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M. Tartaglia

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Open access Jul 2026

NFIX missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting

In vitro functional studies support variant-specific disruption of DNA binding, providing a mechanistic basis of genotype-phenotype correlations and informing prognosis, clinical surveillance, and therapy development.

C. Delagrammatikas, L. Gourlay, M. Priolo et al. · 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. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations