Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, and Gestational Trophoblastic Disease Studies.
Prenatal Phenotype in a Neonate with Prader-Willi Syndrome and Literature Review.
Fetal Hyperthyroidism with Maternal Hypothyroidism: Two Cases of Intrauterine Therapy.
Global trajectory and future prospects of metronomic chemotherapy research: A scientometric analysis (2000-2022).
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications.
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants
Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants
A Small-Molecule AIE Chromosome Periphery Probe for Cytogenetic Studies.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
Expanded Carrier Screening in Chinese Population - A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women.
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis.
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation.
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results.
Prenatal diagnosis of 5p deletion syndrome: Report of five cases.
Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study.
Prenatal diagnosis of familial atretic encephalocele.
Correction: FOXO3a represses VEGF expression through FOXM1-dependent and -independent mechanisms in breast cancer.
Decision outcomes of women choosing extended non-invasive prenatal testing.
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1
Good practice in reviewing and publishing studies on herbal medicine, with special emphasis on traditional Chinese medicine and Chinese materia medica
Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer