Cas Simons

26PUBLICATIONS
371CO-AUTHORS
Evolutionary computationNeurogeneticsCell and nuclear divisionGenetic immunologyGenome structure and regulation
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (26)

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

|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 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan

|Apr 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

Pageof 5

Frequent Collaborators

10 joint publications

Rocio Rius

6 joint publications

Guy Helman

6 joint publications

Nicola Whiffin

6 joint publications

David R Thorburn