Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, and Neuroblastoma Research and Treatments.
Cantharidin and Its Analogue Norcantharidin Inhibit Metastasis—Inducing Genes S100A4 and MACC1
GIPC1 regulates MACC1-driven metastasis
Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia
MACC1-Dependent Antitumor Effect of Curcumin in Colorectal Cancer
The newly identified MEK1 tyrosine phosphorylation target MACC1 is druggable by approved MEK1 inhibitors to restrict colorectal cancer metastasis
Saffron Crudes and Compounds Restrict MACC1-Dependent Cell Proliferation and Migration of Colorectal Cancer Cells
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Statin and rottlerin small-molecule inhibitors restrict colon cancer progression and metastasis via MACC1
Prognostic value of MACC1 and proficient mismatch repair status for recurrence risk prediction in stage II colon cancer patients: the BIOGRID studies
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
SPON2, a newly identified target gene of MACC1, drives colorectal cancer metastasis in mice and is prognostic for colorectal cancer patient survival
Recurrence rates and clinical outcome for dogs with grade<scp>II</scp>mast cell tumours with a low<scp>AgNOR</scp>count and Ki67 index treated with surgery alone
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
TO TRANSFER FUNDS FOR SUPPORT OF A STUDY PROPOSED BY THE NATIONAL ACADEMY OF PUBLIC ADMINISTRATION ON IMPLEMENTING CHANGE IN HUMAN RESOURCE MANAGEMENT
Purchase of a Mass Spectrometer for Analysis of Unsaturated Organosilanes (CHEMISTRY)
Undergraduate Research Participation
Equipment to Study New Applications of the Oxy-Cope Rearrangement in Organic Synthesis
1978 National Needs Postdoctoral Fellowship Program