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Author

R. Șerban

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Review Open access Oct 2026

Diagnostic Yield and Clinical Actionability of Genetic Testing in Neurodevelopmental Disorders: A Systematic Review and Meta-Analysis

Genetic testing is increasingly central to the evaluation of neurodevelopmental disorders (NDDs), yet most evidence emphasises diagnostic yield rather than whether findings change clinical care. We conducted a systematic review and meta-analysis (Preferred Reporting Items for Systematic Reviews and Meta-Analyses [PRISM...

Alexandra-Aurora Dumitra, Ioana Streață, Adina Turcu-Știolică et al. · 0 citations
Review Open access Aug 2026

From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments

Achondroplasia is increasingly understood as a disorder of dysregulated growth plate signaling rather than solely a condition of reduced stature and vosoritide provides clinical proof that pharmacological modulation of FGFR3-related signaling can improve growth velocity.

R. Șerban, Andreea-Mădălina Mituț-Velișcu, Alexandra-Aurora Dumitra et al. · 0 citations

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