Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder et al.
· JAMA ophthalmology · 0 citations
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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