Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)

This grant supports screening, functional validation, and characterization of genetic variants linked to human congenital anomalies, intellectual developmental disabilities, and inborn errors of metabolism. It funds work that uses in-silico tools, animal models, in-vitro systems, or combined approaches to determine the functional effects of these variants.