Marinella Gebbia

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving variant classification.

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

The paper measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.

This study functionally tests STK11 missense variants in mammalian cells, identifying pathogenic variants and providing insights for clinical interpretation.

The paper identifies two categories of transcription factor isoforms with distinct molecular functions and shows they contribute to gene regulatory complexity.

The paper creates a functional map of all possible missense variants in CHK2 to assess their impact on cancer risk.

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

This study maps human glucokinase variant activity using a yeast complementation assay, identifying activity patterns linked to disease and providing insights for variant interpretation and therapeutic development.

This study creates a variant effect map for GDI1 missense variants using functional assays and machine learning to distinguish pathogenic from benign variants.

The paper constructs a high-quality yeast binary interactome map and compares inner- and outer-complexome organization, finding the outer-complexome contains more interactions and exhibits higher functional heterogeneity.

The paper presents HuRI, a comprehensive human protein-protein interaction map, and demonstrates its utility in understanding cellular function and disease mechanisms.

The paper introduces BFG-GI to map DNA damage-dependent genetic interactions in yeast by combining party mating and barcode fusion genetics, revealing new condition-specific interactions.