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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Meena Balasubramanian

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#gene editing Review Open access Oct 2026

Challenges in Gene-Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar.

Next-generation sequencing has radically transformed the diagnostic capability of rare neurodevelopmental disorders (RNDDs), yet translating these molecular insights into viable therapeutics remains a hurdle. While gene-directed modalities, specifically viral-mediated supplementation, antisense oligonucleotides (ASOs),...

D. Aiyedun, Susan F. Rogers, D. M. Taha et al. · 0 citations
Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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