Prof John Christodoulou
Chair in Genomic Medicine
Department of Paediatrics
582 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
Tacrolimus in Pediatric Solid Organ Transplant Recipients: A Retrospective Cohort Study.
DOI: 10.1111/petr.703702026
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/s41576-026-00936-42024
Research grants (ARC, NHMRC, MRFF)
OMIX3: High-Capacity Integrated Multi-Omics
RECENT SCHOLARLY WORKS
2026
Journal article
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
DOI: 10.1212/WNL.00000000002146452026
Journal article
Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2
DOI: 10.1073/pnas.25221111232026
Journal article
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
DOI: 10.64898/2026.03.05.263437942026
Journal article
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
DOI: 10.1016/j.jmoldx.2025.11.006