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    Pui-Yan Kwok, MD, PhD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentCardiovascular Research Inst
    Address555 Mission Bay Blvd South
    San Francisco CA 94158
    Phone415-514-3802
    vCardDownload vCard

      Collapse Biography 
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      University of ChicagoM.D.Pritzker School of Medicine1987

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      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.
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      1. 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. In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants. Epidemiology. 2016 Sep; 27(5):656-62. PMID: 27153462.
        View in: PubMed
      2. 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. A hybrid approach for de novo human genome sequence assembly and phasing. Nat Methods. 2016 Jul; 13(7):587-90. PMID: 27159086.
        View in: PubMed
      3. 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. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 May; 146:163-71. PMID: 26995144.
        View in: PubMed
      4. Lemaitre RN, Bartz TM, King IB, Brody JA, McKnight B, Sotoodehnia N, Rea TD, Johnson CO, Mozaffarian D, Hesselson S, Kwok PY, Siscovick DS. Circulating n-3 fatty acids and trans-fatty acids, PLA2G2A gene variation and sudden cardiac arrest. J Nutr Sci. 2016; 5:e12. PMID: 27313848.
        View in: PubMed
      5. Refaat MM, Tang P, Harfouch N, Wojciak J, Kwok PY, Scheinman M. Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. Card Electrophysiol Clin. 2016 Mar; 8(1):217-21. PMID: 26920198.
        View in: PubMed
      6. 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. Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. Genetics. 2016 Jan; 202(1):351-62. PMID: 26510793.
        View in: PubMed
      7. 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. 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. PMID: 26485092.
        View in: PubMed
      8. 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. An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish. Elife. 2015; 4. PMID: 26473617.
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      9. 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. Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults. PLoS Genet. 2015 Oct; 11(10):e1005573. PMID: 26451733; PMCID: PMC4599806.
      10. 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. PMID: 26328603; PMCID: PMC4612388 [Available on 11/01/16].
      11. 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. PMID: 26160899; PMCID: PMC4550968 [Available on 08/15/16].
      12. 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. Cohort Profile: The Jerusalem Perinatal Family Follow-Up Study. Int J Epidemiol. 2016 Apr; 45(2):343-52. PMID: 26163255.
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      13. 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. PMID: 26121404.
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      14. 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. PMID: 26092716; PMCID: PMC4574246 [Available on 08/01/16].
      15. 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. PMID: 26092718; PMCID: PMC4574249 [Available on 08/01/16].
      16. 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. PMID: 26092717; PMCID: PMC4574243 [Available on 08/01/16].
      17. 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. PMID: 26034056; PMCID: PMC4527942 [Available on 02/01/16].
      18. 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. PMID: 25954033; PMCID: PMC4492397 [Available on 08/01/16].
      19. 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. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60. PMID: 25894502; PMCID: PMC4513663 [Available on 12/01/15].
      20. 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. PMID: 25637275; PMCID: PMC4390477.
      21. 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. PMID: 25457163; PMCID: PMC4452457 [Available on 11/01/16].
      22. 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. PMID: 25633252; PMCID: PMC4279789.
      23. 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. PMID: 25406240; PMCID: PMC4334693 [Available on 02/01/16].
      24. 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. PMID: 25437558; PMCID: PMC4251494.
      25. 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. PMID: 25304867; PMCID: PMC4216915.
      26. 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. PMID: 25111166.
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      27. 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. PMID: 25217573; PMCID: PMC4291241 [Available on 02/01/16].
      28. 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. PMID: 25143296; PMCID: PMC4296186 [Available on 12/01/15].
      29. 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. PMID: 24578102; PMCID: PMC4269184.
      30. 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. PMID: 24939590; PMCID: PMC4326713 [Available on 03/01/16].
      31. 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. PMID: 24924344; PMCID: PMC4068968.
      32. 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. PMID: 24885025; PMCID: PMC4053653.
      33. 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. PMID: 24820477; PMCID: PMC4018404.
      34. 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. PMID: 24670385; PMCID: PMC3966761.
      35. 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. PMID: 24444611; PMCID: PMC4271021 [Available on 12/01/15].
      36. 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. PMID: 24418963; PMCID: PMC4098013.
      37. 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. PMID: 24418166; PMCID: PMC3966996.
      38. 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. PMID: 24124160; PMCID: PMC3968220.
      39. 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. PMID: 24135825.
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      40. 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. PMID: 24098321; PMCID: PMC3789669.
      41. 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. PMID: 24002087; PMCID: PMC3784764.
      42. 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. PMID: 23652407; PMCID: PMC3894639.
      43. 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. PMID: 23315969; PMCID: PMC3606662.
      44. 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. PMID: 23405223; PMCID: PMC3566107.
      45. 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. PMID: 23249876; PMCID: PMC3563676.
      46. 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. PMID: 23161670; PMCID: PMC3554199.
      47. 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. PMID: 23146381; PMCID: PMC3596497.
      48. 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. PMID: 23096700; PMCID: PMC3971866.
      49. 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. PMID: 22994654; PMCID: PMC3513582.
      50. 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. PMID: 22797562; PMCID: PMC3817024.
      51. 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. PMID: 22698062; PMCID: PMC3880789.
      52. 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. PMID: 22661490; PMCID: PMC3422654.
      53. 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. PMID: 22659402; PMCID: PMC3389152.
      54. 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. PMID: 22419147; PMCID: PMC3830936.
      55. 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. PMID: 22170622; PMCID: PMC3867005.
      56. 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. PMID: 22185198; PMCID: PMC3274454.
      57. 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. PMID: 22174369; PMCID: PMC3271167.
      58. 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. PMID: 22006338; PMCID: PMC3203814.
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      180. 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. PMID: 11309498; PMCID: PMC33190.
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      185. 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. PMID: 11237013.
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      186. Kwok PY. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet. 2001; 2:235-58. PMID: 11701650.
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      187. Kwok PY. Reflections on a DNA mutation scanning tool. Nat Biotechnol. 2001 Jan; 19(1):18-9. PMID: 11135543.
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      188. 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. PMID: 11161800.
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      189. 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. PMID: 10888883.
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      190. Taillon-Miller P, Kwok PY. A high-density single-nucleotide polymorphism map of Xq25-q28. Genomics. 2000 May 1; 65(3):195-202. PMID: 10857743.
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      191. Kwok PY. Approaches to allele frequency determination. Pharmacogenomics. 2000 May; 1(2):231-5. PMID: 11256594.
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      192. Kwok PY. 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. PMID: 10794738.
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      193. 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. PMID: 10762553; PMCID: PMC1378026.
      194. 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. PMID: 10698711; PMCID: PMC1220917.
      195. Kwok PY. High-throughput genotyping assay approaches. Pharmacogenomics. 2000 Feb; 1(1):95-100. PMID: 11258600.
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      196. Kwok PY, Gu Z. Single nucleotide polymorphism libraries: why and how are we building them? Mol Med Today. 1999 Dec; 5(12):538-43. PMID: 10562720.
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      197. 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. PMID: 10581034.
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      198. 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. PMID: 10441325.
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      199. Miller SE, Taillon-Miller P, Kwok PY. Cost-effective staining of DNA with SYBR green in preparative agarose gel electrophoresis. Biotechniques. 1999 Jul; 27(1):34-6. PMID: 10407658.
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      200. 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. PMID: 10224165.
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      201. Chen X, Levine L, Kwok PY. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999 May; 9(5):492-8. PMID: 10330129; PMCID: PMC310763.
      202. Taillon-Miller P, Piernot EE, Kwok PY. Efficient approach to unique single-nucleotide polymorphism discovery. Genome Res. 1999 May; 9(5):499-505. PMID: 10330130; PMCID: PMC310784.
      203. 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. PMID: 10084108.
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      204. Kwok PY. Genotyping by mass spectrometry takes flight. Nat Biotechnol. 1998 Dec; 16(13):1314-5. PMID: 9853606.
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      205. 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. PMID: 9843041.
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      206. 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. PMID: 9762437.
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      207. 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. PMID: 9724323.
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      208. 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. PMID: 9685323; PMCID: PMC310751.
      209. Chen X, Livak KJ, Kwok PY. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 1998 May; 8(5):549-56. PMID: 9582198; PMCID: PMC310725.
      210. 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. PMID: 9543100.
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      211. Kwok PY, Chen X. Detection of single nucleotide variations. Genet Eng (N Y). 1998; 20:125-34. PMID: 9666557.
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      212. Gu Z, Hillier L, Kwok PY. Single nucleotide polymorphism hunting in cyberspace. Hum Mutat. 1998; 12(4):221-5. PMID: 9744471.
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      213. 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. PMID: 9417922.
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      214. 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. PMID: 9380706; PMCID: PMC23476.
      215. 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. PMID: 9016564; PMCID: PMC146426.
      216. 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. PMID: 8891223.
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      217. 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. PMID: 8808290.
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      218. 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. PMID: 7669285.
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      219. 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. PMID: 7698741.
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      220. 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. PMID: 7829062.
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      221. Frank JA, Mattay VS, Duyn J, Sobering G, Barrios FA, Zigun J, Sexton R, Kwok P, Woo J, Moonen C. 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. PMID: 7928216.
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      222. 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. PMID: 1505984.
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      223. 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. PMID: 1374803.
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      224. Bingham B, Wang RG, Hawke M, Kwok P. The embryonic development of the lateral nasal wall from 8 to 24 weeks. Laryngoscope. 1991 Sep; 101(9):992-7. PMID: 1886449.
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      225. Wang RG, Bingham B, Hawke M, Kwok P, Li JR. Persistence of the foramen of Huschke in the adult: an osteological study. J Otolaryngol. 1991 Aug; 20(4):251-3. PMID: 1920577.
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      226. 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. PMID: 2472451.
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      227. Wang RG, Kwok P, Hawke M. The embryonic development of the human paraseptal cartilage. J Otolaryngol. 1988 Jun; 17(4):150-4. PMID: 3398102.
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      228. Hawke M, Kwok P, Shankar L, Wang RG. Spontaneous temporomandibular joint fistula into the external auditory canal. J Otolaryngol. 1988 Feb; 17(1):29-31. PMID: 3343717.
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      229. Hawke M, Kwok P, Mehta M, Wang RG. Bilateral spontaneous temporomandibular joint herniation into the external auditory canal. J Otolaryngol. 1987 Dec; 16(6):387-9. PMID: 3694748.
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      230. Wang RG, Hawke M, Kwok P. The epidermoid formation (Michaels' structure) in the developing middle ear. J Otolaryngol. 1987 Dec; 16(6):327-30. PMID: 2447287.
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      231. Leung A, Kwok P, Chang A. Association between prostaglandin E2 and placental abruption. Br J Obstet Gynaecol. 1987 Oct; 94(10):1001-2. PMID: 3479999.
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