Incumbent Director

Pui-Yan Kwok, M.D., Ph.D.

Distinguished Research Fellow and Director

 

郭沛恩

 

 

1. Education and Positions:

  • University of Chicago, Chicago, IL (1974-1975)
  • B.A.(1977-1979), M.S.(1979-1981), Ph.D.(1979-1985), University of Chicago, Chicago, IL
  • M.D., Pritzker School of Medicine, University of Chicago (1979-1987)
  • Intern, Rush Medical Center, Chicago, IL (1987-1988)
  • Resident (1988-1990), Chief Resident (1990-1991), Fellow (1990-1992), Washington University Medical Ctr., St. Louis, MO
  • Visiting Scientist, University of Washington, Seattle, WA (1992-1993)
  • Assistant Professor (1993-1999), Associate Professor (1999-2002), Washington University School of Medicine
  • Professor (2002-present), Henry Bachrach Distinguished Professor (2002-present), Investigator (2002-present), University of California, San Francisco

 

2. Honors and Awards:

  • Institute of International Education Direct Placement Scholarship, Hong Kong (1974)    
  • Phi Beta Kappa, University of Chicago (1979)    
  • Medical Alumni Prize for an Outstanding Oral Presentation of Research Performed During Medical School, Pritzker School of Medicine, University of Chicago (1987)    
  • Merck/American Federation for Clinical Research Foundation M.D., Ph.D. Postdoctoral Fellowship Award (1992)  
  • Henry Christian Award for Excellence in Research, Clinical Research Meeting (1993)    
  • Siu Lien Ling Wong Visiting Fellow, Chung Chi College, Chinese University of Hong Kong (2004)    
  • Visiting Distinguished Professor, Physician Scientist Training Program, UC-Davis (2004)    
  • Elected Active Member of the American Dermatological Association (2008)  

 

3. Specialty:

  • Human Genetics
  • Genomics
  • DNA sequence Variation
  • Complex Trait Analysis
  • Pharmacogenetics
  • Biotechnology

 

4. Selected Publications:

  1. Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, and Kwok PY. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly. Nat Biotechnol. 2012; 30:771-6.
  2. 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 1; 71(10):1228-36. PMID: 25111166.
  3. 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. PMID: 25894502.
  4. 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.
  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. PMID: 26092718.
  6. Mostovoy Y, Levy-Sakin M, Lam J, Lam ET, Hastie AR, Marks P, Lee J, Chu C, Lin C, Dzakula Z, 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.
  7. 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, Dzakula Z, 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.
  8. HoffmannTJ, Ehret GB, Nandakumar P, Ranatunga D, Schaefer C, Kwok PY, Iribarren C, Chakravarti A, Risch N. Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Nat Genet. 2017 Jan; 49(1):54-64. PMID: 27841878
  9. Hoffmann TJ, Passarelli MN, Graff RE, Emami NC, Sakoda LC, Jorgenson E, Habel LA, Shan J, Ranatunga DK, Quesenberry CP, Chao CR, Ghai NR, Aaronson D, Presti J, Nordström T, Wang Z, Berndt SI, Chanock SJ, Mosley JD, Klein RJ, Middha M, Lilja H, Melander O, Kvale MN, Kwok PY, Schaefer C, Risch N, Van Den Eeden SK, Witte JS. Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. Nat Commun. 2017 Jan 31;8:14248. PMID: 28139693