Prof Martin Delatycki
Honorary (Professorial Fellow)
Department of Paediatrics
549 Scholarly works
6 Projects
HIGHLIGHTS
2026
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
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model.
DOI: 10.1038/s41419-026-09030-32026
Journal article
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol
DOI: 10.1136/bmjopen-2025-1051002026
Research grants (international)
Neuro-Otology: Diffusion MRI and Audiological Biomarkers for Friedreich Ataxia Disease Progression
2026
Research grants (international)
Using Diffusion-Weighted MRI Metric of the Auditory System as a Biomarker for Freidreich 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
ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes
DOI: 10.1016/j.isci.2026.1154542026
Journal article
Efficacité et sécurité à long terme d’omaveloxolone chez des patients atteints d’ataxie de Friedreich (AF) : données sur 4 ans issues de l’extension en ouvert MOXIe en cours
DOI: 10.1016/j.neurol.2026.01.1852026
Journal article
Sex Ratios at Birth Following Non-Invasive Prenatal Testing in Victoria, Australia
DOI: 10.1002/pd.700762026
Journal article
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning
DOI: 10.1148/radiol.2513862026
Journal article
Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot
DOI: 10.1038/s44360-025-00020-x2026
Journal article
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia
DOI: 10.1136/bmjno-2026-0015612026
Journal article
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
DOI: 10.1016/j.ejpn.2025.12.004
RECENT PROJECTS
Research Grant
Communicating Genetic Information in Families: Practical, Legal, Social and Ethical Issues