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Chloe Stutterd

11PUBLICATIONS
133CO-AUTHORS
NeurogeneticsCell and nuclear divisionGenetic immunologyNeurology and neuromuscular diseasesMedical infection agents (incl. prions)
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Journal

Publications (11)

Sort by Publication Date:
|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

|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 <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Apr 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

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Frequent Collaborators

6 joint publications

Rocio Rius

6 joint publications

Cas Simons

5 joint publications

Christel Depienne

5 joint publications

Nicola Whiffin

4 joint publications

Yuyang Chen

4 joint publications

Joachim De Jonghe

4 joint publications

Eloise Uebergang

4 joint publications

Ruebena Dawes

4 joint publications

Richard J Leventer

4 joint publications

Hyung Chul Kim

Frequent Collaborators

6 joint publications

Rocio Rius

6 joint publications

Cas Simons

5 joint publications

Christel Depienne

5 joint publications

Nicola Whiffin