Hunter Genetics

Recent papers from Hunter Genetics

1. Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic networkOrphanet Journal of Rare Diseases · 2026
2. Long‐Read Sequencing Resolves Phase in Prenatal Congenital Chloride Diarrhea Resulting From Inherited and de novo SLC26A3 VariantsPrenatal Diagnosis · 2026
3. Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic DuplicationMolecular Genetics & Genomic Medicine · 2026
4. Quality of life of individuals with familial intellectual disability and their carers and spousesBJPsych Open · 2026
5. MSL2 orchestrates oligodendrocyte precursor cell cycle via H3K4me3 to prevent white matter defects in neurodevelopmental disordersExperimental & Molecular Medicine · 2026
6. Clinical Epigenomics in Rare Diseases: Interpreting DNA Methylation EpisignaturesMolecular Genetics & Genomic Medicine · 2026
7. Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?European Journal of Human Genetics · 2026
8. Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease2026
9. AI-Guided Systems Neurogenomics in Neurodevelopmental DisordersGenes · 2026
10. The function of Mgs1/WRNIP1 in genome maintenanceFrontiers in Molecular Biosciences · 2026
11. The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndromeGenome Medicine · 2026
12. Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndromeBMC Medical Genomics · 2026
13. Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infantsGenetics in Medicine · 2026
14. When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variantsEuropean Journal of Human Genetics · 2026
15. Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision TherapeuticsGenes · 2026
16. Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disabilityBMJ Open · 2026
17. Long Term Pain Reduction and Explantation Rates of Spinal Cord Stimulation: A Systematic Review and Meta-AnalysisNeuromodulation Technology at the Neural Interface · 2026
18. ID #1068 Investigating Genome-Wide Germline Variants in Paediatric Patients with CNS TumourNeuro-Oncology Pediatrics · 2026
19. Epigenetic equilibrium in chromatinopathies: network instability in neurodevelopmentFrontiers in Neurology · 2026
20. Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentNature Communications · 2026