Author

Andrea Gazzin

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Open access Oct 2026

Evaluating the Role of MC1R Variants in Cutaneous and Ocular Phenotypes: A Candidate TYR–MC1R Genetic Interaction in Oculocutaneous Disorders

Background: The melanocortin-1 receptor (MC1R) gene is a major determinant of skin and hair color. Although several MC1R variants increase the risk of skin tumors regardless of pigmentation, their role as genetic modifiers in ocular diseases remains poorly understood. Methods: Here, we analyzed a cohort of 48 Caucasian...

E. Di Iorio, Francesco Parmeggiani, Antonella De Nardi et al. · Genes · 0 citations

Open access Jul 2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios, and underscores that navigating the complexities of large NDD cohorts requires a detailed, expert-driven approach to enhance diagnostic yield.

Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova et al. · Human Genetics · 0 citations