Pui-Yan Kwok, MD, PhD
Professor Emeritus
Cardiovascular Research Inst
School of Medicine

Education & Training

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• Diversity, Equity, and Inclusion Champion Training University of California 2019
• Residency Dermatology Washington University School of Medicine 1991
• M.D. Pritzker School of Medicine University of Chicago 1987
• Ph.D. Chemistry University of Chicago 1985

Websites

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• Profile at UCSF Biomedical Sciences (bms.ucsf.edu)

Grants and Projects

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• Resource-based Center for the Advancement of Precision Medicine in Rheumatology, NIH, 2016-2026
• UCSF Dermatology Training Grant, NIH, 1976-2024
• High throughput single molecule approaches for phased genome sequence assembly, NIH, 2010-2022
• Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population., NIH, 2017-2022
• Next Generation Mapping of Complex Genomic Regions involved in Recurrent Structural Variations, NIH, 2016-2021
• Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening, NIH, 2013-2019
• High throughput single molecule approaches for phased genome sequence assembly, NIH, 2010-2018
• Genomics for Transplantation: Discovery and Biomarkers, NIH, 2004-2016
• Int'l Meetings on Human Genome Variation & Complex Genome Analysis, NIH, 2005-2016
• Pharmacogenomics of Membrane Transporters, NIH, 2000-2015
• Functional Polymorphism Analysis in Drug Pathways, NIH, 2001-2010
• Dermatology Training Grant, NIH, 1978-2010
• Molecular Haplotyping By Single Molecule Detection, NIH, 1997-2009
• 6th International Single Nucleotide Polymorphism (SNP), NIH, 2003-2004
• New Methods for High Throughput Genome Analysis, NIH, 1998-2002
• Method for Global and Targeted Discovery of Snp Markers, NIH, 1999-2002
• High Density Genetic Map of Xq25-Xq28, NIH, 1996-2000

Publications (288)

Top publication keywords:
Genetic VariationPolymorphism, GeneticHaplotypesGenomic Structural VariationGene FrequencyGenotypeSequence Analysis, DNAChromosome MappingPopulationPolymorphism, Single NucleotidePolymerase Chain ReactionFluorescence PolarizationDNAGenomicsGenome, Human

• Highly efficient capture approach for the identification of diverse inherited retinal disorders.
  NPJ genomic medicine 2024 Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu CC, Hwang DK, Tsai HY, Peng ML, Lee SH, Chau SF, Chen CY, Cheang WM, Chen SJ, Kwok PY, Chiou SH, Lu …
• Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
  NPJ genomic medicine 2024 Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N
• Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…
• Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.
  Nature communications 2023 Tsai HH, Kao HJ, Kuo MW, Lin CH, Chang CM, Chen YY, Chen HH, Kwok PY, Yu AL, Yu J
• Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.
  Neurology. Genetics 2023 Hsueh HW, Kao HJ, Chao CC, Hsueh SJ, Huang YN, Lin WJ, Su JP, Shy HT, Yeh TY, Lin CC, Kwok PY, Lee NC, Hsieh ST

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• South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.
  Nature communications 2023 Wall JD, Sathirapongsasuti JF, Gupta R, Rasheed A, Venkatesan R, Belsare S, Menon R, Phalke S, Mittal A, Fang J, Tanneeru D, Deshmukh M, Bassi A, Robinson J, Chaudhary R, Murugan S, Ul-Asar Z, Saleem …
• Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…
• Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
  medRxiv : the preprint server for health sciences 2023 Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N
• High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
  Genome medicine 2023 Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG
• Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
  Journal of lipid research 2022 Dong W, Wong KHY, Liu Y, Levy-Sakin M, Hung WC, Li M, Li B, Jin SC, Choi J, Lopez-Giraldez F, Vaka D, Poon A, Chu C, Lao R, Balamir M, Movsesyan I, Malloy MJ, Zhao H, Kwok PY, Kane JP, Lifton RP, …
• Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D,…
• Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.
  Blood 2021 Park J, Daniels J, Wartewig T, Ringbloom KG, Martinez-Escala ME, Choi S, Thomas JJ, Doukas PG, Yang J, Snowden C, Law C, Lee Y, Lee K, Zhang Y, Conran C, Tegtmeyer K, Mo SH, Pease DR, Jothishankar B, …
• Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D,…
• Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
  Molecular psychiatry 2021 Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, …
• Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population.
  Translational psychiatry 2021 Wu LS, Huang MC, Fann CS, Lane HY, Kuo CJ, Chiu WC, Kwok PY, Cheng AT
• Genomic Variation and Recent Population Histories of Spotted (Strix occidentalis) and Barred (Strix varia) Owls.
  Genome biology and evolution 2021 Fujito NT, Hanna ZR, Levy-Sakin M, Bowie RCK, Kwok PY, Dumbacher JP, Wall JD
• Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
  American journal of medical genetics. Part A 2021 Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-…
• Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
  NPJ genomic medicine 2021 Wei CY, Yang JH, Yeh EC, Tsai MF, Kao HJ, Lo CZ, Chang LP, Lin WJ, Hsieh FJ, Belsare S, Bhaskar A, Su MW, Lee TC, Lin YL, Liu FT, Shen CY, Li LH, Chen CH, Wall JD, Wu JY, Kwok PY
• Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
  Genetics 2021 Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH
• Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
  Molecular psychiatry 2021 Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, …
• A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility.
  Cancer research 2020 Emami NC, Cavazos TB, Rashkin SR, Cario CL, Graff RE, Tai CG, Mefford JA, Kachuri L, Wan E, Wong S, Aaronson D, Presti J, Habel LA, Shan J, Ranatunga DK, Chao CR, Ghai NR, Jorgenson E, Sakoda LC, …
• Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.
  GigaScience 2020 Batra SS, Levy-Sakin M, Robinson J, Guillory J, Durinck S, Vilgalys TP, Kwok PY, Cox LA, Seshagiri S, Song YS, Wall JD
• Towards a reference genome that captures global genetic diversity.
  Nature communications 2020 Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok …
• Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.
  Current biology : CB 2020 Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptácek LJ, Fu YH
• The role of exome sequencing in newborn screening for inborn errors of metabolism.
  Nature medicine 2020 Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou …
• De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.
  Human mutation 2020 Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC
• Analysis of putative cis-regulatory elements regulating blood pressure variation.
  Human molecular genetics 2020 Nandakumar P, Lee D, Hoffmann TJ, Ehret GB, Arking D, Ranatunga D, Li M, Grove ML, Boerwinkle E, Schaefer C, Kwok PY, Iribarren C, Risch N, Chakravarti A
• Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
  International journal of neonatal screening 2020 Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R
• Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.
  PLoS genetics 2020 Young E, Abid HZ, Kwok PY, Riethman H, Xiao M
• The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.
  Genetics 2019 Heft IE, Mostovoy Y, Levy-Sakin M, Ma W, Stevens AJ, Pastor S, McCaffrey J, Boffelli D, Martin DI, Xiao M, Kennedy MA, Kwok PY, Sikela JM
• Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.
  Science translational medicine 2019 Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptácek LJ, Fu YH
• Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
  Molecular genetics & genomic medicine 2019 Wong KHY, Levy-Sakin M, Ma W, Gonzaludo N, Mak ACY, Vaka D, Poon A, Chu C, Lao R, Balamir M, Grenville Z, Wong N, Kane JP, Kwok PY, Malloy MJ, Pullinger CR
• Targeted Genomic Profiling of Acral Melanoma.
  Journal of the National Cancer Institute 2019 Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM
• The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
  Genome research 2019 Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, …
• Evaluating the quality of the 1000 genomes project data.
  BMC genomics 2019 Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, Peterson AS, Kwok PY, Seshagiri S, Wall JD
• Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards.
  Nature ecology & evolution 2019 Lind AL, Lai YYY, Mostovoy Y, Holloway AK, Iannucci A, Mak ACY, Fondi M, Orlandini V, Eckalbar WL, Milan M, Rovatsos M, Kichigin IG, Makunin AI, Johnson Pokorná M, Altmanová M, Trifonov VA, Schijlen E…
• OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps.
  GigaScience 2019 Leung AK, Liu MC, Li L, Lai YY, Chu C, Kwok PY, Ho PL, Yip KY, Chan TF
• Multi-platform discovery of haplotype-resolved structural variation in human genomes.
  Nature communications 2019 Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, …
• Genome maps across 26 human populations reveal population-specific patterns of structural variation.
  Nature communications 2019 Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang …
• A comprehensive evaluation of the genetic architecture of sudden cardiac arrest.
  European heart journal 2018 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…
• Integrative approach identifies corticosteroid response variant in diverse populations with asthma.
  The Journal of allergy and clinical immunology 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
• The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
  American journal of human genetics 2018 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, …
• De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations.
  Nature communications 2018 Wong KHY, Levy-Sakin M, Kwok PY
• Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.
  American journal of respiratory and critical care medicine 2018 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…
• A large electronic-health-record-based genome-wide study of serum lipids.
  Nature genetics 2018 Hoffmann TJ, Theusch E, Haldar T, Ranatunga DK, Jorgenson E, Medina MW, Kvale MN, Kwok PY, Schaefer C, Krauss RM, Iribarren C, Risch N
• Mutations in Hnrnpa1 cause congenital heart defects.
  JCI insight 2018 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…
• OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.
  Genome biology 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
• Comparative genome analysis of programmed DNA elimination in nematodes.
  Genome research 2017 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
• Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
  Human mutation 2017 Bassaganyas L, Freedman G, Vaka D, Wan E, Lao R, Chen F, Kvale M, Currier RJ, Puck JM, Kwok PY
• Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
  European journal of medical genetics 2017 Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M
• A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
  American journal of ophthalmology case reports 2017 Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A
• High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.
  Nucleic acids research 2017 Young E, Pastor S, Rajagopalan R, McCaffrey J, Sibert J, Mak ACY, Kwok PY, Riethman H, Xiao M
• OMBlast: alignment tool for optical mapping using a seed-and-extend approach.
  Bioinformatics (Oxford, England) 2017 Leung AK, Kwok TP, Wan R, Xiao M, Kwok PY, Yip KY, Chan TF
• Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.
  Nature communications 2017 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 …
• Newborn Sequencing in Genomic Medicine and Public Health.
  Pediatrics 2017 Berg JS, Agrawal PB, Bailey DB, 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…
• Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.
  JACC. Clinical electrophysiology 2016 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 …
• Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
  Nature genetics 2016 Hoffmann TJ, Ehret GB, Nandakumar P, Ranatunga D, Schaefer C, Kwok PY, Iribarren C, Chakravarti A, Risch N
• Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
  NPJ genomic medicine 2016 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
• Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
  Ophthalmic genetics 2016 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
• Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes.
  Journal of cardiovascular electrophysiology 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
• Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.
  Arthritis & rheumatology (Hoboken, N.J.) 2016 Mak AC, Tang PL, Cleveland C, Smith MH, Kari Connolly M, Katsumoto TR, Wolters PJ, Kwok PY, Criswell LA
• In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants.
  Epidemiology (Cambridge, Mass.) 2016 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
• A hybrid approach for de novo human genome sequence assembly and phasing.
  Nature methods 2016 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
• Genetic analysis of consanguineous families presenting with congenital ocular defects.
  Experimental eye research 2016 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
• Circulating n-3 fatty acids and trans-fatty acids, PLA2G2A gene variation and sudden cardiac arrest.
  Journal of nutritional science 2016 Lemaitre RN, Bartz TM, King IB, Brody JA, McKnight B, Sotoodehnia N, Rea TD, Johnson CO, Mozaffarian D, Hesselson S, Kwok PY, Siscovick DS
• Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.
  Cardiac electrophysiology clinics 2016 Refaat MM, Tang P, Harfouch N, Wojciak J, Kwok PY, Scheinman M
• Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
  Genetics 2015 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, …
• Genomewide Association Study of Tacrolimus Concentrations in African American Kidney Transplant Recipients Identifies Multiple CYP3A5 Alleles.
  American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2015 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
• An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish.
  eLife 2015 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…
• Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.
  PLoS genetics 2015 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,…
• Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.
  The journals of gerontology. Series A, Biological sciences and medical sciences 2015 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, …
• Cohort Profile: The Jerusalem Perinatal Family Follow-Up Study.
  International journal of epidemiology 2015 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
• Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway.
  Development (Cambridge, England) 2015 Hu J, Verzi MP, Robinson AS, Tang PL, Hua LL, Xu SM, Kwok PY, Black BL
• Assembly and diploid architecture of an individual human genome via single-molecule technologies.
  Nature methods 2015 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…
• 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 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…
• Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
  Genetics 2015 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, …
• Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
  Genetics 2015 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, …
• A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.
  Cancer discovery 2015 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, …
• DLX4 is associated with orofacial clefting and abnormal jaw development.
  Human molecular genetics 2015 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
• COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
  Nature genetics 2015 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 …
• The genetics of splicing in neuroblastoma.
  Cancer discovery 2015 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
• Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
  Clinical genetics 2015 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, …
• Prioritizing causal disease genes using unbiased genomic features.
  Genome biology 2014 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
• Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation.
  Circulation. Cardiovascular genetics 2014 Roberts JD, Longoria J, Poon A, Gollob MH, Dewland TA, Kwok PY, Olgin JE, Deo RC, Marcus GM
• Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma.
  Cell reports 2014 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, …
• Estimating genotype error rates from high-coverage next-generation sequence data.
  Genome research 2014 Wall JD, Tang LF, Zerbe B, Kvale MN, Kwok PY, Schaefer C, Risch N
• Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function.
  JAMA neurology 2014 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, …
• Prioritizing genes for X-linked diseases using population exome data.
  Human molecular genetics 2014 Ge X, Kwok PY, Shieh JT
• Organic cation transporter variation and response to smoking cessation therapies.
  Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2014 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
• A polymorphism in TLR2 is associated with arterial thrombosis in a multiethnic population of patients with systemic lupus erythematosus.
  Arthritis & rheumatology (Hoboken, N.J.) 2014 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, …
• Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
  European journal of human genetics : EJHG 2014 Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
• Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics.
  BMC research notes 2014 Hariani GD, Lam ET, Lam EJ, Havener T, Kwok PY, McLeod HL, Wagner MJ, Motsinger-Reif AA
• Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.
  BMC genomics 2014 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
• Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.
  PloS one 2014 Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C
• Maternal genetic variation accounts in part for the associations of maternal size during pregnancy with offspring cardiometabolic risk in adulthood.
  PloS one 2014 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
• Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population.
  The journals of gerontology. Series A, Biological sciences and medical sciences 2014 Bendjilali N, Hsueh WC, He Q, Willcox DC, Nievergelt CM, Donlon TA, Kwok PY, Suzuki M, Willcox BJ
• Gene-based association identifies SPATA13-AS1 as a pharmacogenomic predictor of inhaled short-acting beta-agonist response in multiple population groups.
  The pharmacogenomics journal 2014 Padhukasahasram B, Yang JJ, Levin AM, Yang M, Burchard EG, Kumar R, Kwok PY, Seibold MA, Lanfear DE, Williams LK
• Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest.
  Heart rhythm 2014 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…
• Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI.
  Obesity (Silver Spring, Md.) 2013 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
• [NiTiBOND an optimized self-crimping stapes prosthesis for treatment of otosclerosis].
  Laryngo- rhino- otologie 2013 Huber AM, Hornung J, Plontke S, Röösli C, Iro H, Strutz J, Rahne T, Pezier TF, Kwok P
• A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
  PloS one 2013 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 rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation.
  Translational psychiatry 2013 Martin PM, Yang X, Robin N, Lam E, Rabinowitz JS, Erdman CA, Quinn J, Weiss LA, Hamilton SP, Kwok PY, Moon RT, Cheyette BN
• OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis.
  Pharmacogenetics and genomics 2013 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
• HGV2012: leveraging next-generation technology and large datasets to advance disease research.
  Human mutation 2013 Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ
• Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome.
  PloS one 2013 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
• Nicotinic acetylcholine receptor variation and response to smoking cessation therapies.
  Pharmacogenetics and genomics 2013 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
• Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
  Human molecular genetics 2012 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…
• A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.
  The Journal of allergy and clinical immunology 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,…
• Copy number variation analysis in 98 individuals with PHACE syndrome.
  The Journal of investigative dermatology 2012 Siegel DH, Shieh JTC, 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, …
• Beta-adrenergic receptor polymorphisms and cardiac graft function in potential organ donors.
  American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 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
• Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly.
  Nature biotechnology 2012 Lam ET, Hastie A, Lin C, Ehrlich D, Das SK, Austin MD, Deshpande P, Cao H, Nagarajan N, Xiao M, Kwok PY
• Multicolor super-resolution DNA imaging for genetic analysis.
  Nano letters 2012 Baday M, Cravens A, Hastie A, Kim H, Kudeki DE, Kwok PY, Xiao M, Selvin PR
• Common variation in fatty acid genes and resuscitation from sudden cardiac arrest.
  Circulation. Cardiovascular genetics 2012 Johnson CO, Lemaitre RN, Fahrenbruch CE, Hesselson S, Sotoodehnia N, McKnight B, Rice KM, Kwok PY, Siscovick DS, Rea TD
• Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly.
  Biochimica et biophysica acta 2012 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, Health, Aging and …
• A screening study of drug-drug interactions in cerivastatin users: an adverse effect of clopidogrel.
  Clinical pharmacology and therapeutics 2012 Floyd JS, Kaspera R, Marciante KD, Weiss NS, Heckbert SR, Lumley T, Wiggins KL, Tamraz B, Kwok PY, Totah RA, Psaty BM
• HGV2011: personalized genomic medicine meets the incidentalome.
  Human mutation 2012 Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY
• Association analysis identifies ZNF750 regulatory variants in psoriasis.
  BMC medical genetics 2011 Birnbaum RY, Hayashi G, Cohen I, Poon A, Chen H, Lam ET, Kwok PY, Birk OS, Liao W
• Mitochondrial DNA sequence variation and risk of pancreatic cancer.
  Cancer research 2011 Lam ET, Bracci PM, Holly EA, Chu C, Poon A, Wan E, White K, Kwok PY, Pawlikowska L, Tranah GJ
• Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
  Proceedings of the National Academy of Sciences of the United States of America 2011 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,…
• A common 5'-UTR variant in MATE2-K is associated with poor response to metformin.
  Clinical pharmacology and therapeutics 2011 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 …
• 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 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 …
• Temporal dissection of tumorigenesis in primary cancers.
  Cancer discovery 2011 Durinck S, Ho C, Wang NJ, Liao W, Jakkula LR, Collisson EA, Pons J, Chan SW, Lam ET, Chu C, Park K, Hong SW, Hur JS, Huh N, Neuhaus IM, Yu SS, Grekin RC, Mauro TM, Cleaver JE, Kwok PY, LeBoit PE, Getz…
• GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
  BMC cardiovascular disorders 2011 Aouizerat BE, Vittinghoff E, Musone SL, Pawlikowska L, Kwok PY, Olgin JE, Tseng ZH
• Cerivastatin, genetic variants, and the risk of rhabdomyolysis.
  Pharmacogenetics and genomics 2011 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,…
• Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.
  Genomics 2011 Hoffmann TJ, Kvale MN, Hesselson SE, Zhan Y, Aquino C, Cao Y, Cawley S, Chung E, Connell S, Eshragh J, Ewing M, Gollub J, Henderson M, Hubbell E, Iribarren C, Kaufman J, Lao RZ, Lu Y, Ludwig D, …
• A genetic risk score combining ten psoriasis risk loci improves disease prediction.
  PloS one 2011 Chen H, Poon A, Yeung C, Helms C, Pons J, Bowcock AM, Kwok PY, Liao W
• Replication and extension of association between common genetic variants in SIM1 and human adiposity.
  Obesity (Silver Spring, Md.) 2011 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
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
  Journal of medical genetics 2011 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, …
• Functional characterization of liver enhancers that regulate drug-associated transporters.
  Clinical pharmacology and therapeutics 2011 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
• Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.
  Genes and immunity 2011 Musone SL, Taylor KE, Nititham J, Chu C, Poon A, Liao W, Lam ET, Ma A, Kwok PY, Criswell LA
• Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.
  Cerebrovascular diseases (Basel, Switzerland) 2011 Mikhak B, Weinsheimer S, Pawlikowska L, Poon A, Kwok PY, Lawton MT, Chen Y, Zaroff JG, Sidney S, McCulloch CE, Young WL, Kim H
• Common variants in P2RY11 are associated with narcolepsy.
  Nature genetics 2010 Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, …
• Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.
  The Journal of investigative dermatology 2010 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, …
• Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis.
  Pharmacogenetics and genomics 2010 Kaspera R, Naraharisetti SB, Tamraz B, Sahele T, Cheesman MJ, Kwok PY, Marciante K, Heckbert SR, Psaty BM, Totah RA
• A common variant in the telomerase RNA component is associated with short telomere length.
  PloS one 2010 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
• Carriers of rare missense variants in IFIH1 are protected from psoriasis.
  The Journal of investigative dermatology 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
• The DNA damage-binding protein XPC is a frequent target for inactivation in squamous cell carcinomas.
  The American journal of pathology 2010 de Feraudy S, Ridd K, Richards LM, Kwok PY, Revet I, Oh D, Feeney L, Cleaver JE
• HGV2009 meeting: bigger and better studies provide more answers and more questions.
  Human mutation 2010 Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ
• A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
  PloS one 2010 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…
• Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.
  Nature 2010 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, …
• Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study.
  The Journal of clinical endocrinology and metabolism 2010 Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA
• Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning.
  Cell stem cell 2010 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
• Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis.
  The American journal of pathology 2009 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
• Green technologies for room temperature nucleic acid storage.
  Current issues in molecular biology 2009 Wan E, Akana M, Pons J, Chen J, Musone S, Kwok PY, Liao W
• Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.
  Pharmacogenetics and genomics 2009 Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM
• Glucocorticoid receptor gene and depression in patients with coronary heart disease: the Heart and Soul Study-2009 Curt Richter Award Winner.
  Psychoneuroendocrinology 2009 Otte C, Wüst S, Zhao S, Pawlikowska L, Kwok PY, Whooley MA
• Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.
  The Journal of allergy and clinical immunology 2009 Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH
• Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation.
  PloS one 2009 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, …
• Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease.
  Heart rhythm 2009 Tseng ZH, Vittinghoff E, Musone SL, Lin F, Whiteman D, Pawlikowska L, Kwok PY, Olgin JE, Aouizerat BE
• 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?
  The journals of gerontology. Series A, Biological sciences and medical sciences 2009 Panici JA, Wang F, Bonkowski MS, Spong A, Bartke A, Pawlikowska L, Kwok PY, Masternak MM
• EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.
  Circulation. Cardiovascular genetics 2009 Weinsheimer S, Kim H, Pawlikowska L, Chen Y, Lawton MT, Sidney S, Kwok PY, McCulloch CE, Young WL
• Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease.
  Journal of medical genetics 2009 Scherer ML, Nalls MA, Pawlikowska L, Ziv E, Mitchell G, Huntsman S, Hu D, Sutton-Tyrrell K, Lakatta EG, Hsueh WC, Newman AB, Tandon A, Kim L, Kwok PY, Sung A, Li R, Psaty B, Reiner AP, Harris T
• Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.
  Human mutation 2009 Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW
• Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity.
  Aging cell 2009 Pawlikowska L, Hu D, Huntsman S, Sung A, Chu C, Chen J, Joyner AH, Schork NJ, Hsueh WC, Reiner AP, Psaty BM, Atzmon G, Barzilai N, Cummings SR, Browner WS, Kwok PY, Ziv E, Study of Osteoporotic …
• Narcolepsy is strongly associated with the T-cell receptor alpha locus.
  Nature genetics 2009 Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT, Montplaisir J, Kemlink D, …
• Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.
  Experimental gerontology 2009 Walston JD, Matteini AM, Nievergelt C, Lange LA, Fallin DM, Barzilai N, Ziv E, Pawlikowska L, Kwok P, Cummings SR, Kooperberg C, LaCroix A, Tracy RP, Atzmon G, Lange EM, Reiner AP
• Direct determination of haplotypes from single DNA molecules.
  Nature methods 2009 Xiao M, Wan E, Chu C, Hsueh WC, Cao Y, Kwok PY
• Importing human pluripotent stem cell lines derived at another institution: tailoring review to ethical concerns.
  Cell stem cell 2009 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
• Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function.
  The pharmacogenomics journal 2009 Chen Y, Teranishi K, Li S, Yee SW, Hesselson S, Stryke D, Johns SJ, Ferrin TE, Kwok P, Giacomini KM
• Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
  Nature genetics 2009 de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler…
• Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
  Nature genetics 2009 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, …
• Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).
  The Journal of pharmacology and experimental therapeutics 2009 Tahara H, Yee SW, Urban TJ, Hesselson S, Castro RA, Kawamoto M, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Giacomini KM
• Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).
  The Journal of pharmacology and experimental therapeutics 2008 Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM
• Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation.
  Cerebrovascular diseases (Basel, Switzerland) 2008 Kim H, Hysi PG, Pawlikowska L, Poon A, Burchard EG, Zaroff JG, Sidney S, Ko NU, Achrol AS, Lawton MT, McCulloch CE, Kwok PY, Young WL
• Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
  Human molecular genetics 2008 Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE
• Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.
  The Journal of investigative dermatology 2008 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
• Population stratification in a case-control study of brain arteriovenous malformation in Latinos.
  Neuroepidemiology 2008 Kim H, Hysi PG, Pawlikowska L, Choudhry S, González Burchard E, Kwok PY, Sidney S, McCulloch CE, Young WL
• Differences in allergic sensitization by self-reported race and genetic ancestry.
  The Journal of allergy and clinical immunology 2008 Yang JJ, Burchard EG, Choudhry S, Johnson CC, Ownby DR, Favro D, Chen J, Akana M, Ha C, Kwok PY, Krajenta R, Havstad SL, Joseph CL, Seibold MA, Shriver MD, Williams LK
• Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.
  Nature genetics 2008 Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, Ortmann W, Shifrin N, Petri MA, Kamboh MI, Manzi S, Seldin MF, Gregersen PK, Behrens TW, Ma A, Kwok PY, Criswell LA
• An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.
  Journal of lipid research 2008 Pullinger CR, Aouizerat BE, Movsesyan I, Durlach V, Sijbrands EJ, Nakajima K, Poon A, Dallinga-Thie GM, Hattori H, Green LL, Kwok PY, Havel RJ, Frost PH, Malloy MJ, Kane JP
• SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
  PLoS genetics 2008 Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ
• A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
  PLoS genetics 2008 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
• Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease.
  Heart rhythm 2008 Tseng ZH, Aouizerat BE, Pawlikowska L, Vittinghoff E, Lin F, Whiteman D, Poon A, Herrington D, Howard TD, Varosy PD, Hulley SB, Malloy M, Kane J, Kwok PY, Olgin JE
• Endothelial nitric oxide synthase polymorphism (-786T->C) and increased risk of angiographic vasospasm after aneurysmal subarachnoid hemorrhage.
  Stroke 2008 Ko NU, Rajendran P, Kim H, Rutkowski M, Pawlikowska L, Kwok PY, Higashida RT, Lawton MT, Smith WS, Zaroff JG, Young WL
• Natural variation in four human collagen genes across an ethnically diverse population.
  Genomics 2008 Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY
• A second generation human haplotype map of over 3.1 million SNPs.
  Nature 2007 International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, …
• Genome-wide detection and characterization of positive selection in human populations.
  Nature 2007 Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, …
• Association of tumor necrosis factor-alpha-238G>A and apolipoprotein E2 polymorphisms with intracranial hemorrhage after brain arteriovenous malformation treatment.
  Neurosurgery 2007 Achrol AS, Kim H, Pawlikowska L, Trudy Poon KY, McCulloch CE, Ko NU, Johnston SC, McDermott MW, Zaroff JG, Lawton MT, Kwok PY, Young WL
• The Template-Directed Dye-Incorporation Assay with Fluorescence Polarization Detection (FP-TDI).
  CSH protocols 2007 Ha C, Kwok PY
• Common variants in the CRP gene in relation to longevity and cause-specific mortality in older adults: the Cardiovascular Health Study.
  Atherosclerosis 2007 Hindorff LA, Rice KM, Lange LA, Diehr P, Halder I, Walston J, Kwok P, Ziv E, Nievergelt C, Cummings SR, Newman AB, Tracy RP, Psaty BM, Reiner AP
• Apolipoprotein E e4 allele increases the risk of early postoperative delirium in older patients undergoing noncardiac surgery.
  Anesthesiology 2007 Leung JM, Sands LP, Wang Y, Poon A, Kwok PY, Kane JP, Pullinger CR
• Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.
  Human mutation 2007 Xiao M, Gordon MP, Phong A, Ha C, Chan TF, Cai D, Selvin PR, Kwok PY
• Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation.
  Proceedings of the National Academy of Sciences of the United States of America 2007 Tingley WG, Pawlikowska L, Zaroff JG, Kim T, Nguyen T, Young SG, Vranizan K, Kwok PY, Whooley MA, Conklin BR
• Identification of NR1I2 genetic variation using resequencing.
  European journal of clinical pharmacology 2007 King CR, Xiao M, Yu J, Minton MR, Addleman NJ, Van Booven DJ, Kwok PY, McLeod HL, Marsh S
• Arteriovenous malformation.
  Journal of neurosurgery 2007 Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA
• Recommendations of the 2006 Human Variome Project meeting.
  Nature genetics 2007 Cotton RG, 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, …
• Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels.
  American journal of human genetics 2007 Reich D, Patterson N, Ramesh V, De Jager PL, McDonald GJ, Tandon A, Choy E, Hu D, Tamraz B, Pawlikowska L, Wassel-Fyr C, Huntsman S, Waliszewska A, Rossin E, Li R, Garcia M, Reiner A, Ferrell R, …
• Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis.
  Nature genetics 2007 Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ
• Rapid DNA mapping by fluorescent single molecule detection.
  Nucleic acids research 2006 Xiao M, Phong A, Ha C, Chan TF, Cai D, Leung L, Wan E, Kistler AL, DeRisi JL, Selvin PR, Kwok PY
• Heat-inducible translationally controlled tumor protein of Trichinella pseudospiralis: cloning and regulation of gene expression.
  Parasitology research 2006 Mak CH, Poon MW, Lun HM, Kwok PY, Ko RC
• African ancestry, socioeconomic status, and kidney function in elderly African Americans: a genetic admixture analysis.
  Journal of the American Society of Nephrology : JASN 2006 Peralta CA, Ziv E, Katz R, Reiner A, Burchard EG, Fried L, Kwok PY, Psaty B, Shlipak M
• Human Variome Project: an international collaboration to catalogue human genetic variation.
  Pharmacogenomics 2006 Ring HZ, Kwok PY, Cotton RG
• A simple DNA stretching method for fluorescence imaging of single DNA molecules.
  Nucleic acids research 2006 Chan TF, Ha C, Phong A, Cai D, Wan E, Leung L, Kwok PY, Xiao M
• Genome-wide association studies getting more complicated but help is on the way.
  Human genomics 2006 Kwok PY
• Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage.
  Stroke 2006 Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL
• Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations.
  Neurosurgery 2006 Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL
• Distribution of human SNPs and its effect on high-throughput genotyping.
  Human mutation 2006 Koboldt DC, Miller RD, Kwok PY
• Seventh international meeting on single nucleotide polymorphism and complex genome analysis: 'ever bigger scans and an increasingly variable genome'.
  Human genetics 2006 Rocha D, Gut I, Jeffreys AJ, Kwok PY, Brookes AJ, Chanock SJ
• Interleukin-6 involvement in brain arteriovenous malformations.
  Annals of neurology 2006 Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL
• Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations.
  Stroke 2005 Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project
• Population stratification confounds genetic association studies among Latinos.
  Human genetics 2005 Choudhry S, Coyle NE, Tang H, Salari K, Lind D, Clark SL, Tsai HJ, Naqvi M, Phong A, Ung N, Matallana H, Avila PC, Casal J, Torres A, Nazario S, Castro R, Battle NC, Perez-Stable EJ, Kwok PY, Sheppard…
• Polymorphism discovery in 51 chemotherapy pathway genes.
  Human molecular genetics 2005 Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY
• Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR.
  Human genetics 2005 Helms C, Saccone NL, Cao L, Daw JA, Cao K, Hsu TM, Taillon-Miller P, Duan S, Gordon D, Pierce B, Ott J, Rice J, Fernandez-Vina MA, Kwok PY, Menter A, Bowcock AM
• Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
  Stroke 2005 Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project
• Lack of support for the association between GAD2 polymorphisms and severe human obesity.
  PLoS biology 2005 Swarbrick MM, Waldenmaier B, Pennacchio LA, Lind DL, Cavazos MM, Geller F, Merriman R, Ustaszewska A, Malloy M, Scherag A, Hsueh WC, Rief W, Mauvais-Jarvis F, Pullinger CR, Kane JP, Dent R, McPherson …
• High-density single-nucleotide polymorphism maps of the human genome.
  Genomics 2005 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, …
• Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics.
  Genetic epidemiology 2005 Salari K, Choudhry S, Tang H, Naqvi M, Lind D, Avila PC, Coyle NE, Ung N, Nazario S, Casal J, Torres-Palacios A, Clark S, Phong A, Gomez I, Matallana H, Pérez-Stable EJ, Shriver MD, Kwok PY, Sheppard …
• Extract signal out of noise.
  Human genomics 2005 Kwok PY
• Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.
  American journal of human genetics 2005 Reiner AP, Ziv E, Lind DL, Nievergelt CM, Schork NJ, Cummings SR, Phong A, Burchard EG, Harris TB, Psaty BM, Kwok PY
• Kinetic fluorescence-quenching detection assay for allele frequency estimation.
  Methods in molecular biology (Clifton, N.J.) 2005 Xiao M, Kwok PY
• Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors.
  Human mutation 2005 Zellner C, Pullinger CR, Aouizerat BE, Frost PH, Kwok PY, Malloy MJ, Kane JP
• Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens.
  Genomics 2004 Taillon-Miller P, Saccone SF, Saccone NL, Duan S, Kloss EF, Lovins EG, Donaldson R, Phong A, Ha C, Flagstad L, Miller S, Drendel A, Lind D, Miller RD, Rice JP, Kwok PY
• Pharmacogenomic assessment of carboxylesterases 1 and 2.
  Genomics 2004 Marsh S, Xiao M, Yu J, Ahluwalia R, Minton M, Freimuth RR, Kwok PY, McLeod HL
• Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations.
  Stroke 2004 Pawlikowska L, Tran MN, Achrol AS, McCulloch CE, Ha C, Lind DL, Hashimoto T, Zaroff J, Lawton MT, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project
• Role of excess inorganic pyrophosphate in primer-extension genotyping assays.
  Genome research 2004 Xiao M, Phong A, Lum KL, Greene RA, Buzby PR, Kwok PY
• Single-molecule analysis for molecular haplotyping.
  Human mutation 2004 Kwok PY, Xiao M
• High-throughput genotyping with primer extension fluorescent polarization detection.
  Current protocols in human genetics 2004 Kwok PY
• A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.
  Nature genetics 2003 Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, Kwok PY, Menter A, Bowcock AM
• Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
  Human mutation 2003 Westphal V, Xiao M, Kwok PY, Freeze HH
• ADAM33 is not associated with asthma in Puerto Rican or Mexican populations.
  American journal of respiratory and critical care medicine 2003 Lind DL, Choudhry S, Ung N, Ziv E, Avila PC, Salari K, Ha C, Lovins EG, Coyle NE, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, Matallana H, Lilly CM, Salas J, Selman M, Boushey HA, Weiss ST, …
• DNA analysis by fluorescence quenching detection.
  Genome research 2003 Xiao M, Kwok PY
• Detection of single nucleotide polymorphisms.
  Current issues in molecular biology 2003 Kwok PY, Chen X
• Efficient high-throughput resequencing of genomic DNA.
  Genome research 2003 Miller RD, Duan S, Lovins EG, Kloss EF, Kwok PY
• Homogeneous primer extension assay with fluorescence polarization detection.
  Methods in molecular biology (Clifton, N.J.) 2003 Hsu TM, Kwok PY
• Kinetic FP-TDI assay for SNP allele frequency determination.
  BioTechniques 2003 Xiao M, Latif SM, Kwok PY
• SNP discovery by direct DNA sequencing.
  Methods in molecular biology (Clifton, N.J.) 2003 Kwok PY, Duan S
• SNP genotyping and molecular haplotyping of DNA pools.
  Cold Spring Harbor symposia on quantitative biology 2003 Kwok PY, Xiao M
• Sequence variations in the public human genome data reflect a bottlenecked population history.
  Proceedings of the National Academy of Sciences of the United States of America 2002 Marth G, Schuler G, Yeh R, Davenport R, Agarwala R, Church D, Wheelan S, Baker J, Ward M, Kholodov M, Phan L, Czabarka E, Murvai J, Cutler D, Wooding S, Rogers A, Chakravarti A, Harpending HC, Kwok PY…
• Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.
  Human genetics 2002 Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM
• Making 'random amplification' predictable in whole genome analysis.
  Trends in biotechnology 2002 Kwok PY
• Primer design for PCR and sequencing in high-throughput analysis of SNPs.
  BioTechniques 2002 Vieux EF, Kwok PY, Miller RD
• SNP genotyping with fluorescence polarization detection.
  Human mutation 2002 Kwok PY
• Genomics. Genetic association by whole-genome analysis?
  Science (New York, N.Y.) 2001 Kwok PY
• Genotyping single-nucleotide polymorphisms by the invader assay with dual-color fluorescence polarization detection.
  Clinical chemistry 2001 Hsu TM, Law SM, Duan S, Neri BP, Kwok PY
• Advances in molecular medicine.
  Journal of the American Academy of Dermatology 2001 Hsu TM, Kwok PY
• Genotyping by ligation assays.
  Current protocols in human genetics 2001 Nickerson DA, Ankener W, Delahunty C, Kwok PY
• The optimal measure of allelic association.
  Proceedings of the National Academy of Sciences of the United States of America 2001 Morton NE, Zhang W, Taillon-Miller P, Ennis S, Kwok PY, Collins A
• 3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: 'some notable progress'.
  European journal of human genetics : EJHG 2001 White PS, Kwok PY, Oefner P, Brookes AJ
• Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.
  Human mutation 2001 Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE
• Single-nucleotide polymorphisms in the public domain: how useful are they?
  Nature genetics 2001 Marth G, Yeh R, Minton M, Donaldson R, Li Q, Duan S, Davenport R, Miller RD, Kwok PY
• Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay.
  Genome research 2001 Latif S, Bauer-Sardina I, Ranade K, Livak KJ, Kwok PY
• A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.
  Nature 2001 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, …
• Methods for genotyping single nucleotide polymorphisms.
  Annual review of genomics and human genetics 2001 Kwok PY
• Reflections on a DNA mutation scanning tool.
  Nature biotechnology 2001 Kwok PY
• Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences.
  Genomics 2001 Miller RD, Taillon-Miller P, Kwok PY
• Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.
  Nature genetics 2000 Taillon-Miller P, Bauer-Sardiña I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY
• A high-density single-nucleotide polymorphism map of Xq25-q28.
  Genomics 2000 Taillon-Miller P, Kwok PY
• Approaches to allele frequency determination.
  Pharmacogenomics 2000 Kwok PY
• Finding a needle in a haystack: detection and quantification of rare mutant alleles are coming of age.
  Clinical chemistry 2000 Kwok PY
• Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
  American journal of human genetics 2000 Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, Wu JS, Liu KY, Schonfeld G
• Alternative splicing for the alpha1 subunit of soluble guanylate cyclase.
  The Biochemical journal 2000 Ritter D, Taylor JF, Hoffmann JW, Carnaghi L, Giddings SJ, Zakeri H, Kwok PY
• High-throughput genotyping assay approaches.
  Pharmacogenomics 2000 Kwok PY
• A general approach to single-nucleotide polymorphism discovery.
  Nature genetics 1999 Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR
• Single nucleotide polymorphism libraries: why and how are we building them?
  Molecular medicine today 1999 Kwok PY, Gu Z
• ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
  Human molecular genetics 1999 Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ
• Cost-effective staining of DNA with SYBR green in preparative agarose gel electrophoresis.
  BioTechniques 1999 Miller SE, Taillon-Miller P, Kwok PY
• Efficient approach to unique single-nucleotide polymorphism discovery.
  Genome research 1999 Taillon-Miller P, Piernot EE, Kwok PY
• Fluorescence polarization in homogeneous nucleic acid analysis.
  Genome research 1999 Chen X, Levine L, Kwok PY
• Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.
  Journal of lipid research 1999 Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G
• Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection.
  Genetic analysis : biomolecular engineering 1999 Chen X, Kwok PY
• Genotyping by mass spectrometry takes flight.
  Nature biotechnology 1998 Kwok PY
• Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
  American journal of medical genetics 1998 Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G
• Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing.
  BioTechniques 1998 Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY
• Reading bits of genetic information: methods for single-nucleotide polymorphism analysis.
  Genome research 1998 Landegren U, Nilsson M, Kwok PY
• Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms.
  Genome research 1998 Taillon-Miller P, Gu Z, Li Q, Hillier L, Kwok PY
• A homogeneous, ligase-mediated DNA diagnostic test.
  Genome research 1998 Chen X, Livak KJ, Kwok PY
• Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55).
  Atherosclerosis 1998 Pulai JI, Latour MA, Kwok PY, Schonfeld G
• Detection of single nucleotide variations.
  Genetic engineering 1998 Kwok PY, Chen X
• Single nucleotide polymorphism hunting in cyberspace.
  Human mutation 1998 Gu Z, Hillier L, Kwok PY
• The homozygous complete hydatidiform mole: a unique resource for genome studies.
  Genomics 1997 Taillon-Miller P, Bauer-Sardiña I, Zakeri H, Hillier L, Mutch DG, Kwok PY
• Fluorescence energy transfer detection as a homogeneous DNA diagnostic method.
  Proceedings of the National Academy of Sciences of the United States of America 1997 Chen X, Zehnbauer B, Gnirke A, Kwok PY
• Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer.
  Nucleic acids research 1997 Chen X, Kwok PY
• AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns.
  BioTechniques 1996 Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA
• Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs.
  Genomics 1996 Kwok PY, Deng Q, Zakeri H, Taylor SL, Nickerson DA
• Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry.
  BioTechniques 1995 Parker LT, Deng Q, Zakeri H, Carlson C, Nickerson DA, Kwok PY
• Physical calibration of yeast artificial chromosome contig maps by RecA-assisted restriction endonuclease (RARE) cleavage.
  Genomics 1994 Gnirke A, Iadonato SP, Kwok PY, Olson MV
• Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products.
  Genomics 1994 Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA
• Measurement of relative cerebral blood volume changes with visual stimulation by 'double-dose' gadopentetate-dimeglumine-enhanced dynamic magnetic resonance imaging.
  Investigative radiology 1994 Frank JA, Mattay VS, Duyn J, Sobering G, Barrios FA, Zigun J, Sexton R, Kwok P, Woo J, Moonen C
• Automatable screening of yeast artificial-chromosome libraries based on the oligonucleotide-ligation assay.
  Genomics 1992 Kwok PY, Gremaud MF, Nickerson DA, Hood L, Olson MV
• Swirls, wrinkles and the whole ball of wax (the source of keratin in cerumen).
  The Journal of otolaryngology 1992 Naiberg JB, Robinson A, Kwok P, Hawke M
• The embryonic development of the lateral nasal wall from 8 to 24 weeks.
  The Laryngoscope 1991 Bingham B, Wang RG, Hawke M, Kwok P
• Persistence of the foramen of Huschke in the adult: an osteological study.
  The Journal of otolaryngology 1991 Wang RG, Bingham B, Hawke M, Kwok P, Li JR
• The immunosuppressant FK506 selectively inhibits expression of early T cell activation genes.
  Journal of immunology (Baltimore, Md. : 1950) 1989 Tocci MJ, Matkovich DA, Collier KA, Kwok P, Dumont F, Lin S, Degudicibus S, Siekierka JJ, Chin J, Hutchinson NI
• The embryonic development of the human paraseptal cartilage.
  The Journal of otolaryngology 1988 Wang RG, Kwok P, Hawke M
• Spontaneous temporomandibular joint fistula into the external auditory canal.
  The Journal of otolaryngology 1988 Hawke M, Kwok P, Shankar L, Wang RG
• Bilateral spontaneous temporomandibular joint herniation into the external auditory canal.
  The Journal of otolaryngology 1987 Hawke M, Kwok P, Mehta M, Wang RG
• The epidermoid formation (Michaels' structure) in the developing middle ear.
  The Journal of otolaryngology 1987 Wang RG, Hawke M, Kwok P
• Association between prostaglandin E2 and placental abruption.
  British journal of obstetrics and gynaecology 1987 Leung A, Kwok P, Chang A