Dr Chloe Cunningham
Honorary (Senior Fellow)
Department of Paediatrics
53 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
DOI: 10.1016/j.ymgme.2026.1101542026
Journal article
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
DOI: 10.1038/s41586-026-10334-92026
Journal article
Efficacy and Safety of Zilganersen, an Investigational RNA-targeted Antisense Therapy, in People Living with Alexander Disease: Results from a Pivotal Study (PL5.003)
DOI: 10.1212/wnl.00000000002132072026
Journal article
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes (Nature Genetics, (2026), 58, 4, (761-773), 10.1038/s41588-026-02554-6)
DOI: 10.1038/s41588-026-02636-52026
Journal article
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
DOI: 10.1038/s41588-026-02554-62026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912025
Journal article
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
DOI: 10.1212/NXG.0000000000200291
RECENT SCHOLARLY WORKS
2025
Journal article
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
DOI: 10.1101/gr.279634.1242024
Journal article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
DOI: 10.1186/s13023-024-03297-52024
Journal article
Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials
DOI: 10.1186/s13023-024-03320-9