Home > People > Pui-Yan Kwok, MD, PhD
Kwok

Pui-Yan Kwok, MD, PhD

Professor Emeritus
Cardiovascular Research Institute
Address: 
555 Mission Bay Blvd South, Rm 001
UCSF Box 3118
San Francisco, CA 94158
United States
Phone: 
+1 415 271-7832

Research Summary:
Genetic analysis of complex traits, DNA technology development Summary: We are developing efficient methods to analyze single DNA molecules and applying molecular genetic tools to identify genetic factors associated with complex human traits such as longevity, sudden cardiac arrest, stroke, psoriasis, lupus, and kidney transplantation outcome. We are also conducting studies to identify genetic factors associated with drug response. The overall goal of our research is to develop the tools for genetic analysis of whole genomes and apply these tools to elucidate the genetic factors associated with common human diseases and phenotypes. The sequencing of the human genome and the mapping of common genetic variation by the International HapMap Consortium, in which our lab participated, have inspired an explosion of new technologies, accelerating identification of genetic susceptibility loci. Our phenotypes of interest include kidney transplantation outcomes, longevity, pharmacogenetics of membrane transporters, sudden cardiac death, psoriasis, skin cancer and brian vascular malformations and hemorrhage.

Publications: 

A de novo int22h-1/int22h-2-flanked Xq28 deletion-associated preferential X-inactivation in a female with severe hemophilia B.

Pediatric blood & cancer

Chen WC, Kao HJ, Kwok PY, Chiou SS, Kuo YL, Hsu WY, Lu PT, Wu CR, Lin PC

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

NPJ genomic medicine

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 MJ, Huang SP

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.

NPJ genomic medicine

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

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, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME

Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.

Nature communications

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

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

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.

Nature communications

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 I, Ishtiaq U, Fatima A, Sheikh SS, Hameed S, Ishaq M, Rasheed SZ, Memon FU, Jalal A, Abbas S, Frossard P, Fuchsberger C, Forer L, Schoenherr S, Bei Q, Bhangale T, Tom J, Gadde SGK, B V P, Naik NK, Wang M, Kwok PY, Khera AV, Lakshmi BR, Butterworth AS, Chowdhury R, Danesh J, di Angelantonio E, Naheed A, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Biswas A, Pal PK, Muthane UB, Das SK, Ramprasad VL, Kukkle PL, Seshagiri S, Kathiresan S, Ghosh A, Mohan V, Saleheen D, Stawiski EW, Peterson AS

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

NPJ genomic medicine

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, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME

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

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

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

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, Pullinger CR

Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

NPJ genomic medicine

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, Kwok PY, Boffelli D

Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.

Blood

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, Kwok PY, Abdulla FR, Pro B, Louissaint A, Boggon TJ, Sosman J, Guitart J, Rao D, Ruland J, Choi J

Application of full-genome analysis to diagnose rare monogenic disorders.

NPJ genomic medicine

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, Kwok PY, Boffelli D

Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular psychiatry

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, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, JurƩus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zƶllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ

Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population.

Translational psychiatry

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

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

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-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

NPJ genomic medicine

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

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

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, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, JurƩus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zƶllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ

A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility.

Cancer research

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, Kvale MN, Kwok PY, Schaefer C, Risch N, Hoffmann TJ, Van Den Eeden SK, Witte JS

Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.

GigaScience

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

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 PY

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

Current biology : CB

Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, PtƔcek LJ, Fu YH

The role of exome sequencing in newborn screening for inborn errors of metabolism.

Nature medicine

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 Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Human mutation

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

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

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

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

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

Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, PtƔcek LJ, Fu YH

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular genetics & genomic medicine

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

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

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, Vermeesch JR

Evaluating the quality of the 1000 genomes project data.

BMC genomics

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

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 PokornĆ” M, AltmanovĆ” M, Trifonov VA, Schijlen E, KratochvĆ­l L, Fani R, VelenskĆ½ P, RehĆ”k I, Patarnello T, Jessop TS, Hicks JW, Ryder OA, Mendelson JR, Ciofi C, Kwok PY, Pollard KS, Bruneau BG

Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Nature communications

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, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, StĆ¼tz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C

Genome maps across 26 human populations reveal population-specific patterns of structural variation.

Nature communications

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 WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY

A comprehensive evaluation of the genetic architecture of sudden cardiac arrest.

European heart journal

Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, MĆ¼ller-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, EngstrĆøm T, Salomaa V, Virmani R, Kolodgie F, Wilde AAM, Tan HL, Bezzina CR, Eijgelsheim M, Rioux JD, Jouven X, KƤƤb S, Psaty BM, Siscovick DS, Arking DE, Sotoodehnia N

Integrative approach identifies corticosteroid response variant in diverse populations with asthma.

The Journal of allergy and clinical immunology

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

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

Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

American journal of respiratory and critical care medicine

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, CeledĆ³n 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

A large electronic-health-record-based genome-wide study of serum lipids.

Nature genetics

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

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

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.

Genome biology

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

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

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

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

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

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)

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

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, Nordstrƶm 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

Newborn Sequencing in Genomic Medicine and Public Health.

Pediatrics

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, 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

Bundle Branch Re-Entrant VentricularĀ Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.

JACC. Clinical electrophysiology

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

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

Nature genetics

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

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

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

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.)

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.)

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

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

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

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

Refaat MM, Tang P, Harfouch N, Wojciak J, Kwok PY, Scheinman M

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.

Genetics

Mak AC, Lai YY, Lam ET, Kwok TP, Leung AK, Poon A, Mostovoy Y, Hastie AR, Stedman W, Anantharaman T, Andrews W, Zhou X, Pang AW, Dai H, Chu C, Lin C, Wu JJ, Li CM, Li JW, Yim AK, Chan S, Sibert J, Džakula Ž, Cao H, Yiu SM, Chan TF, Yip KY, Xiao M, Kwok PY

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

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

Zou J, Tran D, Baalbaki M, Tang LF, Poon A, Pelonero A, Titus EW, Yuan C, Shi C, Patchava S, Halper E, Garg J, Movsesyan I, Yin C, Wu R, Wilsbacher LD, Liu J, Hager RL, Coughlin SR, Jinek M, Pullinger CR, Kane JP, Hart DO, Kwok PY, Deo RC

Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.

PLoS genetics

Hochner H, Allard C, Granot-Hershkovitz E, Chen J, Sitlani CM, Sazdovska S, Lumley T, McKnight B, Rice K, Enquobahrie DA, Meigs JB, Kwok P, Hivert MF, Borecki IB, Gomez F, Wang T, van Duijn C, Amin N, Rotter JI, Stamatoyannopoulos J, Meiner V, Manor O, Dupuis J, Friedlander Y, Siscovick DS

Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.

The journals of gerontology. Series A, Biological sciences and medical sciences

Tranah GJ, Yaffe K, Katzman SM, Lam ET, Pawlikowska L, Kwok PY, Schork NJ, Manini TM, Kritchevsky S, Thomas F, Newman AB, Harris TB, Coleman AL, Gorin MB, Helzner EP, Rowbotham MC, Browner WS, Cummings SR, Health, Aging and Body Composition Study

Cohort Profile: The Jerusalem Perinatal Family Follow-Up Study.

International journal of epidemiology

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)

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

Pendleton M, Sebra R, Pang AW, Ummat A, Franzen O, Rausch T, StĆ¼tz AM, Stedman W, Anantharaman T, Hastie A, Dai H, Fritz MH, Cao H, Cohain A, Deikus G, Durrett RE, Blanchard SC, Altman R, Chin CS, Guo Y, Paxinos EE, Korbel JO, Darnell RB, McCombie WR, Kwok PY, Mason CE, Schadt EE, Bashir A

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

Lapham K, Kvale MN, Lin J, Connell S, Croen LA, Dispensa BP, Fang L, Hesselson S, Hoffmann TJ, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Matsuguchi T, McGuire WB, Miles S, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Kwok PY, Risch N, Schaefer C, Blackburn EH

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Genetics

Banda Y, Kvale MN, Hoffmann TJ, Hesselson SE, Ranatunga D, Tang H, Sabatti C, Croen LA, Dispensa BP, Henderson M, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Olberg D, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Sciortino S, Shen L, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Kwok PY, Schaefer C, Risch N

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Genetics

Kvale MN, Hesselson S, Hoffmann TJ, Cao Y, Chan D, Connell S, Croen LA, Dispensa BP, Eshragh J, Finn A, Gollub J, Iribarren C, Jorgenson E, Kushi LH, Lao R, Lu Y, Ludwig D, Mathauda GK, McGuire WB, Mei G, Miles S, Mittman M, Patil M, Quesenberry CP, Ranatunga D, Rowell S, Sadler M, Sakoda LC, Shapero M, Shen L, Shenoy T, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Wan E, Webster T, Whitmer RA, Wong S, Zau C, Zhan Y, Schaefer C, Kwok PY, Risch N

A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.

Cancer discovery

Hoffmann TJ, Van Den Eeden SK, Sakoda LC, Jorgenson E, Habel LA, Graff RE, Passarelli MN, Cario CL, Emami NC, Chao CR, Ghai NR, Shan J, Ranatunga DK, Quesenberry CP, Aaronson D, Presti J, Wang Z, Berndt SI, Chanock SJ, McDonnell SK, French AJ, Schaid DJ, Thibodeau SN, Li Q, Freedman ML, Penney KL, Mucci LA, Haiman CA, Henderson BE, Seminara D, Kvale MN, Kwok PY, Schaefer C, Risch N, Witte JS

DLX4 is associated with orofacial clefting and abnormal jaw development.

Human molecular genetics

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

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK

The genetics of splicing in neuroblastoma.

Cancer discovery

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

Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO

Prioritizing causal disease genes using unbiased genomic features.

Genome biology

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

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

Hackett CS, Quigley DA, Wong RA, Chen J, Cheng C, Song YK, Wei JS, Pawlikowska L, Bao Y, Goldenberg DD, Nguyen K, Gustafson WC, Rallapalli SK, Cho YJ, Cook JM, Kozlov S, Mao JH, Van Dyke T, Kwok PY, Khan J, Balmain A, Fan Q, Weiss WA

Estimating genotype error rates from high-coverage next-generation sequence data.

Genome research

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

Mak AC, Pullinger CR, Tang LF, Wong JS, Deo RC, Schwarz JM, Gugliucci A, Movsesyan I, Ishida BY, Chu C, Poon A, Kim P, Stock EO, Schaefer EJ, Asztalos BF, Castellano JM, Wyss-Coray T, Duncan JL, Miller BL, Kane JP, Kwok PY, Malloy MJ

Prioritizing genes for X-linked diseases using population exome data.

Human molecular genetics

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

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.)

Kaiser R, Tang LF, Taylor KE, Sterba K, Nititham J, Brown EE, Edberg JC, McGwin G, AlarcĆ³n GS, Ramsey-Goldman R, Reveille JD, VilĆ” LM, Petri M, Rauch J, Miller E, Mesznik K, Kwok PY, Kimberly RP, Salmon JE, Criswell LA

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

European journal of human genetics : EJHG

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

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

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

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

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

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

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

Lemaitre RN, Johnson CO, Hesselson S, Sotoodehnia N, Sotoodhenia N, McKnight B, Sitlani CM, Rea TD, King IB, Kwok PY, Mak A, Li G, Brody J, Larson E, Mozaffarian D, Psaty BM, Huertas-Vazquez A, Tardif JC, Albert CM, LyytikƤinen LP, Arking DE, KƤƤb S, Huikuri HV, Krijthe BP, Eijgelsheim M, Wang YA, Reinier K, LehtimƤki T, Pulit SL, Brugada R, MĆ¼ller-Nurasyid M, Newton-Cheh CH, Karhunen PJ, Stricker BH, Goyette P, Rotter JI, Chugh SS, Chakravarti A, Jouven X, Siscovick DS

Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI.

Obesity (Silver Spring, Md.)

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

Huber AM, Hornung J, Plontke S, Rƶƶsli 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

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

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

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

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

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

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

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ

A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.

The Journal of allergy and clinical immunology

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

Copy number variation analysis in 98 individuals with PHACE syndrome.

The Journal of investigative dermatology

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, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U

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

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

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

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

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

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 Body Composition Study

A screening study of drug-drug interactions in cerivastatin users: an adverse effect of clopidogrel.

Clinical pharmacology and therapeutics

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

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

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

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

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

A common 5'-UTR variant in MATE2-K is associated with poor response to metformin.

Clinical pharmacology and therapeutics

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

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

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

Temporal dissection of tumorigenesis in primary cancers.

Cancer discovery

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 G, Cibulskis K, Aster JC, Huang H, Purdom E, Li J, Bolund L, Arron ST, Gray JW, Spellman PT, Cho RJ

GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

BMC cardiovascular disorders

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

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

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.

Genomics

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, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Quesenberry C, Ranatunga D, Rowell S, Sadler M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Van den Eeden SK, Walter L, Wan E, Wearley R, Webster T, Wen CC, Weng L, Whitmer RA, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N

A genetic risk score combining ten psoriasis risk loci improves disease prediction.

PloS one

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.)

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

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

Functional characterization of liver enhancers that regulate drug-associated transporters.

Clinical pharmacology and therapeutics

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

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)

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

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, Honda Y, Honda M, Hƶgl B, Ton TG, Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL, Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, Jeong JH, Lee SP, Strohl KP, Longstreth WT, Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, Hallmayer J, Mignot E

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

Riveira-Munoz E, He SM, EscaramĆ­s G, Stuart PE, HĆ¼ffmeier 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

Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis.

Pharmacogenetics and genomics

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

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

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

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

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

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

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.

Nature

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

Glucocorticoid receptor gene, low-grade inflammation, and heart failure: the Heart and Soul study.

The Journal of clinical endocrinology and metabolism

Otte C, WĆ¼st 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

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

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

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

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

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.

The Journal of allergy and clinical immunology

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

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, Sjƶdin E, Roelofs MJ, Ferrin TE, Myers R, Kroetz DL, Kwok PY, Giacomini KM

Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease.

Heart rhythm

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

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

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

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

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

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 Fractures

Narcolepsy is strongly associated with the T-cell receptor alpha locus.

Nature genetics

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, Hƶgl B, Longstreth WT, 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, DobrovolnƔ 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

Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.

Experimental gerontology

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

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

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

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

de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramƭs G, Ballana E, Martƭn-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, LƔzaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

Nature genetics

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, Collaborative Association Study of Psoriasis

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

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

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)

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

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

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

Kim H, Hysi PG, Pawlikowska L, Choudhry S, GonzƔlez 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

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

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

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

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

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

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

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

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

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, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, SallĆ©e C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'ArchevĆŖque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J

Genome-wide detection and characterization of positive selection in human populations.

Nature

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, 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, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, SallĆ©e C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'ArchevĆŖque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J

Association of tumor necrosis factor-alpha-238G>A and apolipoprotein E2 polymorphisms with intracranial hemorrhage after brain arteriovenous malformation treatment.

Neurosurgery

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

Common variants in the CRP gene in relation to longevity and cause-specific mortality in older adults: the Cardiovascular Health Study.

Atherosclerosis

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

Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

Human mutation

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

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

King CR, Xiao M, Yu J, Minton MR, Addleman NJ, Van Booven DJ, Kwok PY, McLeod HL, Marsh S

Arteriovenous malformation.

Journal of neurosurgery

Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, Marchuk DA

Recommendations of the 2006 Human Variome Project meeting.

Nature genetics

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, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M

Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels.

American journal of human genetics

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, Cummings S, Kwok PY, Harris T, Zmuda JM, Ziv E, Health, Aging and Body Composition (Health ABC) Study

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis.

Nature genetics

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

Xiao M, Phong A, Ha C, Chan TF, Cai D, Leung L, Wan E, Kistler AL, DeRisi JL, Selvin PR, Kwok PY

African ancestry, socioeconomic status, and kidney function in elderly African Americans: a genetic admixture analysis.

Journal of the American Society of Nephrology : JASN

Peralta CA, Ziv E, Katz R, Reiner A, Burchard EG, Fried L, Kwok PY, Psaty B, Shlipak M

A simple DNA stretching method for fluorescence imaging of single DNA molecules.

Nucleic Acids Research

Chan TF, Ha C, Phong A, Cai D, Wan E, Leung L, Kwok PY, Xiao M

Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage.

Stroke

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

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

Interleukin-6 involvement in brain arteriovenous malformations.

Annals of neurology

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

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

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 D, Shriver MD, Rodriguez-Cintron W, Risch N, Ziv E, Burchard EG, Genetics of Asthma in Latino Americans GALA Study

Polymorphism discovery in 51 chemotherapy pathway genes.

Human molecular genetics

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

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

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

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 R, Kwok PY, Hinney A, Hebebrand J, Vaisse C

High-density single-nucleotide polymorphism maps of the human genome.

Genomics

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, Kwok PY, SNP Consortium Allele Frequency Project

Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics.

Genetic epidemiology

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, PĆ©rez-Stable EJ, Shriver MD, Kwok PY, Sheppard D, Rodriguez-Cintron W, Risch NJ, Burchard EG, Ziv E

Extract signal out of noise.

Human genomics

Kwok PY

Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.

American journal of human genetics

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.)

Xiao M, Kwok PY

Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors.

Human mutation

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

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

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

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

Xiao M, Phong A, Lum KL, Greene RA, Buzby PR, Kwok PY

A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.

Nature genetics

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

ADAM33 is not associated with asthma in Puerto Rican or Mexican populations.

American journal of respiratory and critical care medicine

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, Chapela R, Ford JG, Rodriguez-Cintron W, Silverman EK, Sheppard D, Kwok PY, GonzƔlez Burchard E

DNA analysis by fluorescence quenching detection.

Genome research

Xiao M, Kwok PY

Detection of single nucleotide polymorphisms.

Current issues in molecular biology

Kwok PY, Chen X

Efficient high-throughput resequencing of genomic DNA.

Genome research

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.)

Hsu TM, Kwok PY

Kinetic FP-TDI assay for SNP allele frequency determination.

BioTechniques

Xiao M, Latif SM, Kwok PY

SNP discovery by direct DNA sequencing.

Methods in molecular biology (Clifton, N.J.)

Kwok PY, Duan S

SNP genotyping and molecular haplotyping of DNA pools.

Cold Spring Harbor symposia on quantitative biology

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

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, Sherry ST

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.

Human genetics

Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM

Paternal origins of complete hydatidiform moles proven by whole genome single-nucleotide polymorphism haplotyping.

Genomics

Fan JB, Surti U, Taillon-Miller P, Hsie L, Kennedy GC, Hoffner L, Ryder T, Mutch DG, Kwok PY

Advances in molecular medicine.

Journal of the American Academy of Dermatology

Hsu TM, Kwok PY

Genotyping by ligation assays.

Current protocols in human genetics

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

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

White PS, Kwok PY, Oefner P, Brookes AJ

Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.

Human mutation

Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE

Single-nucleotide polymorphisms in the public domain: how useful are they?

Nature genetics

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

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

Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann N, Zody MC, Linton L, Lander ES, Altshuler D, International SNP Map Working Group

Methods for genotyping single nucleotide polymorphisms.

Annual review of genomics and human genetics

Kwok PY

Reflections on a DNA mutation scanning tool.

Nature biotechnology

Kwok PY

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.

Nature genetics

Taillon-Miller P, Bauer-SardiƱa I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY

Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

American journal of human genetics

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

Ritter D, Taylor JF, Hoffmann JW, Carnaghi L, Giddings SJ, Zakeri H, Kwok PY

A general approach to single-nucleotide polymorphism discovery.

Nature genetics

Marth GT, Korf I, Yandell MD, Yeh RT, Gu Z, Zakeri H, Stitziel NO, Hillier L, Kwok PY, Gish WR

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

Human molecular genetics

Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ

Efficient approach to unique single-nucleotide polymorphism discovery.

Genome research

Taillon-Miller P, Piernot EE, Kwok PY

Fluorescence polarization in homogeneous nucleic acid analysis.

Genome research

Chen X, Levine L, Kwok PY

Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.

Journal of lipid research

Wu J, Kim J, Li Q, Kwok PY, Cole TG, Cefalu B, Averna M, Schonfeld G

Genotyping by mass spectrometry takes flight.

Nature biotechnology

Kwok PY

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.

American journal of medical genetics

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

Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY

Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms.

Genome research

Taillon-Miller P, Gu Z, Li Q, Hillier L, Kwok PY

A homogeneous, ligase-mediated DNA diagnostic test.

Genome research

Chen X, Livak KJ, Kwok PY

Detection of single nucleotide variations.

Genetic engineering

Kwok PY, Chen X

Single nucleotide polymorphism hunting in cyberspace.

Human mutation

Gu Z, Hillier L, Kwok PY

The homozygous complete hydatidiform mole: a unique resource for genome studies.

Genomics

Taillon-Miller P, Bauer-SardiƱa 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

Chen X, Zehnbauer B, Gnirke A, Kwok PY

AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns.

BioTechniques

Parker LT, Zakeri H, Deng Q, Spurgeon S, Kwok PY, Nickerson DA

Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry.

BioTechniques

Parker LT, Deng Q, Zakeri H, Carlson C, Nickerson DA, Kwok PY

Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products.

Genomics

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

Frank JA, Mattay VS, Duyn J, Sobering G, Barrios FA, Zigun J, Sexton R, Kwok P, Woo J, Moonen C

Swirls, wrinkles and the whole ball of wax (the source of keratin in cerumen).

The Journal of otolaryngology

Naiberg JB, Robinson A, Kwok P, Hawke M

The embryonic development of the lateral nasal wall from 8 to 24 weeks.

The Laryngoscope

Bingham B, Wang RG, Hawke M, Kwok P

Persistence of the foramen of Huschke in the adult: an osteological study.

The Journal of otolaryngology

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)

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

Wang RG, Kwok P, Hawke M

Spontaneous temporomandibular joint fistula into the external auditory canal.

The Journal of otolaryngology

Hawke M, Kwok P, Shankar L, Wang RG

Bilateral spontaneous temporomandibular joint herniation into the external auditory canal.

The Journal of otolaryngology

Hawke M, Kwok P, Mehta M, Wang RG

The epidermoid formation (Michaels' structure) in the developing middle ear.

The Journal of otolaryngology

Wang RG, Hawke M, Kwok P

Association between prostaglandin E2 and placental abruption.

British journal of obstetrics and gynaecology

Leung A, Kwok P, Chang A

Faculty Type: 
Core CVRI Faculty