Prof Martin Delatycki
Honorary Professorial Fellow
Department of Paediatrics
561 Scholarly works
6 Projects
HIGHLIGHTS
2026
Journal article
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model
DOI: 10.1038/s41419-026-09030-32026
Journal article
SP27 Platforms enabling reclassification of VUS in neuromuscular and neurogenetic diseases
DOI: 10.1016/j.nmd.2026.1069372026
Journal article
Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie's Mission.
DOI: 10.1016/j.jmoldx.2026.06.0092026
Research grants (international)
Using Diffusion-Weighted MRI Metric of the Auditory System as a Biomarker for Freidreich Ataxia Disease Progression
2026
Research contracts (non-grants)
Neuro-Otology: Diffusion MRI and Audiological Biomarkers for Friedreich Ataxia Disease Progression
2018
Journal article
Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
DOI: 10.12688/f1000research.13980.12017
Research Grant
Speech Treatment in Friedreich Ataxia
RECENT SCHOLARLY WORKS
2026
Journal article
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
DOI: 10.1111/cge.702132026
Journal article
Initial Review of Government-Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome.
DOI: 10.1002/pd.702512026
Journal article
Genomic Screening for Infants and Reproductive Adults.
DOI: 10.1146/annurev-med-042425-0147212026
Conference Proceedings
Cardiomyocyte Dysfunction is Modulated by PCDHGA10 in Friedreich Ataxia
DOI: 10.1016/j.hlc.2026.07.11482026
Journal article
Clarifying risk-factor associations with quantitative breast tumor features: a pooled analysis of 24 studies.
DOI: 10.1093/jnci/djag2442026
Journal article
Individuals' preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project.
DOI: 10.1038/s41431-026-02048-32026
Journal article
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol
DOI: 10.1136/bmjopen-2025-105100
RECENT PROJECTS
Research Grant
Communicating Genetic Information in Families: Practical, Legal, Social and Ethical Issues