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Lista de obras de Pui-Yan Kwok

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

A general approach to single-nucleotide polymorphism discovery

artículo científico publicado en 1999

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2003

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 1999

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Advances in molecular medicine

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

Alternative splicing for the alpha1 subunit of soluble guanylate cyclase

artículo científico publicado en 2000

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Arteriovenous Malformation

article

Association analysis identifies ZNF750 regulatory variants in psoriasis.

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Cerivastatin, genetic variants, and the risk of rhabdomyolysis

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Common variants in P2RY11 are associated with narcolepsy

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

Correction to Multicolor Super-Resolution DNA Imaging for Genetic Analysis

scholarly article published in Nano Letters

DNA analysis by fluorescence quenching detection

artículo científico publicado en 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2008

Direct determination of haplotypes from single DNA molecules

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 1998

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

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

artículo científico publicado en 2009

Efficient high-throughput resequencing of genomic DNA.

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2001

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

GENOMICS: Genetic Association by Whole-Genome Analysis?

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

High-throughput Genotyping Methods for Pharmacogenomic Studies

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

artículo científico publicado en 1999

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Identification of NR1I2 genetic variation using resequencing

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

artículo científico publicado en 2009

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

artículo científico publicado en 1996

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

artículo científico publicado en 2009

Interleukin-6 involvement in brain arteriovenous malformations

artículo científico publicado en 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?

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2011

Making ‘random amplification’ predictable in whole genome analysis

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Methods for Genotyping Single Nucleotide Polymorphisms ⬇️

artículo científico publicado el 1 de enero de 2001

Mitochondrial DNA sequence variation and risk of pancreatic cancer

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Multicolor super-resolution DNA imaging for genetic analysis

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Nicotinic acetylcholine receptor variation and response to smoking cessation therapies

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Population stratification confounds genetic association studies among Latinos

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Rapid DNA mapping by fluorescent single molecule detection

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Recommendations of the 2006 Human Variome Project meeting

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Reflections on a DNA mutation scanning tool

article

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

Response to Letter by Atanassova

Role of excess inorganic pyrophosphate in primer-extension genotyping assays

artículo científico publicado en 2004

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

artículo científico publicado en 2002

SNP genotyping with fluorescence polarization detection

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

Single nucleotide polymorphism hunting in cyberspace

artículo científico publicado en 1998

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1997

Temporal dissection of tumorigenesis in primary cancers

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 1997

The optimal measure of allelic association

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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