Area of research
Molecular Biology · Genetics
Research interest
Research interests include Congenital heart defects research, Genomics and Rare Diseases, PARP inhibition in cancer therapy, and Congenital Heart Disease Studies.
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects