Author

A. Guala

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Open access Sep 2026

Sleep disorders in adults with Cri du Chat syndrome: A questionnaire-based study.

The prevalence, characteristics, and potential determinants of sleep disturbances in adults with CdC syndrome using standardized and validated scales and questionnaires are investigated, emphasizing the need for systematic sleep screening and multidisciplinary management in this population.

Giulia Bellone, A. Di Napoli, C. Zilioli et al. · Sleep Medicine · 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