacogenet Genomics. 2013 Feb; 23(2):94-103.
        View in: PubMed PMC3563676
      36. 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. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15; 22(4):696-703.
        View in: PubMed PMC3554199
      37. 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. 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.
        View in: PubMed PMC3596497
      38. Siegel DH, Shieh JT, 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. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-84.
        View in: PubMed PMC3971866
      39. 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. Beta-adrenergic receptor polymorphisms and cardiac graft function in potential organ donors. Am J Transplant. 2012 Dec; 12(12):3377-86.
        View in: PubMed PMC3513582
      40. Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, Kwok PY. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol. 2012 Aug; 30(8):771-6.
        View in: PubMed PMC3817024
      41. Baday M, Cravens A, Hastie A, Kim H, Kudeki DE, Kwok PY, Xiao M, Selvin PR. Multicolor super-resolution DNA imaging for genetic analysis. Nano Lett. 2012 Jul 11; 12(7):3861-6.
        View in: PubMed PMC3880789
      42. Johnson CO, Lemaitre RN, Fahrenbruch CE, Hesselson S, Sotoodehnia N, McKnight B, Rice KM, Kwok PY, Siscovick DS, Rea TD. Common variation in fatty acid genes and resuscitation from sudden cardiac arrest. Circ Cardiovasc Genet. 2012 Aug 1; 5(4):422-9.
        View in: PubMed PMC3422654
      43. 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. Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly. Biochim Biophys Acta. 2012 Sep; 1817(9):1691-700.
        View in: PubMed PMC3389152
      44. Floyd JS, Kaspera R, Marciante KD, Weiss NS, Heckbert SR, Lumley T, Wiggins KL, Tamraz B, Kwok PY, Totah RA, Psaty BM. A screening study of drug-drug interactions in cerivastatin users: an adverse effect of clopidogrel. Clin Pharmacol Ther. 2012 May; 91(5):896-904.
        View in: PubMed PMC3830936
      45. Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY. HGV2011: personalized genomic medicine meets the incidentalome. Hum Mutat. 2012 Mar; 33(3):582-5.
        View in: PubMed PMC3867005
      46. Birnbaum RY, Hayashi G, Cohen I, Poon A, Chen H, Lam ET, Kwok PY, Birk OS, Liao W. Association analysis identifies ZNF750 regulatory variants in psoriasis. BMC Med Genet. 2011; 12:167.
        View in: PubMed PMC3274454
      47. Lam ET, Bracci PM, Holly EA, Chu C, Poon A, Wan E, White K, Kwok PY, Pawlikowska L, Tranah GJ. Mitochondrial DNA sequence variation and risk of pancreatic cancer. Cancer Res. 2012 Feb 1; 72(3):686-95.
        View in: PubMed PMC3271167
      48. 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. 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.
        View in: PubMed PMC3203814
      49. 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. A common 5'-UTR variant in MATE2-K is associated with poor response to metformin. Clin Pharmacol Ther. 2011 Nov; 90(5):674-84.
        View in: PubMed PMC3329222
      50. 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. 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.
        View in: PubMed PMC3502750
      51. 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. Temporal dissection of tumorigenesis in primary cancers. Cancer Discov. 2011 Jul; 1(2):137-43.
        View in: PubMed PMC3187561
      52. Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY, Olgin JE, Tseng ZH. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. BMC Cardiovasc Disord. 2011; 11:29.
        View in: PubMed PMC3141757
      53. 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. Cerivastatin, genetic variants, and the risk of rhabdomyolysis. Pharmacogenet Genomics. 2011 May; 21(5):280-8.
        View in: PubMed PMC3076530
      54. 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. Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics. 2011 Aug; 98(2):79-89.
        View in: PubMed PMC3146553
      55. Chen H, Poon A, Yeung C, Helms C, Pons J, Bowcock AM, Kwok PY, Liao W. A genetic risk score combining ten psoriasis risk loci improves disease prediction. PLoS One. 2011; 6(4):e19454.
        View in: PubMed PMC3084857
      56. 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. Replication and extension of association between common genetic variants in SIM1 and human adiposity. Obesity (Silver Spring). 2011 Dec; 19(12):2394-403.
        View in: PubMed
      57. 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. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82.
        View in: PubMed
      58. 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. Functional characterization of liver enhancers that regulate drug-associated transporters. Clin Pharmacol Ther. 2011 Apr; 89(4):571-8.
        View in: PubMed PMC3227682
      59. Musone SL, Taylor KE, Nititham J, Chu C, Poon A, Liao W, Lam ET, Ma A, Kwok PY, Criswell LA. Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun. 2011 Apr; 12(3):176-82.
        View in: PubMed PMC3152744
      60. Mikhak B, Weinsheimer S, Pawlikowska L, Poon A, Kwok PY, Lawton MT, Chen Y, Zaroff JG, Sidney S, McCulloch CE, Young WL, Kim H. Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations. Cerebrovasc Dis. 2011; 31(4):338-45.
        View in: PubMed PMC3030504
      61. 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. Common variants in P2RY11 are associated with narcolepsy. Nat Genet. 2011 Jan; 43(1):66-71.
        View in: PubMed PMC3019286
      62. 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. 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.
        View in: PubMed PMC3386316
      63. Kaspera R, Naraharisetti SB, Tamraz B, Sahele T, Cheesman MJ, Kwok PY, Marciante K, Heckbert SR, Psaty BM, Totah RA. Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis. Pharmacogenet Genomics. 2010 Oct; 20(10):619-29.
        View in: PubMed PMC2993694
      64. 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. A common variant in the telomerase RNA component is associated with short telomere length. PLoS One. 2010; 5(9):e13048.
        View in: PubMed PMC2946401
      65. 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. Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol. 2010 Dec; 130(12):2768-72.
        View in: PubMed PMC3680368
      66. de Feraudy S, Ridd K, Richards LM, Kwok PY, Revet I, Oh D, Feeney L, Cleaver JE. 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.
        View in: PubMed PMC2913339
      67. Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ. HGV2009 meeting: bigger and better studies provide more answers and more questions. Hum Mutat. 2010 Jul; 31(7):886-8.
        View in: PubMed PMC3871991
      68. 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. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010; 5(5):e10565.
        View in: PubMed PMC2868029
      69. 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. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature. 2010 Apr 29; 464(7293):1351-6.
        View in: PubMed PMC2862593
      70. Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA. Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study. J Clin Endocrinol Metab. 2010 Jun; 95(6):2885-91.
        View in: PubMed
      71. 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. Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning. Cell Stem Cell. 2010 Jan 8; 6(1):16-20.
        View in: PubMed PMC4035242
      72. 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. Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis. Am J Pathol. 2010 Feb; 176(2):1018-27.
        View in: PubMed PMC2808104
      73. Wan E, Akana M, Pons J, Chen J, Musone S, Kwok PY, Liao W. Green technologies for room temperature nucleic acid storage. Curr Issues Mol Biol. 2010; 12(3):135-42.
        View in: PubMed PMC4099058
      74. 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. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics. 2009 Oct; 19(10):770-80.
        View in: PubMed PMC2976711
      75. Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA. 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.
        View in: PubMed PMC2776666
      76. Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH. 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.
        View in: PubMed PMC2783561
      77. 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. Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PLoS One. 2009; 4(9):e6942.
        View in: PubMed PMC2735003
      78. Tseng ZH, Vittinghoff E, Musone SL, Lin F, Whiteman D, Pawlikowska L, Kwok PY, Olgin JE, Aouizerat BE. Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease. Heart Rhythm. 2009 Dec; 6(12):1745-50.
        View in: PubMed PMC2789271
      79. Panici JA, Wang F, Bonkowski MS, Spong A, Bartke A, Pawlikowska L, Kwok PY, Masternak MM. 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.
        View in: PubMed PMC2759569
      80. Weinsheimer S, Kim H, Pawlikowska L, Chen Y, Lawton MT, Sidney S, Kwok PY, McCulloch CE, Young WL. EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations. Circ Cardiovasc Genet. 2009 Oct; 2(5):476-82.
        View in: PubMed PMC2939745
      81. 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. 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.
        View in: PubMed PMC2805758
      82. Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW. Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008. Hum Mutat. 2009 Jul; 30(7):1134-8.
        View in: PubMed PMC3873344
      83. 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. Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell. 2009 Aug; 8(4):460-72.
        View in: PubMed PMC3652804
      84. 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. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009 Jun; 41(6):708-11.
        View in: PubMed PMC2803042
      85. 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. Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. Exp Gerontol. 2009 May; 44(5):350-5.
        View in: PubMed PMC2791897
      86. Xiao M, Wan E, Chu C, Hsueh WC, Cao Y, Kwok PY. Direct determination of haplotypes from single DNA molecules. Nat Methods. 2009 Mar; 6(3):199-201.
        View in: PubMed PMC3880790
      87. 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. Importing human pluripotent stem cell lines derived at another institution: tailoring review to ethical concerns. Cell Stem Cell. 2009 Feb 6; 4(2):115-23.
        View in: PubMed
      88. Chen Y, Teranishi K, Li S, Yee SW, Hesselson S, Stryke D, Johns SJ, Ferrin TE, Kwok P, Giacomini KM. Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function. Pharmacogenomics J. 2009 Apr; 9(2):127-36.
        View in: PubMed PMC2949062
      89. 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. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009 Feb; 41(2):199-204.
        View in: PubMed PMC2745122
      90. 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. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet. 2009 Feb; 41(2):211-5.
        View in: PubMed PMC3128734
      91. Tahara H, Yee SW, Urban TJ, Hesselson S, Castro RA, Kawamoto M, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Giacomini KM. 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.
        View in: PubMed PMC2670604
      92. 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. 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.
        View in: PubMed PMC2682268
      93. 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. 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.
        View in: PubMed PMC2649796
      94. Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 2009 Feb 1; 18(3):463-71.
        View in: PubMed PMC2638801
      95. 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. Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. J Invest Dermatol. 2009 Mar; 129(3):629-34.
        View in: PubMed PMC4130997
      96. Kim H, Hysi PG, Pawlikowska L, Choudhry S, González Burchard E, Kwok PY, Sidney S, McCulloch CE, Young WL. Population stratification in a case-control study of brain arteriovenous malformation in Latinos. Neuroepidemiology. 2008; 31(4):224-8.
        View in: PubMed PMC2588487
      97. 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. Differences in allergic sensitization by self-reported race and genetic ancestry. J Allergy Clin Immunol. 2008 Oct; 122(4):820-827.e9.
        View in: PubMed PMC2951327
      98. 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. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet. 2008 Sep; 40(9):1062-4.
        View in: PubMed PMC3897246
      99. Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet. 2008 Apr; 4(4):e1000068.
        View in: PubMed PMC2330071
      100. 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. An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients. J Lipid Res. 2008 Aug; 49(8):1846-54.
        View in: PubMed PMC2444008
      101. 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. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 2008 Mar; 4(3):e1000041.
        View in: PubMed PMC2274885
      102. 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. 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.
        View in: PubMed PMC2743540
      103. Ko NU, Rajendran P, Kim H, Rutkowski M, Pawlikowska L, Kwok PY, Higashida RT, Lawton MT, Smith WS, Zaroff JG, Young WL. Endothelial nitric oxide synthase polymorphism (-786T->C) and increased risk of angiographic vasospasm after aneurysmal subarachnoid hemorrhage. Stroke. 2008 Apr; 39(4):1103-8.
        View in: PubMed PMC2650384
      104. Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY. Natural variation in four human collagen genes across an ethnically diverse population. Genomics. 2008 Apr; 91(4):307-14.
        View in: PubMed PMC2737816
      105. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 Oct 18; 449(7164):913-8.
        View in: PubMed PMC2687721
      106. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61.
        View in: PubMed PMC2689609
      107. Ha C, Kwok PY. The Template-Directed Dye-Incorporation Assay with Fluorescence Polarization Detection (FP-TDI). CSH Protoc. 2007; 2007:pdb.prot4844.
        View in: PubMed
      108. 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. 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.
        View in: PubMed
      109. 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. 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.
        View in: PubMed PMC2362133
      110. Xiao M, Gordon MP, Phong A, Ha C, Chan TF, Cai D, Selvin PR, Kwok PY. Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding. Hum Mutat. 2007 Sep; 28(9):913-21.
        View in: PubMed
      111. Leung JM, Sands LP, Wang Y, Poon A, Kwok PY, Kane JP, Pullinger CR. Apolipoprotein E e4 allele increases the risk of early postoperative delirium in older patients undergoing noncardiac surgery. Anesthesiology. 2007 Sep; 107(3):406-11.
        View in: PubMed
      112. Tingley WG, Pawlikowska L, Zaroff JG, Kim T, Nguyen T, Young SG, Vranizan K, Kwok PY, Whooley MA, Conklin BR. 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.
        View in: PubMed PMC1866184
      113. King CR, Xiao M, Yu J, Minton MR, Addleman NJ, Van Booven DJ, Kwok PY, McLeod HL, Marsh S. Identification of NR1I2 genetic variation using resequencing. Eur J Clin Pharmacol. 2007 Jun; 63(6):547-54.
        View in: PubMed
      114. Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA. Arteriovenous malformation. J Neurosurg. 2007 Apr; 106(4):731-2; author reply 732-3.
        View in: PubMed
      115. Cotton RG. Recommendations of the 2006 Human Variome Project meeting. Nat Genet. 2007 Apr; 39(4):433-6.
        View in: PubMed
      116. 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. Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. Am J Hum Genet. 2007 Apr; 80(4):716-26.
        View in: PubMed PMC1852718
      117. Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis. Nat Genet. 2007 Feb; 39(2):153-5.
        View in: PubMed
      118. Xiao M, Phong A, Ha C, Chan TF, Cai D, Leung L, Wan E, Kistler AL, DeRisi JL, Selvin PR, Kwok PY. Rapid DNA mapping by fluorescent single molecule detection. Nucleic Acids Res. 2007; 35(3):e16.
        View in: PubMed PMC1807959
      119. Mak CH, Poon MW, Lun HM, Kwok PY, Ko RC. Heat-inducible translationally controlled tumor protein of Trichinella pseudospiralis: cloning and regulation of gene expression. Parasitol Res. 2007 Apr; 100(5):1105-11.
        View in: PubMed
      120. Peralta CA, Ziv E, Katz R, Reiner A, Burchard EG, Fried L, Kwok PY, Psaty B, Shlipak M. 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.
        View in: PubMed
      121. Ring HZ, Kwok PY, Cotton RG. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics. 2006 Oct; 7(7):969-72.
        View in: PubMed
      122. Chan TF, Ha C, Phong A, Cai D, Wan E, Leung L, Kwok PY, Xiao M. A simple DNA stretching method for fluorescence imaging of single DNA molecules. Nucleic Acids Res. 2006; 34(17):e113.
        View in: PubMed PMC1635263
      123. Kwok PY. Genome-wide association studies getting more complicated but help is on the way. Hum Genomics. 2006 Jun; 2(6):341-2.
        View in: PubMed PMC3525161
      124. Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL. Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. Stroke. 2006 Jul; 37(7):1680-5.
        View in: PubMed
      125. 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. Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery. 2006 May; 58(5):838-43; discussion 838-43.
        View in: PubMed
      126. Koboldt DC, Miller RD, Kwok PY. Distribution of human SNPs and its effect on high-throughput genotyping. Hum Mutat. 2006 Mar; 27(3):249-54.
        View in: PubMed PMC1861817
      127. Rocha D, Gut I, Jeffreys AJ, Kwok PY, Brookes AJ, Chanock SJ. 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.
        View in: PubMed
      128. Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL. Interleukin-6 involvement in brain arteriovenous malformations. Ann Neurol. 2006 Jan; 59(1):72-80.
        View in: PubMed
      129. 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. 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.
        View in: PubMed
      130. 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. Population stratification confounds genetic association studies among Latinos. Hum Genet. 2006 Jan; 118(5):652-64.
        View in: PubMed
      131. Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY. Polymorphism discovery in 51 chemotherapy pathway genes. Hum Mol Genet. 2005 Dec 1; 14(23):3595-603.
        View in: PubMed
      132. 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. 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.
        View in: PubMed
      133. 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. 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.
        View in: PubMed
      134. 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. Lack of support for the association between GAD2 polymorphisms and severe human obesity. PLoS Biol. 2005 Sep; 3(9):e315.
        View in: PubMed PMC1193520
      135. 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. High-density single-nucleotide polymorphism maps of the human genome. Genomics. 2005 Aug; 86(2):117-26.
        View in: PubMed PMC1885222
      136. 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. Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics. Genet Epidemiol. 2005 Jul; 29(1):76-86.
        View in: PubMed
      137. Reiner AP, Ziv E, Lind DL, Nievergelt CM, Schork NJ, Cummings SR, Phong A, Burchard EG, Harris TB, Psaty BM, Kwok PY. 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.
        View in: PubMed PMC1196398
      138. Xiao M, Kwok PY. Kinetic fluorescence-quenching detection assay for allele frequency estimation. Methods Mol Biol. 2005; 311:115-23.
        View in: PubMed
      139. Zellner C, Pullinger CR, Aouizerat BE, Frost PH, Kwok PY, Malloy MJ, Kane JP. Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors. Hum Mutat. 2005 Jan; 25(1):18-21.
        View in: PubMed
      140. 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. Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens. Genomics. 2004 Dec; 84(6):899-912.
        View in: PubMed
      141. Marsh S, Xiao M, Yu J, Ahluwalia R, Minton M, Freimuth RR, Kwok PY, McLeod HL. Pharmacogenomic assessment of carboxylesterases 1 and 2. Genomics. 2004 Oct; 84(4):661-8.
        View in: PubMed
      142. Pawlikowska L, Tran MN, Achrol AS, McCulloch CE, Ha C, Lind DL, Hashimoto T, Zaroff J, Lawton MT, Marchuk DA, Kwok PY, Young WL. 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.
        View in: PubMed
      143. Xiao M, Phong A, Lum KL, Greene RA, Buzby PR, Kwok PY. Role of excess inorganic pyrophosphate in primer-extension genotyping assays. Genome Res. 2004 Sep; 14(9):1749-55.
        View in: PubMed PMC515321
      144. Kwok PY, Xiao M. Single-molecule analysis for molecular haplotyping. Hum Mutat. 2004 May; 23(5):442-6.
        View in: PubMed PMC1820841
      145. Kwok PY. High-throughput genotyping with primer extension fluorescent polarization detection. Curr Protoc Hum Genet. 2004 Feb; Chapter 2:Unit 2.11.
        View in: PubMed
      146. 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. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet. 2003 Dec; 35(4):349-56.
        View in: PubMed
      147. Westphal V, Xiao M, Kwok PY, Freeze HH. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat. 2003 Nov; 22(5):420-1.
        View in: PubMed
      148. 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. ADAM33 is not associated with asthma in Puerto Rican or Mexican populations. Am J Respir Crit Care Med. 2003 Dec 1; 168(11):1312-6.
        View in: PubMed
      149. Xiao M, Kwok PY. DNA analysis by fluorescence quenching detection. Genome Res. 2003 May; 13(5):932-9.
        View in: PubMed PMC430929
      150. Kwok PY, Chen X. Detection of single nucleotide polymorphisms. Curr Issues Mol Biol. 2003 Apr; 5(2):43-60.
        View in: PubMed
      151. Miller RD, Duan S, Lovins EG, Kloss EF, Kwok PY. Efficient high-throughput resequencing of genomic DNA. Genome Res. 2003 Apr; 13(4):717-20.
        View in: PubMed PMC430165
      152. Kwok PY, Duan S. SNP discovery by direct DNA sequencing. Methods Mol Biol. 2003; 212:71-84.
        View in: PubMed
      153. Hsu TM, Kwok PY. Homogeneous primer extension assay with fluorescence polarization detection. Methods Mol Biol. 2003; 212:177-87.
        View in: PubMed
      154. Kwok PY, Xiao M. SNP genotyping and molecular haplotyping of DNA pools. Cold Spring Harb Symp Quant Biol. 2003; 68:65-7.
        View in: PubMed
      155. Xiao M, Latif SM, Kwok PY. Kinetic FP-TDI assay for SNP allele frequency determination. Biotechniques. 2003 Jan; 34(1):190-7.
        View in: PubMed
      156. 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. Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A. 2003 Jan 7; 100(1):376-81.
        View in: PubMed PMC140982
      157. Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM. 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.
        View in: PubMed
      158. Kwok PY. Making 'random amplification' predictable in whole genome analysis. Trends Biotechnol. 2002 Oct; 20(10):411-2.
        View in: PubMed
      159. Marsh S, Kwok P, McLeod HL. SNP databases and pharmacogenetics: great start, but a long way to go. Hum Mutat. 2002 Sep; 20(3):174-9.
        View in: PubMed
      160. Vieux EF, Kwok PY, Miller RD. Primer design for PCR and sequencing in high-throughput analysis of SNPs. Biotechniques. 2002 Jun; Suppl:28-30, 32.
        View in: PubMed
      161. Kwok PY. SNP genotyping with fluorescence polarization detection. Hum Mutat. 2002 Apr; 19(4):315-23.
        View in: PubMed
      162. Fan JB, Surti U, Taillon-Miller P, Hsie L, Kennedy GC, Hoffner L, Ryder T, Mutch DG, Kwok PY. Paternal origins of complete hydatidiform moles proven by whole genome single-nucleotide polymorphism haplotyping. Genomics. 2002 Jan; 79(1):58-62.
        View in: PubMed
      163. Kwok PY. Genomics. Genetic association by whole-genome analysis? Science. 2001 Nov 23; 294(5547):1669-70.
        View in: PubMed
      164. Miller RD, Kwok PY. The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine. Hum Mol Genet. 2001 Oct 1; 10(20):2195-8.
        View in: PubMed
      165. Hsu TM, Chen X, Duan S, Miller RD, Kwok PY. Universal SNP genotyping assay with fluorescence polarization detection. Biotechniques. 2001 Sep; 31(3):560, 562, 564-8, passim.
        View in: PubMed
      166. Hsu TM, Law SM, Duan S, Neri BP, Kwok PY. Genotyping single-nucleotide polymorphisms by the invader assay with dual-color fluorescence polarization detection. Clin Chem. 2001 Aug; 47(8):1373-7.
        View in: PubMed
      167. Nickerson DA, Ankener W, Delahunty C, Kwok PY. Genotyping by ligation assays. Curr Protoc Hum Genet. 2001 May; Chapter 2:Unit 2.6.
        View in: PubMed
      168. Morton NE, Zhang W, Taillon-Miller P, Ennis S, Kwok PY, Collins A. The optimal measure of allelic association. Proc Natl Acad Sci U S A. 2001 Apr 24; 98(9):5217-21.
        View in: PubMed PMC33190
      169. Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE. Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. Hum Mutat. 2001 Apr; 17(4):255-62.
        View in: PubMed
      170. White PS, Kwok PY, Oefner P, Brookes AJ. 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.
        View in: PubMed
      171. Marth G, Yeh R, Minton M, Donaldson R, Li Q, Duan S, Davenport R, Miller RD, Kwok PY. Single-nucleotide polymorphisms in the public domain: how useful are they? Nat Genet. 2001 Apr; 27(4):371-2.
        View in: PubMed
      172. Latif S, Bauer-Sardina I, Ranade K, Livak KJ, Kwok PY. Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay. Genome Res. 2001 Mar; 11(3):436-40.
        View in: PubMed PMC311069
      173. 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. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001 Feb 15; 409(6822):928-33.
        View in: PubMed
      174. Kwok PY. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet. 2001; 2:235-58.
        View in: PubMed
      175. Kwok PY. Reflections on a DNA mutation scanning tool. Nat Biotechnol. 2001 Jan; 19(1):18-9.
        View in: PubMed
      176. Miller RD, Taillon-Miller P, Kwok PY. Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences. Genomics. 2001 Jan 1; 71(1):78-88.
        View in: PubMed
      177. Taillon-Miller P, Bauer-Sardiña I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet. 2000 Jul; 25(3):324-8.
        View in: PubMed
      178. Taillon-Miller P, Kwok PY. A high-density single-nucleotide polymorphism map of Xq25-q28. Genomics. 2000 May 1; 65(3):195-202.
        View in: PubMed
      179. Kwok PY. Approaches to allele frequency determination. Pharmacogenomics. 2000 May; 1(2):231-5.
        View in: PubMed
      180. Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, Wu JS, Liu KY, Schonfeld G. Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet. 2000 May; 66(5):1699-704.
        View in: PubMed PMC1378026
      181. Ritter D, Taylor JF, Hoffmann JW, Carnaghi L, Giddings SJ, Zakeri H, Kwok PY. Alternative splicing for the alpha1 subunit of soluble guanylate cyclase. Biochem J. 2000 Mar 15; 346 Pt 3:811-6.
        View in: PubMed PMC1220917
      182. Kwok PY. High-throughput genotyping assay approaches. Pharmacogenomics. 2000 Feb; 1(1):95-100.
        View in: PubMed
      183. Kwok PY, Gu Z. Single nucleotide polymorphism libraries: why and how are we building them? Mol Med Today. 1999 Dec; 5(12):538-43.
        View in: PubMed
      184. Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR. A general approach to single-nucleotide polymorphism discovery. Nat Genet. 1999 Dec; 23(4):452-6.
        View in: PubMed
      185. Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet. 1999 Sep; 8(9):1631-6.
        View in: PubMed
      186. Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia. J Lipid Res. 1999 May; 40(5):955-9.
        View in: PubMed
      187. Chen X, Levine L, Kwok PY. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999 May; 9(5):492-8.
        View in: PubMed PMC310763
      188. Taillon-Miller P, Piernot EE, Kwok PY. Efficient approach to unique single-nucleotide polymorphism discovery. Genome Res. 1999 May; 9(5):499-505.
        View in: PubMed PMC310784
      189. Chen X, Kwok PY. Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection. Genet Anal. 1999 Feb; 14(5-6):157-63.
        View in: PubMed
      190. Kwok PY. Genotyping by mass spectrometry takes flight. Nat Biotechnol. 1998 Dec; 16(13):1314-5.
        View in: PubMed
      191. Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G. 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.
        View in: PubMed
      192. Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY. Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing. Biotechniques. 1998 Sep; 25(3):406-10, 412-4.
        View in: PubMed
      193. Landegren U, Nilsson M, Kwok PY. Reading bits of genetic information: methods for single-nucleotide polymorphism analysis. Genome Res. 1998 Aug; 8(8):769-76.
        View in: PubMed
      194. Taillon-Miller P, Gu Z, Li Q, Hillier L, Kwok PY. Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. Genome Res. 1998 Jul; 8(7):748-54.
        View in: PubMed PMC310751
      195. Chen X, Livak KJ, Kwok PY. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 1998 May; 8(5):549-56.
        View in: PubMed PMC310725
      196. Pulai JI, Latour MA, Kwok PY, Schonfeld G. Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). Atherosclerosis. 1998 Feb; 136(2):289-95.
        View in: PubMed
      197. Kwok PY, Chen X. Detection of single nucleotide variations. Genet Eng (N Y). 1998; 20:125-34.
        View in: PubMed
      198. Gu Z, Hillier L, Kwok PY. Single nucleotide polymorphism hunting in cyberspace. Hum Mutat. 1998; 12(4):221-5.
        View in: PubMed
      199. Taillon-Miller P, Bauer-Sardiña I, Zakeri H, Hillier L, Mutch DG, Kwok PY. The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics. 1997 Dec 1; 46(2):307-10.
        View in: PubMed
      200. Chen X, Zehnbauer B, Gnirke A, Kwok PY. Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc Natl Acad Sci U S A. 1997 Sep 30; 94(20):10756-61.
        View in: PubMed PMC23476
      201. Chen X, Kwok PY. 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.
        View in: PubMed PMC146426
      202. Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA. AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. Biotechniques. 1996 Oct; 21(4):694-9.
        View in: PubMed
      203. Kwok PY, Deng Q, Zakeri H, Taylor SL, Nickerson DA. Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. Genomics. 1996 Jan 1; 31(1):123-6.
        View in: PubMed
      204. Parker LT, Deng Q, Zakeri H, Carlson C, Nickerson DA, Kwok PY. Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry. Biotechniques. 1995 Jul; 19(1):116-21.
        View in: PubMed
      205. Gnirke A, Iadonato SP, Kwok PY, Olson MV. Physical calibration of yeast artificial chromosome contig maps by RecA-assisted restriction endonuclease (RARE) cleavage. Genomics. 1994 Nov 15; 24(2):199-210.
        View in: PubMed
      206. Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics. 1994 Sep 1; 23(1):138-44.
        View in: PubMed
      207. Kwok PY, Gremaud MF, Nickerson DA, Hood L, Olson MV. Automatable screening of yeast artificial-chromosome libraries based on the oligonucleotide-ligation assay. Genomics. 1992 Aug; 13(4):935-41.
        View in: PubMed
      208. Naiberg JB, Robinson A, Kwok P, Hawke M. Swirls, wrinkles and the whole ball of wax (the source of keratin in cerumen). J Otolaryngol. 1992 Apr; 21(2):142-8.
        View in: PubMed
      209. Tocci MJ, Matkovich DA, Collier KA, Kwok P, Dumont F, Lin S, Degudicibus S, Siekierka JJ, Chin J, Hutchinson NI. The immunosuppressant FK506 selectively inhibits expression of early T cell activation genes. J Immunol. 1989 Jul 15; 143(2):718-26.
        View in: PubMed
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