Prof John Christodoulou
Chair in Genomic Medicine
Department of Paediatrics
589 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
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism
DOI: 10.1038/s41586-026-10515-62026
Journal article
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
DOI: 10.1002/jimd.702172026
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-w2024
Research grants (ARC, NHMRC, MRFF)
OMIX3: High-Capacity Integrated Multi-Omics
RECENT SCHOLARLY WORKS
2026
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.703702026
Journal article
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
Journal article
Mainstreaming genomic testing for mitochondrial disease in Australia
DOI: 10.1038/s41431-026-02053-6