Victorian Clinical Genetics Services

Recent papers from Victorian Clinical Genetics Services

1. Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic networkOrphanet Journal of Rare Diseases · 2026
2. PCR hyper-automation: an example of spinal muscular atrophy and severe combined immunodeficiency screeningClinical Chemistry and Laboratory Medicine (CCLM) · 2026
3. Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease, Chapter 12Internal Medicine Journal · 2026
4. Implementing genetic counselling and whole genome sequencing for young onset dementia within neurology and neuropsychiatry clinics: a RE-AIM framework analysisImplementation Science Communications · 2026
5. A deep learning framework for automated cervical spinal cord vertebral labeling and morphometric extraction from brain MRI with large-scale multicenter validationnpj Digital Medicine · 2026
6. Australian Rotavirus Surveillance Program: Annual Report, 2025Communicable Diseases Intelligence · 2026
7. Nationwide survey of testing practices for respiratory viruses in Australia in the post COVID-19 pandemic eraCommunicable Diseases Intelligence · 2026
8. Genetic Susceptibility to Anthracycline-Induced Cardiotoxicity in Australian Pediatric Cancer PatientsJACC Advances · 2026
9. The role of genomics in contemporary nephrology and the imminent horizons of genomic reanalysisJournal of Rare Diseases · 2026
10. Population-specific pediatric reference intervals for complete blood count in Vietnamese children and their impact on clinical classificationClinical Chemistry and Laboratory Medicine (CCLM) · 2026
11. The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 PregnanciesPrenatal Diagnosis · 2026
12. International experiences of genomic newborn screening: Lessons from over 10,800 newbornsThe American Journal of Human Genetics · 2026
13. Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPDEuropean Journal of Human Genetics · 2026
14. Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPDPrenatal Diagnosis · 2026
15. The hidden burden of structural variants in neurodegenerative and neuromuscular disordersScientific Reports · 2026
16. Paternal age and offspring bone health and body composition at 20 years: Findings from the Raine studyBone · 2026
17. A phase 3, randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of vosoritide in children with hypochondroplasia: CANOPY HCH-3 study designTherapeutic Advances in Endocrinology and Metabolism · 2026
18. Associations Between Paternal Sensitivity and Cognitive and Behavioural Outcomes in Preterm Children: An Individual Participant Data Meta‐AnalysisChild Care Health and Development · 2026
19. Genomic newborn screening, a healthcare system transformationTrends in Molecular Medicine · 2026
20. Scaling up GenomicsClinical Journal of the American Society of Nephrology · 2026