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Geo Map
AS - Asia6045
NA - North America3241
EU - Europe2046
HKU - The University of Hong Kong736
AF - Africa359
OC - Oceania189
SA - South America20
UND - Undefined138
US - United States3200
CN - China3040
KR - Republic of Korea873
GB - United Kingdom813
HK - Hong Kong809
HKU - The University of Hong Kong736
SG - Singapore618
IE - Ireland451
ZA - South Africa285
NL - Netherlands270
OTH - Others1679
The University of Hong Kong736
Central District281
Exonic de novo mutations in sporadic Hirschsprung disease70
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease326
Targeted next-generation sequencing on hirschsprung disease: A pilot study exploits DNA pooling69
Genome-wide association study of Hirschsprung's disease144
Genomi-wide association study on anorectal malformations in the Chinese population139
Genome-wide association study of Hirschsprung’s disease164
Quantifying epistasis between two sets of signaling pathway genes by canonical correlation analysis323
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases166
Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals162
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease84
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster)25
Whole Exome Sequencing versus Target Gene Panels for Evaluation of Isolated CaseProbands with Dilated and Hypertrophic Cardiomyopathy109
Using next-generation whole-exome sequencing approaches to elucidate the genetic basis for nasopharyngeal carcinoma58
Mutations in the NRG1 gene are associated with Hirschsprung disease261
Epidemiological and genetic analysis of Banglaeshi Hirschsprung disease patients (Poster presentation)51
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese211
Roles of enteric neural stem cell niche and enteric nervous system development in Hirschsprung disease12
A gene-based test of association using canonical correlation analysis100
Exome-chip association analyses for diabetic nephropathy and estimated glomerular filtration rate in Chinese patients with type 2 diabetes110
Genome-wide association study identifies susceptibility loci for biliary atresia143
Genome-wide copy number variation in anorectal malformations97
Genetics of Hirschsprung’s Disease42
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca129
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease14
Genova: GENe OVerlap Analysis of GWAS results44
Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease114
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3174
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2329
Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays108
Genetic profile of a multiplex Hirschsprung disease family87
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing71
Seventy-five genetic loci influencing the human red blood cell55
Adaptive evolution hotspots at the GC-extremes of the human genome: Evidence for two functionally distinct pathways of positive selection54
Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease34
No NRG1 V266L in Chinese patients with schizophrenia219
Evaluation of candidate genes for Hirschsprung disease using targeted sequencing69
Trans-ethnic meta-analysis of Hirschsprung disease104
Identification of Genes Associated with Hirschsprung Disease, Based on Whole-genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development106
Fine mapping of Hirschsprung’s disease loci in 9q31206
Cancer gene mutations in congenital pulmonary airway malformation patients199
Whole exome sequencing analysis in biliary atresia: a follow-up study44
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia77
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease109
iPSC-based disease model reveals defective APP processing by BACE2 as a novel disease mechanism underlying Hirschsprung47
An Exome-Chip Association Analysis in Chinese Subjects Reveals a Functional Missense Variant of GCKR That Regulates FGF21 Levels236
Exome-chip association analysis on a multifunctional anti-tumor factor, pigment epithelium-derived factor (PEDF), in patients with type 2 diabetes137
Chinese family with diffuse oesophageal leiomyomatosis: A new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism102
Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype85
Deciphering the genetic basis of Hirschsprung disease by whole genome sequencing99
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population236
Evolutionary conservation of hypermutable codons within human genes117
Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma166
Integrative genomic profile for a patient with Hirschsprung disease62
Genome-wide profile of copy number variants for Hirschsprung disease129
A Structural Split in the Human Genome148
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development5
Genome-wide copy number variation study in anorectal malformations107
Fine mapping of the NRG1 hirschsprung's disease locus206
Genetic dissection of Hirschsprung's disease387
Age-Biomarkers-Clinical Risk Factors for Prediction of Cardiovascular Events in Patients With Coronary Artery Disease.142
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3254
Genetic regulation of Pigment Epithelium-Derived Factor (PEDF): An exome-chip association analysis in Chinese subjects with Type 2 Diabetes166
Actionable secondary findings from whole-genome sequencing of 954 East Asians104
Rare and common variants in sporadic Hirschsprung disease patients50
Genetic variants on NRG1 confer susceptibility to Hirschsprung's disease125
Mendelian randomization focused analysis of vitamin D on the secondary prevention of ischemic stroke21
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes103
A new machine-learning based method to accurately assess copy number variants from whole genome sequencing data and its application on the analysis of the Hirschsprung disease genome48
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese212
Rare variants in sporadic Hirschsprung disease patients148
Genome-wide association analysis of Hirschsprung's disease102
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk172
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data21
Copy Number Variations (CNVs) analysis of Hirschsprung Disease (HSCR) using Whole Genome Sequencing (WGS) data59
Fine mapping of the 9q31 Hirschsprung's disease locus178
Intron length and accelerated 3' gene evolution.149
Unraveling the genetic basis of nasopharyngeal carcinoma using next-generation sequencing approaches82
Mapping of a Hirschsprung's disease locus in 3p21242
Meta-analysis of genome-wide association studies of Hirschsprung disease in European and Asian populations39
Introduction to Genomics14
Genetics of congenital megacolon in East Asians52
HLA-B*38:02:01 Predicts Carbimazole/Methimazole-Induced Agranulocytosis266
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population29
Actionable secondary findings in Hong Kong Chinese based on exome sequencing data27
The emerging genetic landscape of Hirschsprung disease and its potential clinical applications8
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease652
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data2
A RET founder mutation in Chinese hirschsprung's patients217
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy111
Exome chip meta-analysis identifies novel loci and East Asian–specific coding variants that contribute to lipid levels and coronary artery disease152
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes146
A random forest-based framework for genotyping and accuracy assessment of copy number variations15
Identification of rare variants in the NRG1 gene of Hirschsprung's patients182
Role of DNA methylation and intron structure in genetic evolution308
Genes regulating enteric nervous system development are impacted by Copy Number loss and modify penetrance in epistasis with RET11
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese exome sequencing data37
An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population12
ATP-binding cassette (ABC) transporter recessive mutations in biliary atresia cases40
Whole-exome sequencing identifies genetic susceptibility locus associated with familial nasopharyngeal carcinoma95
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype53
Epidemiological characteristics of Hirschsprung’s disease (HSCR): Results of a case series of fifty patients from Bangladesh63
High-sensitivity troponin I and B-type natriuretic peptide biomarkers for prediction of cardiovascular events in patients with coronary artery disease with and without diabetes mellitus40
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization46
A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits145
Patterns Of Cpg Dinucleotides In Coding And Non-coding Dna153