Rocio Rius

24PUBLICATIONS
301CO-AUTHORS
Evolutionary computationGene mappingNeurogeneticsCell and nuclear divisionMedical molecular engineering of nucleic acids and proteins
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Publications (24)

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|Sep 27, 2025
PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development.

Laura Wedd, Yvonne Hort, Chirag Patel

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Frequent Collaborators

12 joint publications

John Christodoulou

10 joint publications

Cas Simons

10 joint publications

David R Thorburn

7 joint publications

Nicola Whiffin