Chloe Stutterd

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

|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 RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Nov 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic

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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