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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

Shinya Yamamoto

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Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomi...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · 0 citations
Sep 2026

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · 1 citation

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