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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

L. Alabdi

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Open access Oct 2026

Biallelic BECN1 variants cause neurodevelopmental disorders via AMPA receptor dysregulation

Genetic regulation of neurodevelopmental disorders that impair brain development and social interaction is complex and poorly understood. Although emerging evidence suggests a link between neurodevelopmental disorders and autophagy deficits, congenital autophagy gene disorders are rare in humans, and underlying molecul...

K. Kuramoto, F. Ullah, P. Liang et al. · 0 citations
Open access Jul 2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Functional modelling in zebrafish confirms a loss‑of-function mechanism and highlights species‑dependent differences specifically in the impact of the missense variant on protein function, and provides a cautionary tale about overreliance on animal models as a screening tool for variant classification.

H. Shamseldin, Dana Marafi, Mohammed A Al-Muhaizea et al. · 0 citations

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