Publications by authors named "Chloe Cunningham"

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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, Michelle G de Silva, Aída Lemes, Chloe Cunningham

Neurol Genet· October 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Chloe A Cunningham

medRxiv· April 2025

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Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G de Silva, Jan Hodgson

Orphanet J Rare Dis· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Chloe A Cunningham

Nature· August 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Chloe A Cunningham

medRxiv· April 2024

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