De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
#5PRI RANKED
Most Cited Paper
in RNA and protein synthesis mechanisms
18 Months Post-Publication
Class of 2026
“De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome”
A research intelligence initiative by Pepkio
pri.pepkio.com/top-papers/rna-and-protein-synthesis-mechanisms/2026/
Topics
RNU4-2 · U4 small nuclear RNA · neurodevelopmental disorders · de novo variants · U4/U6.U5 tri-snRNP complex · major spliceosome · n.64_65insT · T-loop · stem III · U4/U6 snRNA duplex · maternal allele bias · 5' splice-site · spliceosome activation · non-coding RNA · genome sequencing cohorts · RNA sequencing · RNU4-1 · developing human brain expression
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Pepkio Research Index (PRI). Topics and Trends in Most Cited RNA and protein synthesis mechanisms Papers, Class of 2026. https://pri.pepkio.com/top-papers/rna-and-protein-synthesis-mechanisms/2026. Accessed 2026-07-15. Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459