Federico Ferraro

MetaDome now supports GRCh38 alongside GRCh37, adds coordinate lookup, and identifies 52,463 GRCh38 ClinVar missense variants of uncertain significance with uncontradicted pathogenic evidence at homologous Pfam-domain positions.

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

The paper develops MethaDory, a framework to train and validate DNAm-based classifiers for rare diseases using synthetic data, achieving high accuracy across multiple platforms.

This study identifies bi-allelic XPNPEP3 variants causing mitochondrial disease with pediatric cardiomyopathy, revealing impaired mitochondrial protein processing as the underlying mechanism.

This study identifies LRP10 interactors and pathways, showing its role in autophagy and NDFIP1-mediated alpha-synuclein secretion, with differences between LRP10-WT and LRP10-Splice variants.

The paper introduces a new pipeline for analyzing calcium traces in a stem cell model of ventral midbrain astrocytes, enabling functional characterization under physiological and PD conditions.