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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. Pais

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Open access Sep 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

CUB and Sushi domains-containing CSMD proteins are involved in neuron development. Variants in the CSMD1-3 paralogs were GWAS-associated with cognition, attention-deficit hyperactivity disorder (ADHD), schizophrenia and brain structure, suggesting that these genes could be linked to neurodevelopmental disorders (NDD)....

C. Pailler-Pradeau, M. Lemée, Caterina Cevallos et al. · 0 citations
Open access Aug 2026

Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates

By leveraging specialized approaches for prioritizing pseudogenes, combined with the PCG and snRNA analysis, the genes and variants expand the variant pathogenicity spectrum of spliceosomopathies and suggest variants for follow-up case series and future functional validation.

O. Messaoud, S. DiTroia, R. Tarawneh et al. · 0 citations

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