# De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

*PRI Rank #5 · Topics and Trends in Most Cited RNA and protein synthesis mechanisms Papers, Class of 2026*

*Canonical URL: https://pri.pepkio.com/top-papers/rna-and-protein-synthesis-mechanisms/2026/rank-5*

| Field | Value |
| --- | --- |
| Rank | #5 |
| 18m citations | 89 |
| Journal | Nature |
| Year | 2024 |
| DOI | 10.1038/s41586-024-07773-7 |
| Corresponding authors | Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker |
| Institution | University of Oxford, United Kingdom |

**Ranking page:** [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)

**Paper link:** [10.1038/s41586-024-07773-7](https://doi.org/10.1038/s41586-024-07773-7)

## 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

## Cite this ranking

```
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
```