Cas Simons

26PUBLICATIONS

371CO-AUTHORS

Evolutionary computationNeurogeneticsCell and nuclear divisionGenetic immunologyGenome structure and regulation

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Publications (26)

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|Jun 24, 2026

Automated reanalysis of genomic data for rare disease diagnostics at scale.

|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

|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

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Frequent Collaborators

10 joint publications

Rocio Rius

Guy Helman

Nicola Whiffin

David R Thorburn

Christel Depienne

Chloe Cunningham

Yuyang Chen

Eloise Uebergang

John Christodoulou

Richard Leventer

Frequent Collaborators

10 joint publications

Rocio Rius

6 joint publications

Guy Helman

6 joint publications

Nicola Whiffin

6 joint publications

David R Thorburn