Dr Rocio Rius
Honorary Fellow
Department of Paediatrics
44 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
DOI: 10.1007/s00401-026-03017-22026
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
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
DOI: 10.1016/j.ajhg.2026.03.0102026
Journal article
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
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
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-bsgm25.1
RECENT SCHOLARLY WORKS
2026
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
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes (Nature Genetics, (2026), 58, 4, (761-773), 10.1038/s41588-026-02554-6)
DOI: 10.1038/s41588-026-02636-52026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.70191