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M. Delatycki · SciRah

Researcher profile · Semantic Scholar

M. Delatycki

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M. Delatycki — researcher profile on SciRah

h-index: 70
Works: 599
Citations: 19K

Most-cited papers

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2023American Journal of Human Genetics60 citations Open access
Semantic Scholar
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
David R. Lynch, A. Goldsberry, C. Rummey, J. Farmer +13 more
2023Annals of Clinical and Translational Neurology51 citations Open access
Semantic Scholar
Nationwide, Couple-Based Genetic Carrier Screening.
Edwin P. Kirk, M. Delatycki, Alison D. Archibald, E. Tutty +77 more
2024New England Journal of Medicine42 citations Open access
Semantic Scholar
Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
J. Tiller, Andrew Bakshi, Grace Dowling, L. Keogh +8 more
2023European Journal of Human Genetics35 citations Open access
Semantic Scholar
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A. Cortese, S. Beecroft, S. Facchini, R. Curro' +80 more
2023Nature Communications30 citations Open access
Semantic Scholar
New and Emerging Drug and Gene Therapies for Friedreich Ataxia
Varlli Scott, M. Delatycki, Geneieve Tai, L. Corben
2024CNS Drugs21 citations Open access
Semantic Scholar
A global perspective on research advances and future challenges in Friedreich ataxia
E. Indelicato, M. Delatycki, Jennifer M. Farmer, M. C. França +3 more
2025Nature Reviews Neurology20 citations
Semantic Scholar
Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver
D. Crawford, G. Ramm, Kim R. Bridle, A. Nicoll +2 more
2023Hepatology International18 citations Open access
Semantic Scholar
An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?
Tianjiao Wang, P. Scuffham, Joshua M Byrnes, M. Delatycki +1 more
2023Prenatal Diagnosis16 citations Open access
Semantic Scholar
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
C. Rummey, I. Harding, M. Delatycki, Geneieve Tai +2 more
2022Annals of Clinical and Translational Neurology15 citations Open access
Semantic Scholar
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
L. Corben, Eliza Blomfield, Geneieve Tai, H. Bilal +4 more
2024Cerebellum13 citations Open access
Semantic Scholar
Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
Rebecca Kerestes, Hannah Cummins, N. Georgiou-Karistianis, Louisa P. Selvadurai +4 more
2023Journal of Neurology12 citations Open access
Semantic Scholar
Identification and Re-consent of Existing Cord Blood Donors for Creation of Induced Pluripotent Stem Cell Lines for Potential Clinical Applications
K. Abberton, T. McDonald, M. Diviney, R. Holdsworth +6 more
2022Stem Cells Translational Medicine12 citations Open access
Semantic Scholar
Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study
N. Georgiou-Karistianis, L. Corben, E. F. Lock, H. Bujalka +30 more
2025Annals of Neurology11 citations Open access
Semantic Scholar
Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, Safety, and Future Perspectives
Saba Naghipour, L. Corben, Amy J. Hulme, M. Dottori +3 more
2024Movement Disorders11 citations Open access
Semantic Scholar
Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial
Sarah C. Milne, Melissa Roberts, Shannon Williams, Jillian Chua +22 more
2024Annals of Neurology11 citations Open access
Semantic Scholar
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses
R. Rius, A. Compton, Naomi Baker, S. Balasubramaniam +63 more
2023medRxiv11 citations Open access
Semantic Scholar
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
Leslie J Roberts, Michael McVeigh, L. Seiderer, I. Harding +3 more
2022Neurology: Genetics11 citations Open access
Semantic Scholar
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
H. Rafehi, L. Fearnley, Justin L. Read, P. Snell +38 more
2025Genome Research10 citations Open access
Semantic Scholar
Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia
Ian H. Harding, Muhammad Ikhsan Nur Karim, Louisa P. Selvadurai, L. Corben +6 more
2024Movement Disorders10 citations Open access
Semantic Scholar
“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance
Cassandra Muller, L. Gallacher, L. Keogh, A. McInerney-Leo +9 more
2024European Journal of Human Genetics10 citations Open access
Semantic Scholar
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery
Justin L. Read, K. Davies, G. Thompson, M. Delatycki +1 more
2023Emerging Topics in Life Sciences10 citations Open access
Semantic Scholar
Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy.
N. Flowers, Clare J. Love, K. Scarff, O. Giouzeppos +3 more
2025Clinical Chemistry8 citations Open access
Semantic Scholar
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark +84 more
2024European Journal of Human Genetics8 citations Open access
Semantic Scholar
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions
Lucinda Freeman, Alison D. Archibald, L. Dive, M. Delatycki +3 more
2024European Journal of Human Genetics8 citations Open access
Semantic Scholar
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
Ian R. Woodcock, G. Tachas, N. Desem, P. J. Houweling +17 more
2024PLoS ONE8 citations Open access
Semantic Scholar
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy
P. Dimartino, Mariia Zadorozhna, V. Yumiceba, Anna Basile +20 more
2024Annals of Neurology8 citations Open access
Semantic Scholar
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
Sophie E. Bouffler, Ling-hui Lee, Fiona Lynch, M. Martyn +16 more
2023BMJ Open8 citations Open access
Semantic Scholar
Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness
Lucinda Freeman, Lisa Bristowe, E. Kirk, M. Delatycki +1 more
2023Journal of Genetic Counseling8 citations Open access
Semantic Scholar
Free‐Water Imaging in Friedreich Ataxia Using Multi‐Compartment Models
L. Fernandez, L. Corben, H. Bilal, M. Delatycki +2 more
2023Movement Disorders8 citations Open access
Semantic Scholar
Inter-rater reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale and Functional Independence Measure motor domain in individuals with hereditary cerebellar ataxia.
Sarah C. Milne, Melissa Roberts, Hannah L. Ross, Amy Robinson +9 more
2023Archives of Physical Medicine and Rehabilitation8 citations
Semantic Scholar
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis
Tianjiao Wang, D. Kiss, K. Mcfadden, J. Byrnes +3 more
2023Expert Review of Molecular Diagnostics8 citations Open access
Semantic Scholar
Offering complex genomic screening in acute pediatric settings: family decision-making and outcomes.
M. Martyn, Ling Lee, Alli Jan, Rigan Tytherleigh +17 more
2024Genetics in Medicine7 citations Open access
Semantic Scholar
Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening
K. Scarff, N. Flowers, Clare J. Love, A. Archibald +5 more
2023Prenatal Diagnosis7 citations
Semantic Scholar
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, A. Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen +146 more
2025Nature Genetics6 citations Open access
Semantic Scholar
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, H. Lesmann +66 more
2025American Journal of Human Genetics6 citations Open access
Semantic Scholar
Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot
P. Lacaze, J. Tiller, Adam Brotchie, T. Nguyen-Dumont +35 more
2026Nature Health5 citations Open access
Semantic Scholar
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
K. Davies, H. Rafehi, L. Fearnley, P. Snell +16 more
2025Cerebellum5 citations
Semantic Scholar
Automated Deep Learning–based Segmentation of the Dentate Nucleus Using Quantitative Susceptibility Mapping MRI
D. H. Shiraishi, Susmita Saha, I. Adanyeguh, S. Cocozza +33 more
2025Radiology: Artificial Intelligence5 citations Open access
Semantic Scholar
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
Edwin P. Kirk, Linda Mundy, Eric Lee, B. Lundie +17 more
2025Pathology (Sydney)5 citations
Semantic Scholar
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
M. Wallis, Simon Bodek, J. Munro, H. Rafehi +33 more
2024Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
Gradient of microstructural damage along the dentato‐thalamo‐cortical tract in Friedreich ataxia
S. Cocozza, Sara Bosticardo, Matteo Battocchio, L. Corben +13 more
2024Annals of Clinical and Translational Neurology5 citations Open access
Semantic Scholar
How Great a Risk Do You Take? A Qualitative Study Exploring Attitudes of Individuals with Friedreich Ataxia Toward Gene Therapy
Katherine Lieschke, Varlli Scott, M. Delatycki, S. Lewis +3 more
2023Human Gene Therapy5 citations
Semantic Scholar
Auditory neuropathy in mice and humans with Friedreich ataxia
G. Rance, P. Carew, L. Winata, P. Sale +2 more
2023Annals of Clinical and Translational Neurology5 citations Open access
Semantic Scholar
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C. Stutterd, A. Vanderver, P. Lockhart, G. Helman +24 more
2022European Journal of Medical Genetics5 citations Open access
Semantic Scholar
A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1
G. Rance, Alice Maier, J. Zanin, K. Haebich +5 more
2022Neurological Sciences5 citations Open access
Semantic Scholar
Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double‐blind placebo‐controlled crossover trial
Ian R. Woodcock, K. de Valle, Anita Cairns, Z. Davidson +10 more
2025Pharmacotherapy4 citations Open access
Semantic Scholar
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.
Limin Li, M. Menezes, M. Smith, Robin Forbes +5 more
2024Neuromuscular Disorders4 citations
Semantic Scholar
Endophenotyping social cognition in the broader autism phenotype
Emmanuel Peng Kiat Pua, Tarishi Desai, Cherie C. Green, Krysta J. Trevis +4 more
2023Autism Research4 citations Open access
Semantic Scholar
Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxia
Adam P. Vogel, P. Maruff, Hannah Reece, H. Carter +5 more
2023medRxiv4 citations Open access
Semantic Scholar

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