Dr Rocio Rius
Honorary Fellow
Department of Paediatrics
47 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912026
Journal article
SECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy
DOI: 10.1016/j.hlc.2026.07.0262026
Journal article
Automated reanalysis of genomic data for rare disease diagnostics at scale
DOI: 10.1038/s41591-026-04477-52026
Journal article
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
DOI: 10.1002/jimd.702172026
Journal article
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
DOI: 10.1038/s41586-026-10334-92026
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
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
DOI: 10.1007/s00401-026-03017-2
RECENT SCHOLARLY WORKS
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
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/jmd2.70092