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Full List of Publications: Dr. Kwok's PubMed Link

2018
Levin AM, Gui H, Hernandez-Pacheco N, Yang M, Xiao S, Yang JJ, Hochstadt S, Barczak AJ, Eckalbar WL, Rynkowski D, Samedy LA, Kwok PY, Pino-Yanes M, Erle DJ, Lanfear DE, Burchard EG, Williams LK. Integrative approach identifies corticosteroid response variant in diverse populations with asthma. J Allergy Clin Immunol. 2018 Oct 24.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 Sep 6.
Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, Müller-Nurasyid M, Moes A, Meitinger T, Mak A, Huikuri H, Junttila MJ, Goyette P, Pulit SL, Pazoki R, Tanck MW, Blom MT, Zhao X, Havulinna AS, Jabbari R, Glinge C, Tragante V, Escher SA, Chakravarti A, Ehret G, Coresh J, Li M, Prineas RJ, Franco OH, Kwok PY, Lumley T, Dumas F, McKnight B, Rotter JI, Lemaitre RN, Heckbert SR, O'Donnell CJ, Hwang SJ, Tardif JC, VanDenburgh M, Uitterlinden AG, Hofman A, Stricker BHC, de Bakker PIW, Franks PW, Jansson JH, Asselbergs FW, Halushka MK, Maleszewski JJ, Tfelt-Hansen J, Engstrøm T, Salomaa V, Virmani R, Kolodgie F, Wilde AAM, Tan HL, Bezzina CR, Eijgelsheim M, Rioux JD, Jouven X, Kääb S, Psaty BM, Siscovick DS, Arking DE, Sotoodehnia N; SCD working group of the CHARGE Consortium. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018 Aug 28.
Wong KHY, Levy-Sakin M, Kwok PY. De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. Nat Commun. 2018 Aug 2.
Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 Jun 15.
Hoffmann TJ, Theusch E, Haldar T, Ranatunga DK, Jorgenson E, Medina MW, Kvale MN, Kwok PY, Schaefer C, Krauss RM, Iribarren C, Risch N. A large electronic-health-record-based genome-wide study of serum lipids. Nat Genet. 2018 Mar 5.
Yu Z, Tang PL, Wang J, Bao S, Shieh JT, Leung AW, Zhang Z, Gao F, Wong SY, Hui AL, Gao Y, Dung N, Zhang ZG, Fan Y, Zhou X, Zhang Y, Wong DS, Sham PC, Azhar A, Kwok PY, Tam PP, Lian Q, Cheah KS, Wang B, Song YQ. Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 Jan 25.
Wang J, Gao S, Mostovoy Y, Kang Y, Zagoskin M, Sun Y, Zhang B, White LK, Easton A, Nutman TB, Kwok PY, Hu S, Nielsen MK, Davis RE. Comparative genome analysis of programmed DNA elimination in nematodes. Genome Res. 2017 Dec.
Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification. Hum Mutat. 2018 Jan.
2017
Li L, Leung AK, Kwok TP, Lai YYY, Pang IK, Chung GT, Mak ACY, Poon A, Chu C, Li M, Wu JJK, Lam ET, Cao H, Lin C, Sibert J, Yiu SM, Xiao M, Lo KW, Kwok PY, Chan TF, Yip KY. OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps. Genome Biol. 2017 Dec 1.
Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct.
Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. Am J Ophthalmol Case Rep. 2017 Jun 21.
Young E, Pastor S, Rajagopalan R, McCaffrey J, Sibert J, Mak ACY, Kwok PY, Riethman H, Xiao M. High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres. Nucleic Acids Res. 2017 May 19.
Roberts JD, Gollob MH, Young C, Connors SP, Gray C, Wilton SB, Green MS, Zhu DW, Hodgkinson KA, Poon A, Li Q, Orr N, Tang AS, Klein GJ, Wojciak J, Campagna J, Olgin JE, Badhwar N, Vedantham V, Marcus GM, Kwok PY, Deo RC, Scheinman MM. Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia. JACC Clin Electrophysiol. 2017 Mar.
Leung AK, Kwok TP, Wan R, Xiao M, Kwok PY, Yip KY, Chan TF. OMBlast: alignment tool for optical mapping using a seed-and-extend approach. Bioinformatics. 2017 Feb 1.
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.
Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb.
Hoffmann TJ, 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.
Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. Ophthalmic Genet. 2017 Jul-Aug.
2016
Roberts JD, Yang J, Gladstone RA, Longoria J, Whitman IR, Dewland TA, Miller C, Robles A, Poon A, Seiler B, Laframboise WA, Olgin JE, Kwok PY, Marcus GM. Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes. J Cardiovasc Electrophysiol. 2016 Nov.
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 Mar 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.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016
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; DeKAF Investigators. Genomewide Association Study of Tacrolimus Concentrations in African American Kidney Transplant Recipients Identifies Multiple CYP3A5 Alleles. Am J Transplant. 2016 Feb.
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.
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. Nature Methods. 2016 May 9.
Mak AC, Tang PL, Cleveland C, Smith MH, Connolly MK, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA. Whole Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis. Arthritis & Rheumatology. 2016 Apr 1.
Ullah E, Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R et al. Genetic analysis of consanguineous families presenting with congenital ocular defects. Experimental Eye Research. 2016 May 31;146:163-71.
Refaat MM, Tang P, Harfouch N, Wojciak J, Kwok PY, Scheinman MM. Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. Cardiac Electrophysiology Clinics. 2016 Jan 16.
Mak AC, Lai YY, Lam ET, Kwok TP, Leung AK, Poon A, Mostovoy Y, Hastie AR, Stedman W, Anantharaman T, Andrews W. Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. Genetics. 2016 Jan 1;202(1):351-62.
2015
Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, Stütz AM, Stedman W, Anantharaman T, Hastie A, Dai H. Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nature Methods. 2015 Jun 29.
Banda Y, Kvale MN, Hoffmann TJ, Hesselson SE, Ranatunga D, Tang H, Sabatti C, Croen LA, Dispensa BP, Henderson M, Iribarren C. 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 1;200(4):1285-95.
Kvale MN, Hesselson S, Hoffmann TJ, Cao Y, Chan D, Connell S, Croen LA, Dispensa BP, Eshragh J, Finn A, Gollub J. Genotyping informatics and quality control for 100,000 subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug 1;200(4):1051-60.
Lapham K, Kvale MN, Lin J, Connell S, Croen LA, Dispensa BP, Fang L, Hesselson S, Hoffmann TJ, Iribarren C, Jorgenson E et al. 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 1;200(4):1061-72.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics. 2015 Jun 1;47(6):654-60.
Choi A, Lao R, Tang PL, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. European Journal of Human Genetics. 2015 Mar 1;23(3):337-41.
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 et al. DLX4 is associated with orofacial clefting and abnormal jaw development. Human Molecular Genetics. 2015 May 7:ddv167.
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.
Tranah GJ, Yaffe K, Katzman SM, Lam ET, Pawlikowska L, Kwok PY, Schork NJ, Manini TM, Kritchevsky S, Thomas F, Newman AB et al. Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults. The Journals of Gerontology Series A: Biological Sciences and Medical Sciences. 2015 Aug 31:glv097.
Zou J, Tran D, Baalbaki M, Tang LF, Poon A, Pelonero A, Titus EW, Yuan C, Shi C, Patchava S, Halper E et al. An internal promoter underlies the difference in disease severity between N-and C-terminal truncation mutations of Titin in zebrafish. eLife. 2015 Dec 1;4:e09406.
2014
Mak AC, Pullinger CR, Tang LF, Wong JS, Deo RC, Schwarz JM, Gugliucci A, Movsesyan I, Ishida BY, Chu C, Poon A et al. Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function. JAMA Neurology. 2014 Oct 1;71(10):1228-36.
O’Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY et al. Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. BMC Genomics. 2014 May 20;15(1):1e
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 Research. 2014 Nov 1;24(11):1734-9.
Kaiser R, Tang LF, Taylor KE, Sterba K, Nititham J, Brown EE, Edberg JC, McGwin G, Alarcón GS, Ramsey‐Goldman R, Reveille JD et al. A Polymorphism in TLR2 Is Associated With Arterial Thrombosis in a Multiethnic Population of Patients With Systemic Lupus Erythematosus. Arthritis & Rheumatology. 2014 Jul 1;66(7):1882-7.
Roberts JD, Longoria J, Poon A, Gollob MH, Dewland TA, Kwok PY, Olgin JE, Deo RC, Marcus GM. Targeted deep sequencing reveals no evidence for somatic mosaicism in atrial fibrillation. Circulation: Cardiovascular Genetics. 2014 Nov 18:CIRCGENETICS-114.
Hariani GD, 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 Research Notes. 2014 Jun 12;7(1):360.
Lemaitre RN, Johnson CO, Hesselson S, Sotoodhenia N, McKnight B, Sitlani CM, Rea TD, King IB, Kwok PY, Mak A, Li G et al. Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. Heart Rhythm. 2014 Mar 31;11(3):471-7.
Deo RC, Musso G, Tasan M, Tang P, Poon A, Yuan C, Felix JF, Vasan RS, Beroukhim R, De Marco T, Kwok PY et al. Prioritizing causal disease genes using unbiased genomic features. Genome Biology. 2014 Dec 1;15(12):1-9.
Hackett CS, Quigley DA, Wong RA, Chen J, Cheng C, Song YK, Wei JS, Pawlikowska L, Bao Y, Goldenberg DD, Nguyen K et al. Expression Quantitative Trait Loci and Receptor Pharmacology Implicate Arg1 and the GABA-A Receptor as Therapeutic Targets in Neuroblastoma. Cell Reports. 2014 Nov 6;9(3):1034-46.
Ge X, Kwok PY, Shieh JT. Prioritizing genes for X-linked diseases using population exome data. Human Molecular Genetics. 2014 Sep 12:ddu473.
Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC et al. Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: Replication and functional characterization of non-coding regions. PloS ONE. 2014 May 12;9(5):e96805.
2013
Hastie AR, Dong L, Smith A, Finklestein J, Lam ET, Huo N, Cao H, Kwok PY, Deal KR, Dvorak J, Luo MC et al. Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome. PloS ONE. 2013 Feb 6;8(2):e55864.
Bergen AW, Javitz HS, Krasnow R, Nishita D, Michel M, Conti DV, Liu J, Lee W, Edlund CK, Hall S, Kwok PY et al. Nicotinic acetylcholine receptor variation and response to smoking cessation therapies. Pharmacogenetics and Genomics. 2013 Feb;23(2):94.
Levin AM, Mathias RA, Huang L, Roth LA, Daley D, Myers RA, Himes BE, Romieu I, Yang M, Eng C, Park JE et al. A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations. Journal of Allergy and Clinical Immunology. 2013 Apr 30;131(4):1176-84.
Tamraz B, Fukushima H, Wolfe AR, Kaspera R, Totah RA, Floyd JS, Ma B, Chu C, Marciante KD, Heckbert SR, Psaty BM et al. OATP1B1-related drug–drug and drug–gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis. Pharmacogenetics and Genomics. 2013 Jul;23(7):355.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Human Molecular Genetics. 2013 Feb 15;22(4):696-703.
Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF et al. Copy number variation analysis in 98 individuals with PHACE syndrome. Journal of Investigative Dermatology. 2013 Mar 1;133(3):677-84.
Bendjilali N, Kim H, Weinsheimer S, Guo DE, Kwok PY, Zaroff JG, Sidney S, Lawton MT, McCulloch CE, Koeleman BP, Klijn CJ et al. A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. PloS ONE. 2013 Oct 3;8(10):e71434.
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. Human Mutation. 2013 Apr 1;34(4):657-60.
2012
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. Epublished on Nov 10, 2012.
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. Epublished on Oct 25, 2012.
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. Epublished on Sep 20, 2012.
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.
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; 5:422-9.
Baday M, Cravens A, Hastie A, Kim H, Kudeki DE, Kwok PY, Xiao M, Selvin PR. Multicolor Super-Resolution DNA Imaging for Genetic Analysis. Clin Pharmacol Ther. 2012; 12:3861-6.
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; 91:896-904.
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. For the Health, Aging and Body Composition Study. Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly. Biochim Biophys Acta. 2012; 1817:1691.
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; 72:686.
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; 33:582.
2011
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.
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; 108:17761-6.
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 RT, 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; 1:137-143.
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; 90:674-84.
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; 98:422-30.
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.
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, Kaufman J, Lao RZ, Lu Y, Ludwig D, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Ranatunga D, Rowell S, Sadlerc M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Walter L, Wan E, Wearly R, Webster T, Wen CC, Weng L, 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; 98:79-89.
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:e19454.
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; 19:2394-403.
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; 48:375-82.
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; 21:280-288.
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; 89:571-8.
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; 12:176-82.
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; 31:338-45.
Kornum BR, Kawashima M, Faraco J, Lin L, Rico T, Hesselson S, Axtell RC, Kuipers H, Weiner K, Kassack MU, Knudsen S, Han F, Winkelmann J, Plazzi G, Nevsimalova S, Hong S-C, Honda Y, Honda M, Hogl B, Ton TGN, Montplaisir J, Bourgin P, Kemlink D, Einen M, Musone SL, Miyagawa T, Duan J, Desautels A, Ruppert E, Hesla PE, Poli F, Frauscher B, Jeong J-H, Lee S-P, Longstreth Jr WT, Kvale M, Dobrovolna M, Ohayon M, Nepom GT, Wichmann H-E, Rouleau GA, Gieger C, Levinson DF, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok P-Y, Risch N, Hallmayer J, and Mignot, E. The P2RY11 receptor is associated with narcolepsy. Nat Genet. 2011; 43:66-71.
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; 131:1105-9.
2010
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; 130:2768-72.
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:e13048.
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; 20:619-29.
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; 177:555-62.
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; 31:886-8.
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:e10565.
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; 464:1351-6.
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; 95:2885-91.
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; 6:16-20.
Scherer ML, Nalls MA, Pawlikowska L, Ziv E, Mitchell GF, 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 TB. Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease. J Med Genet. 2010; 47:1-7.
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; 176:1018-27.
2009
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; 6:1745-50.
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; 2:476-82.
Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, A Castro R, 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; 19:770-80.
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; 124:1099-105.
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; 34:1574-81.
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. 2009; 12:135-142.
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:e6942.
Hu D, Pawlikowska L., Kanaya A, Hsueh W-C, Colbert L, Newman A, Satterfield S, Rosen C, Cummings S, Harris TB, Ziv E. Serum IGF-1 binding proteins 1 and 2 and mortality in older adults: the Health, Aging, and Body Composition Study. J Am Geriatr Soc. 2009; 57:1213-8.
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; 64A:1126-1133.
Pawlikowska L, Hu D, Huntsman S, Sung A, Chu C, Chen J, Joyner A, Schork NJ, Hsueh W-C, Reiner AP, Psaty BM, Atzmon G, Barzilai N, Cummings SR, Browner WS, Kwok PY and Ziv E for the Study of Osteoporotic Fractures. Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell 2009; 8:460-72.
Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT Jr, 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. Nature Genet. 2009; 41:708-11.
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; 30:1134-8.
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 and Reiner AP. Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. Exp Geront. 2009; 44:350-5.
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; 9:127-36.
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). Pharmacol Exp Ther. 2009; 329:262-71.
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; 4:115-23.
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; 18:463-471. PubMed abstract
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; 129:629-634 PubMed abstract
Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, LaFond RJ, Kawamoto M, Johns SJ, Stryke D, Gray JW, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. Identification and characterization of proximal promoter polymorphisms in the human nucleoside transporter CNT2 (SLC28A2). J Pharm Exp Ther. 2009; 328:699-707. PubMed abstract
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-kB pathways. Nature Genet. 2009; 41:199-204. PubMed abstract
de Cid R, Riveira-Munoz E, Zeeuwen PLJM, 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 JAL, Kwok PY, Bowcock A, Schalkwijk J, Estivill X. Deletion of the late cornified envelope (LCE) 3B and 3C genes as a susceptibility factor for psoriasis. Nature Genet. 2009; 41:211-215. PubMed abstract
Xiao M, Wan E, Chu C, Cao Y, Hsueh WC, Kwok PY. Direct determination of haplotypes from single DNA molecules. Nature Meth. 2009; 6:199-201.
Selected earlier publications
Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, Ortmann W, Shifrin N, Petri MA, Ilyas Kamboh M, 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. Nature Genet. 2008; 4:e1000068.
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; 4:e1000068.
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; 4:e1000041.
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; 97:307-314.
Sabeti PC, et al. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007; 449:913-918.
International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007; 449:851-861.
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. Human Mutation. 2007; 28:913-921.
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, Waliszewska1, 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 soluble IL6 receptor and IL6 levels. Am. J. Hum. Genet. 2007; 80:716-726.
Xiao, M, Phong, A, Ha, C, Chan, TF, Cai, D, Wan, E, Leung, L, Kistle, A, DeRisi, JL, Selvin, P, Kwok, P-Y. Rapid DNA Mapping by fluorescent single molecule detection. Nucleic Acids Res. 2007; 35:e16.
The International HapMap Consortium, A haplotype map of the human genome. Nature. 2005; 437:1299-1320.
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, and Kwok, P-Y. High-Density Single Nucleotide Polymorphism Maps of the Human Genome. Genomics. 2005; 86:117-126.
Reiner, AP, Ziv, E, Lind, DL, Nievergelt, CM, Schork NJ, Cummings, SR, Phong, A, Burchard, E, Harris, TB, Psaty, BM, and Kwok, P-Y. Population structure, admixture, and aging-related phenotypes in African-American adults: the Cardiovascular Health Study. Genomics. 2005; 76:463-477.
The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Review Genetics. 2004; 5:467-475.
The International HapMap Consortium. The International HapMap Project. Nature. 2003; 426:789-796.
Helms, C, Cao, L, Krueger, JG, Wijsman, EM, Chamian, F, Gordon, D, Daw, J, Robarge, J, Ott, J, Kwok, P-Y, Menter, A, and Bowcock, AM. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with psoriasis susceptibility. Nature Genetics. 2003; 35:349-456.
Xiao, M and Kwok, P-Y: DNA analysis by fluorescence quenching detection. Genome Research 2003; 35:349-456.
Xiao, M, Latif, SM, and Kwok, P-Y: Kinetic FP-TDI assay for SNP allele frequency determination. BioTechniques 2003; 34:190-197.
Marth, G, Schuler, G, Yeh, RG, 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, H, Kwok, PY, and Sherry, ST. Sequence variations in the public human genome data reflect a bottlenecked population history. Proc. Natl. Acad. Sci. USA 2003; 100:376-381.
Fan, J-B, Surti, U, Taillon-Miller, P, Hsie, L, Kennedy, GC, Hoffner, L, Ryder, T, Mutch, DG, and Kwok, P-Y. Paternal origins of complete hydatidiform moles proven by whole genome SNP haplotyping. Genomics 2002; 79:58-62.
Hsu, TM, Chen, X, Duan, S, Miller, R, and Kwok, P-Y: A universal SNP genotyping assay with fluorescence polarization detection. BioTechniques 2001; 31:560-570.
Hsu, TM, Law, SM, Duan, S, Neri, BP, Kwok, P-Y: Genotyping single nucleotide polymorphisms by the Invader assay with dual-color fluorescence polarization detection. Clin. Chem. 2001; 47:1373-1377.
Morton, NE, Zhang, W, Taillon-Miller, P, Ennis, S, Kwok, P-Y, Collins, A: The optimal measure of allelic association. Proc. Natl. Acad. Sci. USA. 2001; 98:5217-5221.
Marth, G, Yeh, R, Minton, M, Donaldson, R, Li, Q, Duan, S, Davenport, R, Miller, RD, and Kwok, P-Y: Single nucleotide polymorphisms in the public database: how useful are they? Nature Genetics. 2001; 27:371-372.
Latif, S, Bauer-Sardiña, I, Ranade, K, Livak, K and Kwok, P-Y: Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay. Genome Res. 2001; 11:436-440.
The International SNP Map Working Group: A map of human genome sequence variation containing 1.4 million SNPs. Nature 2001; 409:928-933.
Taillon-Miller, P, Bauer-Sardiña, I, Saccone, NL, Putzel, J, Laitinen, T, Kere, J, Pilia, G, Rice, JP and Kwok, P-Y: Juxtaposed Regions of Extensive and Minimal Linkage Disequilibrium in Human Xq25 and Xq28. Nature Genet. 2000; 25:324 -328.
Marth, GT, Korf, I, Yandell, MD, Yeh, RT, Gu, Z, Zakeri, H, Stitziel, NO, Hillier, L, Kwok, P-Y, Gish, WR: A general approach to single-nucleotide polymorphism discovery. Nature Genet. 1999; 23:452-456.
Jacobsen, NJ, Lyons, I, Hoogendoorn, B, Burge, S, Kwok, P-Y, O'Donovan, MC, Craddock, N, Owen, MJ: ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum. Mol. Genet. 1999; 8:1631-1636.
Taillon-Miller, P, Piernot, EE, and Kwok, P-Y: Efficient approach to unique single nucleotide polymorphism discovery. Genome Res. 1999; 9:499-505.
Chen, X, Levine, L, and Kwok, P-Y: Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 1999; 9:492-498.
Taillon-Miller, P, Gu, Z, Li, Q, Hillier, L, and Kwok, P-Y: Overlapping genomic sequences: a treasure trove of single nucleotide polymorphisms. Genome Res. 1998; 8:748-754.
Chen, X, Livak, K, and Kwok, P-Y: A homogeneous, ligase-mediated DNA diagnostic test. Genome Res. 1998; 8:549-556.
Taillon-Miller, P, Bauer-Sardiña, I, Zakeri, H, Hillier, L, Mutch, DG, and Kwok, P-Y: The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics 1997; 46:307-310.
Chen, X, Zehnbauer, B, Gnirke, A and Kwok, P-Y: Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc. Natl. Acad. Sci. USA 1997; 94:10756-10761.
Chen, X and Kwok, P-Y: Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence energy transfer. Nucleic Acids Res. 1997; 25:347-353.