Ortal Barel

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

This paper introduces TriVIAI, an explainable AI tool for predicting missense mutation pathogenicity using three modalities, achieving high performance metrics and offering biological insights and explainability.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.