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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

Hirokazu Hashimoto

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Review Open access Sep 2026

Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort

Purpose Children with suspected rare genetic disorders often remain undiagnosed after exome, gene panel, or chromosomal microarray testing. We sought to define recurrent missed-diagnosis mechanisms and evaluate an integrated clinical-genomic reanalysis framework. Methods We studied 75 participants with rare or striking...

Hong-Qiu Gu, A. Sabo, S. Jangam et al. · 0 citations
Sep 2026

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

The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...

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

Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder

The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.

David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al. · 0 citations

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