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Geo Map
AS - Asia11750
NA - North America5067
EU - Europe3836
HKU - The University of Hong Kong1366
AF - Africa103
SA - South America34
OC - Oceania34
UND - Undefined111
CN - China9281
US - United States4998
HKU - The University of Hong Kong1366
KR - Republic of Korea1125
GB - United Kingdom1099
IE - Ireland1027
HK - Hong Kong794
FR - France748
NL - Netherlands389
SG - Singapore281
OTH - Others1193
The University of Hong Kong1366
Central District429
Clarks Summit338
Integrating genetic analysis with phenotypes of biliary atresia87
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases97
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease249
Targeted next-generation sequencing on hirschsprung disease: A pilot study exploits DNA pooling76
Cost effective assay choice for rare disease study designs69
SMYD3 tandem repeats polymorphism is not associated with the occurrence and metastasis of hepatocellular carcinoma in a Chinese population94
RET transcriptional regulation by HOXB5 in Hirschsprung’s disease62
Genome-wide association study of Hirschsprung's disease95
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)100
Isolation and chromosomal mapping of human glycogen synthase kinase-3α and -3β encoding genes39
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients140
Protected bronchoalveolar lavage: a new endoscopic method in the diagnosis of bacterial pneumonia | Lavado broncoalveolar protegido: nuevo método endoscópico en el diagnóstico de las neumonías bacterianas.43
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease162
Is there a role for Hedgehog genes in Hirschsprung's diseases?77
Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese118
Mycobacterial DNA not detected in liver sections from patients with primary billiary cirrhosis29
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children75
Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus167
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients103
Chromosomal mapping, tissue distribution and cDNA sequence of Four-and-a-half LIM domain protein 1 (FHL1)71
Mutations in the NRG1 gene are associated with Hirschsprung disease211
Epidemiological and genetic analysis of Banglaeshi Hirschsprung disease patients (Poster presentation)38
Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation129
Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3105
Genetic studies of Hirschsprung's disease53
Exome sequencing of a pedigree with Caudal Regression Syndrome (CRS)120
Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations177
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome204
Association of CD247 with systemic lupus erythematosus in Asian populations512
Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing132
Predictors for early failure after Kasai operation - from clinical to laboratory22
Genetic analysis of CYP2D6 locus of Hong Kong Chinese psychiatric patients57
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing52
Perturbed SUFU-GLI-SOX10 regulatory network underlies defective enteric nervous system development and Hirschsprung disease79
No NRG1 V266L in Chinese patients with schizophrenia218
Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus135
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability126
Hedgehog-Notch induced premature gliogenesis: a new disease mechanism for Hirschsprung's disease.37
Three novel mutation in exon 3 suggest a possible hot-spot in the RET proto-oncogene for Hirschsprung's disease103
Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease89
Cancer gene mutations in congenital pulmonary airway malformation patients180
Whole exome sequencing analysis in biliary atresia: a follow-up study22
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia83
PHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon159
Gene-Based Meta-Analysis of Genome-Wide Association Study Data Identifies Independent Single-Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations235
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations28
Genetic study of a family segregating Shah-Waardenburg syndrome59
Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype85
Molecular genetics of Hirschsprung's disease90
Deciphering the genetic basis of Hirschsprung disease by whole genome sequencing80
Predicting better: the first step to building a personalized model for the prediction of Kasai operation outcome in biliary atresia (BA) patients31
Hedgehog-notch induced premature gliogenesis of neural crest: a cause of Hirschsprung disease104
Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations69
RET and NRG1 interplay in Hirschsprung disease77
Mycobacterium alvei sp. nov.54
HOXB5 regulates the expression of RET in ENS: a novel Hirschsprung's gene88
Integrative genomic profile for a patient with Hirschsprung disease65
PHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon141
Genome-wide copy number variation study in anorectal malformations114
MNX1 (HLXB9) mutations in Currarino patients147
Characterization of the human 36-kDa carboxyl terminal LIM domain protein (hCLIM1)85
Distribution of surface-exposed antigenic glycolipids in recent clinical isolates of Mycobacterium tuberculosis43
HOXB5 cooperates with NKX2-1 in the transcription of human RET101
Gli, a family of novel Hirschsprung genes: discovery and mechanisms45
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3182
Hirschsprung disease, associated syndromes and genetics: A review125
Rare and common variants in sporadic Hirschsprung disease patients36
De novo mutations associated with sporadic cases of Caudal regresion syndrome69
Erratum: Genetic analysis of the CYP2D6 locus in a Hong Kong Chinese population. (Clinical Chemistry (2000) 46 (18-23))41
Genetic polymorphisms of liver intestine-cadherin CDH17 are associated with alternative mRNA splicing and increased risk of hepatocellular carcinoma75
Rare variants in sporadic Hirschsprung disease patients131
Genome-wide association analysis of Hirschsprung's disease74
A study of primary and initial bacterial resistance in patients with tuberculosis from a general hospital during 1983-1987 | ESTUDIO DE LAS RESISTENCIAS BACTERIANAS PRIMARIAS E INICIALES EN ENFERMOS TUBERCULOSOS DE UN HOSPITAL GENERAL DURANTE 1983-198737
Copy Number Variations (CNVs) analysis of Hirschsprung Disease (HSCR) using Whole Genome Sequencing (WGS) data47
Easy differentiation of Mycobacterium mucogenicum from other species of the Mycobacterium fortuitum complex by thin-layer and gas chromatography of fatty esters and alcohols46
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma174
Fine mapping of the 9q31 Hirschsprung's disease locus136
Genetic analysis of the CYP2D6 locus in a Hong Kong Chinese population79
Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians136
Association between CYP2A6 and CYP2C19 mutant alleles57
Mapping of a Hirschsprung's disease locus in 3p21217
Potential use of patient specific induced-pluriopotent stem cell (iPSC) to delineate the molecular pathogenesis of syndromic Hirschsprung (HSCR)82
A potential hot-spot for mutations in the RET proto-oncogene for Hirschsprung's disease64
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis60
Meta-analysis of genome-wide association studies of Hirschsprung disease in European and Asian populations43
Genetics of congenital megacolon in East Asians40
PHOX2B polymorphisms as hirschsprung's disease diagnostic markers and methods based thereon86
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations178
Promoter SNPs regulate RET transcription in Hirschsprungs disease66
Dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients55
A RET founder mutation in Chinese hirschsprung's patients201
Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women124
Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians191
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis75
SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease106
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation84
Mutational analysis of SHH and GLI3 in anorectal malformations191
Genetics of enteric neuropathies52
Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus209
Epidemiological characteristics of Hirschsprung’s disease (HSCR): Results of a case series of fifty patients from Bangladesh55
Characterization of cell cycle phase-based microRNAs in pluripotency and differentiation60
Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice35
Identification of GLI Mutations in Patients with Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice144
Exonic de novo mutations in sporadic Hirschsprung disease69
Occurrence of CYP2D6 gene duplication in Hong Kong Chinese32
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease187
Assignment of the human 14-3-3 epsilon isoform (YWHAE) to human chromosome 17p13 by in situ hybridization61
Genome-wide association study of Hirschsprung’s disease116
Signaling mechanisms regulating neural crest cells in growth & tumorigenesis80
Quantifying epistasis between two sets of signaling pathway genes by canonical correlation analysis294
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases114
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease70
Replication study of SNP associations for colorectal cancer in Hong Kong Chinese143
Estrogen receptors genetic polymorphisms risk association and their functional roles in breast cancer risk: a study on Hong Kong Chinese women162
RET mutational spectrum in Hirschsprung disease: Evaluation of 601 Chinese patients160
Gene network analysis of candidate loci for human anorectal malformations81
Cost effective assay choice for rare disease study designs115
Genome-wide association study identifies susceptibility loci for biliary atresia95
Genome-wide copy number variation in anorectal malformations116
Velo-cardio-facial syndrome, schizophrenia at chromosome 22q1132
Frequencies of defective CYP2C19 alleles in a Hong Kong Chinese population: Detection of the rare allele CYP2C19*438
Genetics of Hirschsprung’s Disease19
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca104
Differential liabilities of coding and non-coding mutations in complex disease82
Mapping of the human cysteine-rich intestinal protein gene CRIP1 to the human chromosomal segment 7q11.2357
Novel RET mutation and single nucleotide polymorphisms (SNPs) in a three generation family with Hirschsprung's disease (HSCR)70
Whole genome sequencing implicates rare variants in sporadic Hirschsprung disease90
Liver intestine-cadherin (CDH17) haplotype is associated with increased risk of hepatocellular carcinoma119
Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese242
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia96
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3107
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2256
Comprehensive comparison of copy number variations detection using Illumina Omni 2.5M and Affymetrix CytoScan® arrays112
Identification of a HOXD13 mutation in a VACTERL patient193
Evaluation of candidate genes for Hirschsprung disease using targeted sequencing39
New HLBX9 mutations in Currarino patients82
Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population118
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease78
Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease228
Fine mapping of Hirschsprung’s disease loci in 9q31160
Fine mapping of the NRG1 Hirschsprung's-associated gene70
Depletion of ikbkap leads to reduced number of enteric neuron and aganglionosis in zebrafish embryos49
Genetic studies of congenital gastrointestinal diseases21
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease79
Gene Network Analysis of Candidate Loci for Human Anorectal Malformations87
TTF-1 and RET promoter SNPs: Regulation of RET transcription in Hirschsprung's disease185
iPSC-based disease model reveals defective APP processing by BACE2 as a novel disease mechanism underlying Hirschsprung38
Transcriptional regulation of RET gene in Hirschsprung disease44
PHOX2B polymorphisms as Hirschsprung's Disease diagnostic markers and methods based thereon107
Distribution of a novel mycolic acid in species of the genus Mycobacterium87
Mapping of nasopharyngeal carcinoma tumor-suppressive activity to a 1.8-Megabase region of chromosome band 11q1381
Chinese family with diffuse oesophageal leiomyomatosis: A new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism118
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population150
Hirschsprung's disease113
Evidence for a new gene associated with Hirschsprung's disease: the PHOX2B gene76
Identification of ADD3 as a susceptible gene for biliary atresia: evidence from genetic fine mapping59
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.128
Genome-wide profile of copy number variants for Hirschsprung disease98
PHOX2B gene is associated with Hirschsprung's disease95
Evaluation of practical chromatographic procedures for identification of clinical isolates of mycobacteria34
ELF1 is associated with systemic lupus erythematosus in Asian populations190
Systems biology approaches to the search for disease genes in Hirschsprung‘s disease58
Fine mapping of the NRG1 hirschsprung's disease locus1409
Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cells156
Mycobacterium brumae sp. nov., a rapidly growing, nonphotochromogenic mycobacterium47
Actionable secondary findings from whole-genome sequencing of 954 East Asians78
Genetic variants on NRG1 confer susceptibility to Hirschsprung's disease89
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model64
Correlation between genetic variations in Hox clusters and Hirschsrpung's disease162
Is there a role for the IHH gene in Hirschsprung's disease?125
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes80
Transcriptional profiling of enteric neural crest cells69
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk123
Genetic basis of Hirschsprung’s disease125
Association study of PHOX2B as a candidate gene for Hirschsprung's disease136
Bilateral pheochromocytomas in MEN2A syndrome: a two-institution experience157
Evaluation of the NK2 homeobox 1 gene (NKX2-1) as a hirschsprung's disease locus114
Genetic study of a fami segregating Waardenburg-Shah syndrome52
Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function96
Genetics of congenital anomalies17
Mapping of the human ribosomal large subunit protein gene RPL29 to human chromosome 3q29-qter43
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis109
Functional analyses of RET mutations in Chinese hirschsprung disease patients294
Liver intestine-cadherin (CDH17) haplotype is associated with alternative mRNA splicing and increased risk of hepatocellular carcinoma95
Hedgehog/notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans137
Schizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q1152
Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population [9]99
Developmental genetics of an oligogenic disorder: Hirschsprung's disease46
Sacral agenesis: a pilot whole exome sequencing and copy number study47
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease604
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease67
Implications of endocrine gland - Derived vascular endothelial growth factor/prokineticin-1 signaling in human neuroblastoma progression122
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes55
HOXB5 binds to multi-species conserved sequence (MCS+9.7) of RET gene and regulates RET expression66
Identification of rare variants in the NRG1 gene of Hirschsprung's patients126
Gas chromatographic whole-cell fatty acid analysis as an aid for the identification of mixed mycobacterial cultures41
Exome sequencing reveals a recessive mechanism involving interacting genes in persistent cloaca62
Radiation hybrid mapping of human cytosolic malate dehydrogenase (hcMDH) to the short arm of chromosome 293