My research is centered on the field of human genetics, with a particular focus on the molecular diagnosis of hereditary diseases. I am deeply engaged in the identification and interpretation of genetic variants associated with rare and complex disorders, leveraging both established and emerging genomic technologies. A key area of interest is the discovery and functional characterization of novel disease-associated genes, which contributes to expanding our understanding of genotype-phenotype correlations. Through my work, I aim to enhance the accuracy and efficiency of genetic diagnostics, ultimately supporting more precise and personalized approaches to patient care.