Author

Sylvie Mazoyer

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Open access Aug 2026

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes that produce snRNAs are increasingly recognised as major contributors to rare disorders, including neurodevelopmental dis...

Elston N. D'souza, A. Blakes, Robin Paluch et al. · medRxiv · 0 citations

Open access Aug 2026

u4atac regulates cilium biogenesis through splicing of the minor intron of tmem107l and rfx7b in zebrafish developing brain

These findings establish TMEM107 and RFX7 as key components of the molecular pathway linking U4atac dysfunction to ciliary defects and impaired brain development, providing new physiopathological insights and therapeutic perspectives for RNU4ATAC-related disorders.

Cyril Jovani, A. Rabec, Marianne Gaubert et al. · bioRxiv · 0 citations