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List of works by Chiea Chuen Khor

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

A Genetic Variant in TGFBR3-CDC7 Is Associated with Visual Field Progression in Primary Open-Angle Glaucoma Patients from Singapore.

scientific article published on 14 September 2015

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis

scientific journal article

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

scientific article

A common variant near TGFBR3 is associated with primary open angle glaucoma.

scientific article published on 10 April 2015

A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.

scientific article

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

A hybrid framework for genome wide epistasis discovery

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy

scientific article

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

scientific article

A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations ⬇️

scientific article published on November 30, 2011

A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry

scientific article

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma

scientific article

ADP ribosyl-cyclases (CD38/CD157), social skills and friendship

scientific article published on 16 January 2017

Aggregate Effects of Intraocular Pressure and Cup-to-Disc Ratio Genetic Variants on Glaucoma in a Multiethnic Asian Population.

scientific article published on 4 March 2015

An Evaluation of DNA Methyltransferase 1 (DNMT1) Single Nucleotide Polymorphisms and Chemotherapy-Associated Cognitive Impairment: A Prospective, Longitudinal Study

scientific article published on 10 October 2019

An intronic FTO variant rs16952570 confers protection against thiopurine-induced myelotoxicities in multiethnic Asian IBD patients

scientific article published on 09 December 2019

Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese

scientific article published on 15 September 2019

Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations

scientific article published on 23 February 2014

Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study

scientific article published on 04 September 2019

Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study

scientific article

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore

scientific article published on 10 June 2011

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

Brain-derived neurotrophic factor genetic polymorphism (rs6265) is protective against chemotherapy-associated cognitive impairment in patients with early-stage breast cancer

scientific article

CD209 genetic polymorphism and tuberculosis disease

scientific article

CISH and susceptibility to infectious diseases

scientific article

CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

scientific article

Cartography of opportunistic pathogens and antibiotic resistance genes in a tertiary hospital environment

scientific article published on 08 June 2020

Characterising private and shared signatures of positive selection in 37 Asian populations.

scientific article published on 18 January 2017

Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India.

scientific article

Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct

scientific article published in December 2011

Cloning and variation of ground state intestinal stem cells

scientific article published on 3 June 2015

Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk

scientific article published on 20 June 2013

Collagen-related genes influence the glaucoma risk factor, central corneal thickness

article

Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study

scientific article

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

scientific article published on 11 December 2020

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

scientific article

Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies

scientific article published on 12 February 2013

Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence

scientific article published on 29 June 2016

Coordinated genetic scaling of the human eye: shared determination of axial eye length and corneal curvature

scientific article published on 7 March 2013

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians

scientific article published on 30 March 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

scientific article published in June 2015

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

scientific article

Different hereditary contribution of the CFH gene between polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese Han people.

scientific article

Disruption of vascular homeostasis in patients with Kawasaki disease: involvement of vascular endothelial growth factor and angiopoietins

scientific article published on January 2012

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Establishing multiple omics baselines for three Southeast Asian populations in the Singapore Integrative Omics Study.

scientific article published on 21 September 2017

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

scientific article published on 31 July 2020

Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations

scientific article published on July 2015

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

scientific article published on 30 October 2017

Frequent transmission of the Mycobacterium tuberculosis Beijing lineage and positive selection for the EsxW Beijing variant in Vietnam

article

Functional polymorphisms in the FCN2 gene are not associated with invasive pneumococcal disease

scientific article

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia

scientific article

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities

scientific article

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies

scientific article published in 2022

Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study.

scientific article published on 25 July 2016

Genetic variants of MICB and PLCE1 and associations with non-severe dengue

scientific article

Genetic variants of inducible costimulator are associated with allergic asthma susceptibility

scientific article published on 7 August 2014

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

scientific article published on 12 December 2019

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

scientific article published on 11 January 2016

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

scientific article published on 11 September 2019

Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area

article

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

scientific article

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

scientific article

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia

scientific article

Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia

scientific article published on 20 December 2017

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

scientific article

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

scientific article published on 14 February 2018

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1

scientific journal article

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

article by Sonia Davila et al published 8 August 2010 in Nature Genetics

Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population

scientific article

Genome-wide expression profiling identifies type 1 interferon response pathways in active tuberculosis

scientific article

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease

scientific article

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms

scientific article

Genotyping methods to analyse polymorphisms in Toll-like receptors and disease.

scientific article

Glaucoma Genetics: Recent Advances and Future Directions.

scientific article published on July 2016

Global gene expression profiling identifies new therapeutic targets in acute Kawasaki disease

scientific article published on 20 November 2014

Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese

scientific article published in February 2010

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

Host–pathogen interactions revealed by human genome-wide surveys ⬇️

scientific article published on March 22, 2012

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

scientific article published on 08 February 2017

Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

scientific article

Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

scientific article published on June 2015

Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy

scientific journal article

Identification of type 2 diabetes loci in 433,540 East Asian individuals

scientific article published on 06 May 2020

IkappaB genetic polymorphisms and invasive pneumococcal disease

scientific article

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Impact of measurement error on testing genetic association with quantitative traits.

scientific article published on 24 January 2014

Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing

scientific article

Interaction Between Peroxisome Proliferator Activated Receptor δ and Epithelial Membrane Protein 2 Polymorphisms Influences HDL-C Levels in the Chinese Population.

scientific article published on September 2016

Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson

scientific article published on 31 July 2020

Lack of association between primary angle-closure glaucoma susceptibility loci and the ocular biometric parameters anterior chamber depth and axial length.

scientific article

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

scientific article

Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size

scientific article

Leprosy and the adaptation of human toll-like receptor 1.

scientific article

Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease

scientific article published on 21 December 2015

LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets

scientific article

Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies

scientific article published on 06 June 2019

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration.

scientific article published on September 2015

Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema

scientific article

Mapping the genetic diversity of HLA haplotypes in the Japanese populations

scientific article

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

scientific article published on 28 January 2015

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract

article

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

scientific article

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

scientific article published on 30 October 2020

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

scientific article published on 27 November 2019

Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians

scientific article

Mutational spectrum of Barrett's stem cells suggests paths to initiation of a precancerous lesion

scientific article published on 19 January 2016

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

scientific article

Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk

scientific article published on 28 July 2020

New loci and coding variants confer risk for age-related macular degeneration in East Asians

scientific article

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

scientific article published on 18 June 2018

PTPN22 and invasive bacterial disease

article

Patient-based transcriptome-wide analysis identify interferon and ubiquination pathways as potential predictors of influenza A disease severity

scientific article

Pharmacogenetics of UGT1A4, UGT2B7 and UGT2B15 and Their Influence on Tamoxifen Disposition in Asian Breast Cancer Patients

scientific article

Pharmacogenetics of irinotecan, doxorubicin and docetaxel transporters in Asian and Caucasian cancer patients: a comparative review.

scientific article

Polypoidal choroidal vasculopathy and systemic lupus erythematosus

scientific article published on 09 January 2014

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.

scientific article

Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

scientific article

Reply to ”Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations”

scholarly article by Chiea Chuen Khor et al published March 2008 in Nature Genetics

Revealing the molecular signatures of host-pathogen interactions.

scientific article published on 19 October 2011

Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

SgD-CNV, a database for common and rare copy number variants in three Asian populations

scientific article published on 30 September 2011

Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.

scientific article

Shared pathways to infectious disease susceptibility?

scientific article

Strategies for identifying the genetic basis of dyslipidemia: genome-wide association studies vs. the resequencing of extremes.

scientific article published on April 2010

Support for TGFB1 as a Susceptibility Gene for High Myopia in Individuals of Chinese Descent

article

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

scientific article

The Contribution of Genetic Architecture to the 10-Year Incidence of Age-Related Macular Degeneration in the Fellow Eye.

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic variants underlying breast cancer treatment-induced chronic and late toxicities: a systematic review.

scientific article published on 14 October 2014

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Variation at HLA-DRB1 is associated with resistance to enteric fever

scientific article

Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma

scientific article published on 12 November 2018

Whole-Genome Sequencing Analysis of Serially Isolated Multi-Drug and Extensively Drug Resistant Mycobacterium tuberculosis from Thai Patients

scientific article

Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations

scientific article published on 15 April 2015

Whole-genome reconstruction and mutational signatures in gastric cancer.

scientific article

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

scientific article

cMET and refractive error progression in children

scientific article published on 4 June 2009

iCall: a genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array

scientific article

mcr-1 in Multidrug-Resistant blaKPC-2-Producing Clinical Enterobacteriaceae Isolates in Singapore

scientific article published on 8 August 2016

rs4711751 and rs1999930 are not associated with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in the Chinese population.

scientific article

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