A5056250834- Genomics and Rare Diseases
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Cystic Fibrosis Research Advances
- Cardiomyopathy and Myosin Studies
- Glycosylation and Glycoproteins Research
- RNA and protein synthesis mechanisms
- Tracheal and airway disorders
- Cardiac Valve Diseases and Treatments
- Cardiac pacing and defibrillation studies
- Hemoglobinopathies and Related Disorders
- Mitochondrial Function and Pathology
- Cardiac Arrhythmias and Treatments
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Genetic Syndromes and Imprinting
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
- Machine Learning in Bioinformatics
- Peptidase Inhibition and Analysis
University of Hong Kong
2021-2025
Chinese University of Hong Kong
2022-2025
Abstract Neurodevelopmental disorders (NDDs) often have unknown genetic causes. Current efforts in identifying disease-related variants using exome or genome sequencing still lead to an excessive number of uncertain significance (VUS). There is increasing interest transcriptomics and, more recently, proteomics for variant detection and interpretation. In this study, we integrated quantitative liquid chromatography-mass spectrometry proteomics, RNA sequencing, reanalysis resolve VUS detect...
Traditional carrier screening has been utilized for the detection of carriers genetic disorders. Since a comprehensive assessment frequencies recessive conditions in Southern Chinese population is not yet available, we performed secondary analysis on spectrum and status 315 genes causing autosomal disorders 1543 individuals with next-generation sequencing data, 1116 exome 427 genome data. Our data revealed that 1 2 people (47.8% population) was one or more conditions, 12 (8.30% treatable...
Background In nonsyndromic conotruncal cardiac defects, the use of next-generation sequencing for clinical diagnosis is increasingly adopted, but gene-disease associations in research are only partially translated to diagnostic panels, suggesting a need evidence-based consensus. Methods and Results an exome data set 245 patients with we performed burden analysis on high-confidence congenital heart disease gene list (n=132) rare (<0.01%) ultrarare (absent Genome Aggregation Database)...
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants uncertain significance. However, use amniotic fluid (AF) cells RNA-seq has not yet been explored. Here, we examined expression clinically relevant genes AF (n = 48) compared with whole blood and fibroblasts. The number well-expressed was comparable to that fibroblasts much higher than across different disease categories. We found feasible beneficial prenatal...
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes identification potential biomarkers therapeutic targets. Here, we identify
Abstract We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy, who was found to have caspase recruitment domain family member 9 (CARD9) deficiency. Initial radiological features suggested neoplastic lesion, while histopathological examination supplemented by internal transcribed sequencing (ITS) tissue confirmed the diagnosis phaeohyphomycosis. He treated with intravenous (IV) liposomal amphotericin B and voriconazole, guided plasma cerebrospinal fluid...
Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is retrospective cohort study 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome performed. Molecular diagnosis was obtained 25 the (24%). The highest diagnostic rate found multiple (29.2%), particularly those involvement...
Bronchiectasis is the abnormal dilation of airway which may be caused by various etiologies in children. Beyond more recognized cause bacterial and viral infections primary immunodeficiencies, other genetic conditions such as cystic fibrosis ciliary dyskinesia (PCD) can also contribute to disease. Currently, there still debate on whether genome sequencing (GS) or exome reanalysis (rES) would beneficial if initial targeted testing results returned negative. This study aims provide a...
Neurodevelopmental disorders (NDDs) are among the most common medical conditions affecting children worldwide, yet their underlying genetic causes often remain elusive. Conventional diagnostic pipelines of exome sequencing/genome sequencing (ES/GS) struggle to accurately interpret variants uncertain significance (VUS) due insufficient evidence for determining disease associations, leading inconclusive results and parental anxiety. Multi-omics analysis, encompassing RNA (RNA-seq) quantitative...
DDX39B is a member of the DEAD-box family ATP-dependent RNA helicases. proteins are ubiquitously expressed from yeast to humans and perform essential functions associated with mRNA metabolism. also crucial component TRanscription-EXport (TREX) super protein complex, which recent studies have highlighted important role its subunits in neurodevelopmental disorders. Here we implicate novel disorder. We describe cohort six individuals five families affected by mild severe global developmental...
Precision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel exome-based testing, whole genome sequencing (WGS) offers additional coverage at promoter, intronic regions mitochondrial genome. However, data on use of WGS evaluate genetic cause these cardiovascular conditions children adolescents are limited.
Conotruncal cardiac defects (CTD) is a group of congenital heart diseases (CHD) involving malformation outflow tract, with an estimated prevalence 11.6 per 10,000 births. Currently, robust consensus on causative genes for nonsyndromic CTD remains to be elucidated. To prioritize clinically relevant in whole exome sequencing (WES), we performed gene burden analysis rare (gnomAD allele frequency < 0.01%) protein-altering variants cohort (n = 245) comparing ethnicity and location matched...