ORCID as entered in ROS

Select Publications
2025, 'Structural characterization of antibody-responses following Zolgensma treatment for AAV capsid engineering to expand patient cohorts', Nature Communications, 16, http://dx.doi.org/10.1038/s41467-025-59088-4
,2025, 'Diagnostic utility of threshold tracking TMS paradigms in early amyotrophic lateral sclerosis', Clinical Neurophysiology, 174, pp. 105 - 113, http://dx.doi.org/10.1016/j.clinph.2025.03.044
,2025, '“You get left behind and lost in a complex world of rare care”: equity in access to rare disease care—learnings from the Australian Rare Disease Awareness, Education, Support, and Training (RArEST) project', eBioMedicine, 115, http://dx.doi.org/10.1016/j.ebiom.2025.105710
,2025, 'An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening', International Journal of Neonatal Screening, 11, pp. 32 - 32, http://dx.doi.org/10.3390/ijns11020032
,2025, 'Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: A mixed methods cross-sectional study', Archives of Disease in Childhood, 110, pp. 308 - 315, http://dx.doi.org/10.1136/archdischild-2024-327914
,2025, 'Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum', Annals of Neurology, 97, pp. 611 - 628, http://dx.doi.org/10.1002/ana.27087
,2025, 'A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.', J Neuromuscul Dis, pp. 22143602241313113, http://dx.doi.org/10.1177/22143602241313113
,2025, 'Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials', Neurotherapeutics, 22, http://dx.doi.org/10.1016/j.neurot.2025.e00546
,2025, 'Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action', Pediatric Neurology, 164, pp. A6 - A7, http://dx.doi.org/10.1016/j.pediatrneurol.2025.02.005
,2025, 'Measuring Broad and Meaningful Impacts With Patient-Reported Outcomes in Spinal Muscular Atrophy as a Framework for Neuromuscular Disorders', Muscle and Nerve, 71, pp. 287 - 289, http://dx.doi.org/10.1002/mus.28335
,2025, ''Fighting every day': Exploring caregiver quality of life and perspectives on healthcare services for children with dementia - A cross-sectional, mixed-methods study', Archives of Disease in Childhood, pp. archdischild-2024-328011, http://dx.doi.org/10.1136/archdischild-2024-328011
,2025, 'Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.16273
,2025, 'Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action', Journal of Child Neurology, http://dx.doi.org/10.1177/08830738251331359
,2025, 'Genetic testing in cerebral palsy with clinical and neuroimaging variables', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.16323
,2025, 'Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy', Pathology, http://dx.doi.org/10.1016/j.pathol.2025.02.004
,2024, 'Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients with Spinal Muscular Atrophy: The Phase 3b SMART Study', Neurology, 104, http://dx.doi.org/10.1212/WNL.0000000000210268
,2024, 'A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study', The Lancet Regional Health - Western Pacific, 53, http://dx.doi.org/10.1016/j.lanwpc.2024.101237
,2024, 'Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study', Muscle and Nerve, 70, pp. 1247 - 1256, http://dx.doi.org/10.1002/mus.28267
,2024, 'Nationwide, Couple-Based Genetic Carrier Screening', New England Journal of Medicine, 391, pp. 1877 - 1889, http://dx.doi.org/10.1056/NEJMoa2314768
,2024, 'Clinician Perceptions of Family-Centered Care in Pediatric and Congenital Heart Settings', JAMA Network Open, 7, http://dx.doi.org/10.1001/jamanetworkopen.2024.22104
,2024, '‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases', Health Expectations, 27, http://dx.doi.org/10.1111/hex.14063
,2024, 'RAINBOWFISH: Primary Efficacy and Safety Data in Risdiplam-treated Infants with Presymptomatic Spinal Muscular Atrophy (SMA) (S37.006)', Neurology, 102, http://dx.doi.org/10.1212/wnl.0000000000205694
,2024, 'Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy', Muscle and Nerve, 69, pp. 448 - 458, http://dx.doi.org/10.1002/mus.28062
,2024, 'Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders', The Lancet Regional Health - Western Pacific, 45, http://dx.doi.org/10.1016/j.lanwpc.2024.101049
,2024, '‘Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives', PLoS ONE, 19, pp. 1 - 13, http://dx.doi.org/10.1371/journal.pone.0299336
,2024, 'Deciphering spinal muscular atrophy: the need for more research', The Lancet Neurology, 23, pp. 134 - 136, http://dx.doi.org/10.1016/S1474-4422(23)00502-1
,2024, 'Life-Saving Treatments for Spinal Muscular Atrophy Global Access and Availability', Neurology: Clinical Practice, 14, http://dx.doi.org/10.1212/CPJ.0000000000200224
,2024, 'Clinician Understanding, Acceptance and utilization of Ketogenic diet therapy for epilepsy in Australia and New Zealand: An online survey', Epilepsy and Behavior Reports, 28, http://dx.doi.org/10.1016/j.ebr.2024.100711
,2024, 'Getting Wheels: development and evaluation of a psychoeducational resource for parents of children with a neuromuscular condition following recommendation of wheelchair equipment', Disability and Rehabilitation: Assistive Technology, 19, pp. 2630 - 2640, http://dx.doi.org/10.1080/17483107.2024.2310282
,2024, 'The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy', European Journal of Paediatric Neurology, 48, pp. 67 - 68, http://dx.doi.org/10.1016/j.ejpn.2023.11.006
,2024, '179P Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic SMA: long-term follow-up study', Neuromuscular Disorders, 43, pp. 104441.614 - 104441.614, http://dx.doi.org/10.1016/j.nmd.2024.07.623
,2023, 'Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers', Pediatric Neurology, 149, pp. 75 - 83, http://dx.doi.org/10.1016/j.pediatrneurol.2023.09.006
,2023, 'Gene therapy-based strategies for spinal muscular atrophy—an Asia-Pacific perspective', Molecular and Cellular Pediatrics, 10, http://dx.doi.org/10.1186/s40348-023-00171-5
,2023, 'The psychosocial impact of childhood dementia on children and their parents: a systematic review', Orphanet Journal of Rare Diseases, 18, http://dx.doi.org/10.1186/s13023-023-02859-3
,2023, 'Emerging role for sphingolipids in the genetics of amyotrophic lateral sclerosis', Journal of Neurology, Neurosurgery and Psychiatry, 95, pp. 101 - 102, http://dx.doi.org/10.1136/jnnp-2023-332719
,2023, 'The Australian landscape of newborn screening in the genomics era', Rare Disease and Orphan Drugs Journal, 2, http://dx.doi.org/10.20517/rdodj.2023.30
,2023, 'Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study', Neuropediatrics, 54, pp. s1 - s32, http://dx.doi.org/10.1055/s-0043-1777167
,2023, 'The collective burden of childhood dementia: a scoping review', Brain, 146, pp. 4446 - 4455, http://dx.doi.org/10.1093/brain/awad242
,2023, 'Prospective assessment of vincristine-induced peripheral neuropathy in paediatric acute lymphoblastic leukemia', Clinical Neurophysiology, 154, pp. 157 - 168, http://dx.doi.org/10.1016/j.clinph.2023.08.002
,2023, 'Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales', JIMD Reports, 64, pp. 327 - 336, http://dx.doi.org/10.1002/jmd2.12389
,2023, 'Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology', Brain, 146, pp. E65 - E66, http://dx.doi.org/10.1093/brain/awad061
,2023, 'Oculomotor Apraxia as an Early Presenting Sign of Juvenile-Onset Huntington's Disease', Movement Disorders Clinical Practice, 10, pp. S12 - S14, http://dx.doi.org/10.1002/mdc3.13775
,2023, 'Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years', Brain and Development, 45, pp. 401 - 407, http://dx.doi.org/10.1016/j.braindev.2023.03.002
,2023, 'Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy', Molecular Therapy, 31, pp. 1979 - 1993, http://dx.doi.org/10.1016/j.ymthe.2023.03.032
,2023, 'The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers', Genes, 14, http://dx.doi.org/10.3390/genes14071403
,2023, 'CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation', eBioMedicine, 91, http://dx.doi.org/10.1016/j.ebiom.2023.104589
,2023, '“The usual challenges of work are all magnified”: Australian paediatric health professionals’ experiences during the COVID-19 pandemic', International Journal of Cardiology Congenital Heart Disease, 11, http://dx.doi.org/10.1016/j.ijcchd.2022.100434
,2023, 'Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study', The Lancet Child and Adolescent Health, 7, pp. 159 - 170, http://dx.doi.org/10.1016/S2352-4642(22)00342-X
,2023, 'Childhood Dementia: A Collective Clinical Approach to Advance Therapeutic Development and Care', Pediatric Neurology, 139, pp. 76 - 85, http://dx.doi.org/10.1016/j.pediatrneurol.2022.11.015
,2023, 'Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective', Expert Review of Neurotherapeutics, 23, pp. 571 - 586, http://dx.doi.org/10.1080/14737175.2023.2218549
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