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



Dermatology Clinic
1701 Divisadero St., Third and Fourth Floors
San Francisco, CA 94115
Phone: (415) 353–7800
Fax: (415) 353–7870

Hours: Monday to Friday, 8 a.m. – 5 p.m.

Conditions & Treatments

More about Pui-Yan Kwok

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University of Chicago Pritzker School of Medicine 1987


Washington University (Barnes-Jewish Hospital) 1991

Selected Research and Publications

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions to their publications by logging on to UCSF Profiles.