Research & Publications
Chromosome abnormalities have been common causes for human embryonic failure, fetus anomalies, developmental delay, mental retardation, behavior disorders, cancer initiation and progression. My lab has provided clinical diagnosis and genetic screening for patients suspected with chromosomal abnormalities and genomic defects. Molecular methods such as fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, SNP genotyping, and next-generation sequencing have been used to delineate recognized chromosomal abnormalities. We have validated high through-put genome-wide oligonucleotide microarray analysis for clinical diagnosis of submicroscopic deletions/duplications and for mapping rearrangement breakpoints. We are initiating functional analysis using biochemical and genetic approaches on cellular models. The goals are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, to dissect underlying molecular mechanisms, and to develop diagnostic and therapeutic approaches for patients with chromosomal and genomic aberrations.
Specialized Terms: Cytogenetic and genomic analysis; Dissection of genetic mechanisms for growth regulation, mental development, and cancer progression
Chromosome Aberrations; Cytogenetics; Genetics