Elizabeth J. Radford

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

The paper shows that TET3 protects the Dlk1-Dio3 imprinted locus from hypomethylation during iPSC reprogramming from neural stem cells.

The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

The paper shows that common genetic variants contribute to risk and clinical variation in severe neurodevelopmental disorders, even in individuals with known monogenic diagnoses.