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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

C. Bonnemann

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Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · 0 citations
Open access Aug 2026

Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.

A human induced pluripotent stem cell line TRNDi045-A-38 from the KOLF2.1J reference line is generated, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9, and could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.

B. M. Jones, Miao Xu, J. Zou et al. · 0 citations

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