Prof Martin Delatycki
Honorary (Professorial Fellow)
Department of Paediatrics
555 Scholarly works
6 Projects
HIGHLIGHTS
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
Research contracts (non-grants)
Neuro-Otology: Diffusion MRI and Audiological Biomarkers for Friedreich Ataxia Disease Progression
2026
Journal article
Cardiomyocyte Dysfunction is Modulated by PCDHGA10 in Friedreich Ataxia
DOI: 10.1016/j.hlc.2026.07.11482026
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
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
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
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.251386
RECENT PROJECTS
Research Grant
Communicating Genetic Information in Families: Practical, Legal, Social and Ethical Issues