Prof John Christodoulou
Chair in Genomic Medicine
Department of Paediatrics
578 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.
DOI: 10.1002/ajmg.a.701912026
Journal article
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.
DOI: 10.1038/s41431-026-02108-82026
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/s41576-026-00936-42026
Journal article
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
DOI: 10.1212/WNL.00000000002146452024
Research grants (ARC, NHMRC, MRFF)
OMIX3: High-Capacity Integrated Multi-Omics
RECENT SCHOLARLY WORKS
2026
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.2025.11.0062026
Journal article
Functional Characterization of a Novel GPC3 Missense Variant in Simpson–Golabi–Behmel Syndrome
DOI: 10.1002/ajmg.a.64287