Dr Chloe Cunningham
Honorary (Senior Fellow)
Department of Paediatrics
47 Scholarly works
0 Projects
HIGHLIGHTS
2025
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.00000000002002912025
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/s13023-024-03320-92024
Journal article
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
DOI: 10.1038/s41586-024-07773-72024
Journal article
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
DOI: 10.1016/j.ymgme.2024.1085212024
Journal article
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
DOI: 10.1101/2024.04.07.24305438
RECENT SCHOLARLY WORKS
2024
Journal article
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
DOI: 10.1016/j.ajhg.2024.01.0132024
Journal article
Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy
DOI: 10.1016/j.ymgme.2023.1079762023
Journal article
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
DOI: 10.1038/s41431-022-01232-5