Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, and Congenital heart defects research.
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Divergent antioxidant capacity of human islet cell subsets: A potential cause of beta-cell vulnerability in diabetes and islet transplantation
Pontine Malformation, Undecussated Pyramidal Tracts, and Regional Polymicrogyria: A New Syndrome