A5103004463- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Kawasaki Disease and Coronary Complications
- Nutritional Studies and Diet
- BRCA gene mutations in cancer
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Coronary Artery Anomalies
- Genetic Associations and Epidemiology
- Glycosylation and Glycoproteins Research
- Genetic factors in colorectal cancer
- Systemic Lupus Erythematosus Research
- DNA Repair Mechanisms
- Chronic Lymphocytic Leukemia Research
- Pancreatic function and diabetes
- NF-κB Signaling Pathways
- CRISPR and Genetic Engineering
- Renal Diseases and Glomerulopathies
- Immune Response and Inflammation
- Retinal Development and Disorders
- Ethics in Clinical Research
- Respiratory viral infections research
- Genomic variations and chromosomal abnormalities
- interferon and immune responses
- Telomeres, Telomerase, and Senescence
SingHealth
2018-2025
Duke-NUS Medical School
2018-2025
SingHealth Duke-NUS Academic Medical Centre
2020-2024
Universidad Autónoma del Estado de Morelos
2023
Genome Institute of Singapore
2010-2022
National University of Singapore
2013-2022
National Heart Centre Singapore
2019
Clínica Dávila
2015
Hrvatski zavod za javno zdravstvo
2014
Memorial Hospital
2010
Kawasaki disease (KD) is a pediatric vasculitis that damages the coronary arteries in 25% of untreated and approximately 5% treated children. Epidemiologic data suggest KD triggered by unidentified infection(s) genetically susceptible To investigate genetic determinants susceptibility, we performed genome-wide association study (GWAS) 119 Caucasian cases 135 matched controls with stringent correction for possible admixture, followed replication an independent cohort subsequent fine-mapping,...
Mutations in PRKCSH, encoding the β-subunit of glucosidase II, an N-linked glycan-processing enzyme endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations SEC63, a component protein translocation machinery ER, also this These findings are suggestive role for cotranslational protein-processing pathways maintaining epithelial luminal structure and implicate noncilial ER proteins human
Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based as it manifests in patients with autosomal dominant kidney (ADPKD). The purpose this study was to develop a clinical profile isolated (ADPLD) using nonaffected family members controls. included 146 probands, known affected relatives, first-degree relatives individuals. Participants underwent formalized medical history interview physical examination, ultrasonographic examination kidneys,...
Transforming growth factor (TGF)-β is a multifunctional peptide that important in T-cell activation and cardiovascular remodeling, both of which are features Kawasaki disease (KD). We postulated variation TGF-β signaling might be KD susceptibility outcome.We investigated genetic 15 genes belonging to the pathway total 771 subjects mainly European descent from United States, Kingdom, Australia, Netherlands. analyzed transcript abundance patterns using microarray reverse...
A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). ADPKD associated with altered endothelial-dependent vasodilation and decreased vascular production of nitric oxide (NO). Thus, ENOS, the gene coding for endothelial synthase (eNOS), could have a modifier effect ADPKD. In order to test this hypothesis, we genotyped 173 unrelated patients from Belgium north France Glu298Asp, intron 4 VNTR T-786C polymorphisms ENOS looked their influence...
The human Fc-gamma receptors (FcγRs) link adaptive and innate immunity by binding immunoglobulin G (IgG). All low-affinity FcγRs are encoded the FCGR2/3 locus containing functional single nucleotide polymorphisms (SNPs) gene copy number variants. This is notoriously difficult to genotype high-throughput methods commonly used focus on only a few SNPs. We performed multiplex ligation-dependent probe amplification for all relevant genetic variations at in >4,000 individuals define linkage...
ABSTRACT. Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized by the presence of persistent or recurrent hematuria. The clinical and pathologic features this syndrome resemble those early Alport (AS), for reason molecular defect has been proposed. COL4A3/4 genes seem to be involved in both AS FBH. This study involves linkage analysis loci search mutations within these 11 biopsy-proven FBH families. Haplotype showed that locus could not excluded eight nine...
To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache.Independent discovery exome genome sequencing 1, 2, 3, confirmation 4 5. Expression wild-type messenger RNA protein human mouse tissues cell lines. Ciliary assays fibroblasts from affected unaffected family members.We found heterozygous...
Abstract Sleep is associated with various health outcomes. Despite their growing adoption, the potential for consumer wearables to contribute sleep metrics sleep-related biomedical research remains largely uncharacterized. Here we analyzed tracking data, along questionnaire responses and multi-modal phenotypic data generated from 482 normal volunteers. First, compared wearable-derived self-reported metrics, particularly total time (TST) efficiency (SE). We then identified demographic,...
Abstract Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the value family unknown. We evaluated utility incorporating information for genomic selection. Methods To ascertain relationship between histories on such population-level initiatives, we analysed whole genome sequences 1750 research...
Delineating candidate genes at the chromosomal breakpoint regions in apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7–11 kb) paired-end tag technology (DNA-PET) systematically analyze genome four patients harbouring cytogenetically defined ABCR neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. characterized structural...
Abstract As the discovery of new genes causing inherited retinal disease (IRD) has plateaued, we look to other factors which could be used maximize diagnostic yield. We analyzed whole-exome sequencing (WES) data from 506 IRD probands, focusing on interplay between yield, age symptom onset or diagnosis, family history, and initial clinical diagnosis. The cohort’s overall yield was 49.2%. Diagnostic negatively correlated with positively number affected members. Diseases distinctive...
While the aetiology of age-related macular degeneration (AMD)-a major blinding disease-remains unknown, disease is strongly associated with variants in complement factor H (CFH) gene. CFH also confer susceptibility to invasive infection several bacterial colonizers nasopharyngeal mucosa. This shared locus implicates deregulation as a common mechanism, and suggests possibility that microbial interactions host may trigger AMD. In this study, we address by testing hypothesis AMD specific...
Growing evidence suggests a role for cancer susceptibility genes such as
The cellular and molecular mechanisms underlying neurodevelopmental conditions such as autism spectrum disorders have been studied intensively for decades. ability to generate patient-specific induced pluripotent stem cells (iPSCs) now offers a novel strategy modelling human diseases. Recent studies reported the derivation of iPSCs from patients with neurological disorders. key challenge remains demonstration disease-related phenotypes model disease. Here we report case study signs (NDDs)...