Chloe A. Cunningham
Melbourne, VIC, Australia
Last Updated: 09/26/2026
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Found 10 publications
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: May 18, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).
Journal: Molecular genetics and metabolism
Published: December 16, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
Journal: Nature
Published: April 24, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.
Journal: Neurology. Genetics
Published: January 17, 2025
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 22, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal: Nature
Published: April 07, 2024
Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.
Journal: Orphanet journal of rare diseases
Published: March 11, 2024
Showing 1-10 of 10
Last Updated: 09/26/2026