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Genetics

D-Index
98
Citations
57320
World Ranking
795
National Ranking
401

Medicine

D-Index
98
Citations
57511
World Ranking
8739
National Ranking
4505

Research.com Recognitions

  • 2020 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Pui-Yan Kwok is affiliated with the University of California, San Francisco in the United States. Their research primarily focuses on the fields of biochemistry, genetics, and molecular biology, with a substantial number of publications contributed to these areas.

The main fields of study for Pui-Yan Kwok include:

  • Biochemistry, Genetics and Molecular Biology

Their work spans several subfields including:

  • Genetics
  • Molecular Biology
  • Plant Science
  • Cancer Research
  • Pediatrics, Perinatology and Child Health

Pui-Yan Kwok's research topics are centered around:

  • Genomics and Rare Diseases
  • Genetic Associations and Epidemiology
  • Genomic variations and chromosomal abnormalities
  • Chromosomal and Genetic Variations
  • Genomics and Phylogenetic Studies
  • Congenital heart defects research
  • RNA modifications and cancer

Notable recent publications by Pui-Yan Kwok include:

  • "The role of exome sequencing in newborn screening for inborn errors of metabolism," 2020, Nature Medicine
  • "Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese," 2021, npj Genomic Medicine
  • "Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity," 2021, Blood
  • "Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome," 2021, American Journal of Medical Genetics Part A
  • "Towards a reference genome that captures global genetic diversity," 2020, Nature Communications

Frequent co-authors with whom Pui-Yan Kwok has collaborated include:

  • Neil Risch
  • Anne Slavotinek
  • Mark Kvale
  • Barbara A. Koenig
  • Joseph T.C. Shieh

Pui-Yan Kwok's publications appear regularly in several venues, notably:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • npj Genomic Medicine
  • UNC Libraries
  • Nature Communications
  • Molecular Psychiatry

In recognition of their contributions, Pui-Yan Kwok was named a Fellow of the American Association for the Advancement of Science (AAAS) in 2020.

Best Publications

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

    Ravi Sachidanandam;David Weissman;Steven C. Schmidt;Jerzy M. Kakol

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

    Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

  • Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways

    Rajan P. Nair;Kristina Callis Duffin;Cynthia Helms;Jun Ding

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

    Mark J.P. Chaisson;Mark J.P. Chaisson;Ashley D. Sanders;Xuefang Zhao;Xuefang Zhao;Ankit Malhotra

  • The immunosuppressant FK506 selectively inhibits expression of early T cell activation genes.

    M. J. Tocci;Diana Matkovich;K. A. Collier;P. Kwok

  • Methods for genotyping single nucleotide polymorphisms.

    Pui-Yan Kwok

  • A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci

    Ying Liu;Cynthia Helms;Wilson Liao;Lisa C. Zaba

  • Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

    Ernest T Lam;Alex Hastie;Chin Lin;Dean Ehrlich

  • A general approach to single-nucleotide polymorphism discovery

    Gabor T. Marth;Ian F Korf;Mark D. Yandell;Raymond T. Yeh

  • Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

    Rafael De Cid;Eva Riveira-Munoz;Patrick L.J.M. Zeeuwen;Jason Robarge

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

    Sergio E. Baranzini;Joann Mudge;Jennifer C. Van Velkinburgh;Pouya Khankhanian

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

    Joachim Hallmayer;Juliette Faraco;Ling Lin;Stephanie Hesselson

  • Reading Bits of Genetic Information: Methods for Single-Nucleotide Polymorphism Analysis

    Ulf Landegren;Mats Nilsson;Pui-Yan Kwok

  • Assembly and diploid architecture of an individual human genome via single-molecule technologies

    Matthew Pendleton;Robert Sebra;Andy Wing Chun Pang;Ajay Ummat

  • Fluorescence Polarization in Homogeneous Nucleic Acid Analysis

    Xiangning Chen;Leanna Levine;Pui-Yan Kwok

  • Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

    Nicholas J. Wang;Zachary Sanborn;Kelly L. Arnett;Laura J. Bayston

  • Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

    L. C. Tsoi;S. L. Spain;J. Knight;E. Ellinghaus

Frequent Co-Authors

Neil Risch
Neil Risch University of California, San Francisco
Esteban G. Burchard
Esteban G. Burchard University of California, San Francisco
Michael T. Lawton
Michael T. Lawton Barrow Neurological Institute
Charles E. McCulloch
Charles E. McCulloch University of California, San Francisco
Stephen K. Van Den Eeden
Stephen K. Van Den Eeden Kaiser Permanente
Elad Ziv
Elad Ziv University of California, San Francisco
Bruce M. Psaty
Bruce M. Psaty University of Washington
Eric Jorgenson
Eric Jorgenson Kaiser Permanente
Anne M. Bowcock
Anne M. Bowcock Icahn School of Medicine at Mount Sinai
Gonçalo R. Abecasis
Gonçalo R. Abecasis University of Michigan–Ann Arbor

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