Prof John Christodoulou
Chair in Genomic Medicine
Department of Paediatrics
586 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Generation, heterozygous repair and characterization of human iPSC lines from two individuals with KIF1A-Associated Neurological Disorder
DOI: 10.1016/j.scr.2026.1040252026
Journal article
Editorial overview: Folding, binding and protein design
DOI: 10.1016/j.sbi.2026.1033062026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
Journal article
A flexible synthetic diet platform for Drosophila nutrigenomics.
DOI: 10.1186/s12263-026-00808-w2026
Journal article
Structures of protein folding intermediates on the ribosome
DOI: 10.1038/s41594-026-01814-72026
Journal article
Tacrolimus in Pediatric Solid Organ Transplant Recipients: A Retrospective Cohort Study
DOI: 10.1111/petr.703702024
Research grants (ARC, NHMRC, MRFF)
OMIX3: High-Capacity Integrated Multi-Omics
RECENT SCHOLARLY WORKS
2026
Journal article
Mainstreaming genomic testing for mitochondrial disease in Australia
DOI: 10.1038/s41431-026-02053-62026
Journal article
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
Journal article
Causality, severity and avoidability of adverse drug reactions in children: An 11-year review
DOI: 10.1002/bcp.703652026
Journal article
Navigating ethical, legal and social implications in genomic newborn screening
DOI: 10.1038/s41576-026-00936-4