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List of works by Pui-Yan Kwok

3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: 'some notable progress'.

scientific article

A High-Density Single-Nucleotide Polymorphism Map of Xq25–q28

article by Patricia Taillon-Miller & Pui-Yan Kwok published May 2000 in Genomics

A Single DNA Molecule Barcoding Method with Applications in DNA Mapping and Molecular Haplotyping

article

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

scientific article

A common variant in the telomerase RNA component is associated with short telomere length

scientific article

A general approach to single-nucleotide polymorphism discovery

scientific article published in December 1999

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

scientific article

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

scientific article

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation

scientific article

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

scientific article

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

scientific article

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

scientific article published on 10 November 2012

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

scientific article (publication date: December 2003)

A second generation human haplotype map of over 3.1 million SNPs

scientific article

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

scientific article published on 13 September 2006

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

scientific article published on 4 September 2003

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

scientific article

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

scientific article published on 8 March 2007

Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease

scientific article

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

scientific article

Advances in molecular medicine

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

scientific article

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

scientific article published in April 2001

Alternative splicing for the alpha1 subunit of soluble guanylate cyclase

scientific article

An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients

scientific article published on 25 April 2008

Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations

scientific article

Apolipoprotein E e4 allele increases the risk of early postoperative delirium in older patients undergoing noncardiac surgery

scientific article

Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations

scientific article

Arteriovenous Malformation

article

Association analysis identifies ZNF750 regulatory variants in psoriasis.

scientific article

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

scientific article published on 28 August 2009

Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity

scientific article

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

scientific article

Association study of long-term kidney transplant rejection using whole-exome sequencing

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

scientific article published on 05 December 2013

Carriers of rare missense variants in IFIH1 are protected from psoriasis

scientific article published on 29 July 2010

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

scientific article

Cerivastatin, genetic variants, and the risk of rhabdomyolysis

scientific article

Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning

scientific article

Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease

scientific article published on 14 March 2008

Common variants in P2RY11 are associated with narcolepsy

scientific article

Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation

scientific article published on 18 December 2008

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

scientific article published on 21 September 2007

Common variation in fatty acid genes and resuscitation from sudden cardiac arrest

scientific article

Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest

scientific article published on 10 January 2014

Comparative Analysis of Human DNA Variations by Fluorescence-Based Sequencing of PCR Products

article

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

scientific article published on 27 January 2020

Copy number variation analysis in 98 individuals with PHACE syndrome

scientific article published on 25 October 2012

Correction to Multicolor Super-Resolution DNA Imaging for Genetic Analysis

scholarly article published in Nano Letters

DNA analysis by fluorescence quenching detection

scientific article

De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

scientific article published in Nature Communications

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

scientific article published on 11 July 2020

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

scientific article

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

scientific article

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

scientific article published in September 2007

Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55)

scientific article published on 01 February 1998

Differences in allergic sensitization by self-reported race and genetic ancestry

scientific article

Direct determination of haplotypes from single DNA molecules

scientific article published on 08 February 2009

Distribution of human SNPs and its effect on high-throughput genotyping

scientific article published on March 2006

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

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

scientific article

EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations

scientific article

Efficient high-throughput resequencing of genomic DNA.

scientific article published on 12 March 2003

Endothelial nitric oxide synthase polymorphism (-786T->C) and increased risk of angiographic vasospasm after aneurysmal subarachnoid hemorrhage

scientific article published on 28 February 2008

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

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

scholarly article published in Nature Genetics

Evaluating the quality of the 1000 genomes project data

scientific article published on 16 August 2019

Fluorescence energy transfer detection as a homogeneous DNA diagnostic method

scientific article published on September 1997

Fluorescence polarization in homogeneous nucleic acid analysis II: 5'-nuclease assay

scientific article

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

scientific article

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

scientific article published on 2 March 2011

Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).

scientific article published on 13 January 2009

Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.

scientific article

GENOMICS: Genetic Association by Whole-Genome Analysis?

scientific article published in Science

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

scientific article

Gene-based association identifies SPATA13-AS1 as a pharmacogenomic predictor of inhaled short-acting beta-agonist response in multiple population groups

scientific article

Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation

scientific article

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

scientific article published in July 2005

Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function

scientific article

Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation ⬇️

scientific article

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

scientific article published on August 2012

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

scientific article published on 04 March 2019

Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards

scientific article published on 29 July 2019

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

scientific article

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

scientific article

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

scientific article

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

scientific article published on July 2009

Genotyping by mass spectrometry takes flight

Glucocorticoid receptor gene and depression in patients with coronary heart disease: the Heart and Soul Study-2009 Curt Richter Award Winner

scientific article published on 27 September 2009

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

scientific article published on 6 April 2010

HGV2009 meeting: bigger and better studies provide more answers and more questions

scientific article published on July 2010

HGV2011: personalized genomic medicine meets the incidentalome

scientific article published on 17 January 2012

HGV2012: leveraging next-generation technology and large datasets to advance disease research

scientific article published on April 2013

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

scientific article published in August 2005

High-throughput Genotyping Methods for Pharmacogenomic Studies

Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection

scientific article published on 01 February 1999

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

scientific article published in February 2007

Human Variome Project: an international collaboration to catalogue human genetic variation

scientific article

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

scientific article

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1

scientific article

Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).

scientific article published on 19 December 2008

Identification of NR1I2 genetic variation using resequencing

Importing human pluripotent stem cell lines derived at another institution: tailoring review to ethical concerns

scientific article published on February 2009

Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs

scientific article published in January 1996

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

scientific article published on 26 February 2009

Interleukin-6 involvement in brain arteriovenous malformations

scientific article published in January 2006

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?

scientific article published on 25 August 2009

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

article

Lack of support for the association between GAD2 polymorphisms and severe human obesity

scientific article published on 30 August 2005

Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens

scientific article published in December 2004

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

scientific article

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

article

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

scientific article

Making ‘random amplification’ predictable in whole genome analysis

scientific article published on 01 October 2002

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

scientific article

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

scientific article

Methods for Genotyping Single Nucleotide Polymorphisms ⬇️

scientific article published on January 1, 2001

Mitochondrial DNA sequence variation and risk of pancreatic cancer

scientific article published on 15 December 2011

Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly

scientific article

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

scientific article published on 16 April 2019

Multicolor super-resolution DNA imaging for genetic analysis

scientific article published on 18 June 2012

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

scientific article published on September 2008

Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation

scientific article published on 01 October 2019

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

scientific article

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

scientific article published on 19 March 2009

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

scientific article

Natural variation in four human collagen genes across an ethnically diverse population

scientific article published on 12 February 2008

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

scientific article

Nicotinic acetylcholine receptor variation and response to smoking cessation therapies

scientific article published on February 2013

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

scientific article published on 24 October 2002

OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis

scientific article published on July 2013

OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps

scientific article published on 01 July 2019

Paternal Origins of Complete Hydatidiform Moles Proven by Whole Genome Single-Nucleotide Polymorphism Haplotyping

article by Jian-Bing Fan et al published January 2002 in Genomics

Pharmacogenomic assessment of carboxylesterases 1 and 2

scientific article

Physical calibration of yeast artificial chromosome contig maps by RecA-assisted restriction endonuclease (RARE) cleavage

scientific article published on November 1994

Polymorphism discovery in 51 chemotherapy pathway genes

article

Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations

scientific article published on 26 August 2004

Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations

scientific article published on 22 September 2005

Population stratification confounds genetic association studies among Latinos

scientific article published on 8 November 2005

Population stratification in a case-control study of brain arteriovenous malformation in Latinos

scientific article published on 07 October 2008

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

scientific article

Rapid DNA mapping by fluorescent single molecule detection

scientific article published on 14 December 2006

Rapid genome mapping in nanochannel arrays for highly complete and accurate de novo sequence assembly of the complex Aegilops tauschii genome

scientific article

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis

scientific article

Reflections on a DNA mutation scanning tool

article

Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences

scientific article

Replication and extension of association between common genetic variants in SIM1 and human adiposity

scientific article

Response to Letter by Atanassova

Role of excess inorganic pyrophosphate in primer-extension genotyping assays

scientific article published on 12 August 2004

SNP databases and pharmacogenetics: great start, but a long way to go.

scientific article published in September 2002

SNP genotyping with fluorescence polarization detection

scientific article

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

scientific article (publication date: 25 April 2008)

SNiPpets from the Third International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, September 8-11, 2000, Taos, New Mexico, USA

article published in 2001

Sequence variations in the public human genome data reflect a bottlenecked population history

scientific article

Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

scientific article published on 17 February 2011

Seventh international meeting on single nucleotide polymorphism and complex genome analysis: 'ever bigger scans and an increasingly variable genome'.

scientific article

Single nucleotide polymorphism hunting in cyberspace

scientific article published in January 1998

Single nucleotide polymorphism libraries: why and how are we building them?

scientific article

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

scientific article published in April 2001

Targeted Genomic Profiling of Acral Melanoma

scientific article published on 01 October 2019

Template-directed dye-terminator incorporation (TDI) assay: a homogeneous DNA diagnostic method based on fluorescence resonance energy transfer

scientific article

Temporal dissection of tumorigenesis in primary cancers

scientific article

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

scientific article published on 01 September 2019

The DNA damage-binding protein XPC is a frequent target for inactivation in squamous cell carcinomas

scientific article

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

scientific article published in December 1997

The optimal measure of allelic association

scientific article published on 17 April 2001

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

scientific article published on 10 August 2020

Towards a reference genome that captures global genetic diversity

scientific article published on 30 October 2020

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

scientific article

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

scientific article

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

scientific article published on 25 October 2017

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