Dr Rocio Rius
Clinical (Fellow)
Department of Paediatrics
40 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes
DOI: 10.1016/j.isci.2026.1154542026
Journal article
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
DOI: 10.1038/s41588-026-02551-92026
Conference Proceedings
O1 Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
DOI: 10.1136/jmg-2026-bsgm25.12026
Journal article
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development
DOI: 10.1038/s41431-025-01949-z2026
Journal article
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
DOI: 10.1038/s41588-026-02554-62026
Journal article
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
DOI: 10.1016/j.ajhg.2026.03.0102026
Journal article
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
DOI: 10.1038/s41586-026-10334-9
RECENT SCHOLARLY WORKS
2026
Journal article
P274: Bi-allelic IRAK4 variants are associated with severe neurological autoinflammation: An Expansion of the clinical phenotype
DOI: 10.1016/j.gimo.2026.1037682025
Journal article
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
DOI: 10.1038/s44321-025-00290-82025
Journal article
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
DOI: 10.1212/NXG.0000000000200291