Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Rocio Rius

24PUBLICATIONS
301CO-AUTHORS
Evolutionary computationGene mappingNeurogeneticsCell and nuclear divisionMedical molecular engineering of nucleic acids and proteins
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (24)

Sort by Publication Date:
|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.

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|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

Pageof 4

Frequent Collaborators

12 joint publications

John Christodoulou

10 joint publications

Cas Simons

10 joint publications

David R Thorburn

7 joint publications

Nicola Whiffin

7 joint publications

Alison G Compton

7 joint publications

Christel Depienne

6 joint publications

Anne O'Donnell-Luria

6 joint publications

Chloe Cunningham

6 joint publications

Yuyang Chen

5 joint publications

Richard Leventer

Frequent Collaborators

12 joint publications

John Christodoulou

10 joint publications

Cas Simons

10 joint publications

David R Thorburn

7 joint publications

Nicola Whiffin