Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Genomics and Rare Diseases, Reproductive Biology and Fertility, Genomic variations and chromosomal abnormalities, and Genetics and Neurodevelopmental Disorders.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Novel variants in <i>KAT6B</i> spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Congenital Heart Defects Due to <i>TAF1</i> Missense Variants
Exome sequencing identifies novel missense and deletion variants in <scp><i>RTN4IP1</i></scp> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis
Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity
Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries
Glutathione S-transferase class mu regulation of apoptosis signal-regulating kinase 1 protein during VCD-induced ovotoxicity in neonatal rat ovaries