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Author

Alison M. Muir

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Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · 0 citations
Open access Jul 2026

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

This study describes two patients with neurodevelopmental delay who carry de novo TRIM28 missense variants and demonstrates that these variants result in the loss of the histone mark H3K9me3 over TEs, establishing a link between TRIM28 variants and neurodevelopmental delay.

Laura Castilla-Vallmanya, Ninoslav Pandiloski, Carrie Davis-Hansson et al. · 0 citations