Pui Yan Kwok

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Pui Yan



Publications in SciGraph latest 50 shown

  • 2018-12 De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations in NATURE COMMUNICATIONS
  • 2018-03 A large electronic-health-record-based genome-wide study of serum lipids in NATURE GENETICS
  • 2017-12 OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps in GENOME BIOLOGY
  • 2017-01-31 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer in NATURE COMMUNICATIONS
  • 2017-01 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation in NATURE GENETICS
  • 2016-11 Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation in NPJ GENOMIC MEDICINE
  • 2016-07 A hybrid approach for de novo human genome sequence assembly and phasing in NATURE METHODS
  • 2016 Towards a More Accurate Error Model for BioNano Optical Maps in BIOINFORMATICS RESEARCH AND APPLICATIONS
  • 2015-08 Assembly and diploid architecture of an individual human genome via single-molecule technologies in NATURE METHODS
  • 2015-06 COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis in NATURE GENETICS
  • 2015-03 Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-12 Erratum to: Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics in BMC RESEARCH NOTES
  • 2014-12 Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome in BMC GENOMICS
  • 2014-12 Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics in BMC RESEARCH NOTES
  • 2014-12 Prioritizing causal disease genes using unbiased genomic features in GENOME BIOLOGY
  • 2014-08 Gene-based association identifies SPATA13-AS1 as a pharmacogenomic predictor of inhaled short-acting beta-agonist response in multiple population groups in THE PHARMACOGENOMICS JOURNAL
  • 2013-09 A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation in TRANSLATIONAL PSYCHIATRY
  • 2013-03 Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2012-12 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity in NATURE GENETICS
  • 2012-08 Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly in NATURE BIOTECHNOLOGY
  • 2012-05 A Screening Study of Drug–Drug Interactions in Cerivastatin Users: An Adverse Effect of Clopidogrel in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2011-12 Association analysis identifies ZNF750 regulatory variants in psoriasis in BMC MEDICAL GENETICS
  • 2011-12 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease in BMC CARDIOVASCULAR DISORDERS
  • 2011-11 A Common 5′‐UTR Variant in MATE2‐K Is Associated With Poor Response to Metformin in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2011-10 Erratum: Common variants in P2RY11 are associated with narcolepsy in NATURE GENETICS
  • 2011-05 Meta-Analysis Confirms the LCE3C_LCE3B Deletion as a Risk Factor for Psoriasis in Several Ethnic Groups and Finds Interaction with HLA-Cw6 in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2011-04 Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases in GENES & IMMUNITY
  • 2011-04 Functional Characterization of Liver Enhancers That Regulate Drug‐Associated Transporters in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2011-01 Common variants in P2RY11 are associated with narcolepsy in NATURE GENETICS
  • 2010-12 Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2010-04 Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis in NATURE
  • 2009-07 Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus in NATURE GENETICS
  • 2009-06 Narcolepsy is strongly associated with the T-cell receptor alpha locus in NATURE GENETICS
  • 2009-04 Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function in THE PHARMACOGENOMICS JOURNAL
  • 2009-03 Direct determination of haplotypes from single DNA molecules in NATURE METHODS
  • 2009-03 Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22 in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2009-02 Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis in NATURE GENETICS
  • 2008-09 Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus in NATURE GENETICS
  • 2007-10-18 A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2007-10-18 Genome-wide detection and characterization of positive selection in human populations in NATURE
  • 2007-06 Identification of NR1I2 genetic variation using resequencing in EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
  • 2007-04 Recommendations of the 2006 Human Variome Project meeting in NATURE GENETICS
  • 2007-02 Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis in NATURE GENETICS
  • 2006-12 Genome-wide association studies getting more complicated but help is on the way in HUMAN GENOMICS
  • 2006-05 Seventh international meeting on single nucleotide polymorphism and complex genome analysis: ‘ever bigger scans and an increasingly variable genome’ in HUMAN GENETICS
  • 2006-01 Population stratification confounds genetic association studies among Latinos in HUMAN GENETICS
  • 2005-12 Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR in HUMAN GENETICS
  • 2005-08-15 Kinetic Fluorescence-Quenching Detection Assay for Allele Frequency Estimation in PHARMACOGENOMICS
  • 2005-02 Identification of genetic polymorphisms in 40 chemotherapy pathway genes in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2003-12 A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis in NATURE GENETICS
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