Select Publications
Journal articles
, 2026, 'Corrigendum to “The efficacy and safety of ketogenic diet therapy among adolescents and adults with drug resistant epilepsy: A systematic review and meta-analysis”(Seizure: European Journal of Epilepsy, (2026), 140, C, (39-51), (S1059131126001482), 10.1016/j.seizure.2026.05.018)', Seizure, 141, pp. 244 - 245, http://dx.doi.org/10.1016/j.seizure.2026.07.026
, 2026, 'The efficacy and safety of ketogenic diet therapy among adolescents and adults with drug resistant epilepsy: A systematic review and meta-analysis', Seizure, 140, pp. 39 - 51, http://dx.doi.org/10.1016/j.seizure.2026.05.018
, 2026, 'Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy', Annals of Neurology, 99, pp. 51 - 58, http://dx.doi.org/10.1002/ana.78071
, 2025, 'WWOX -Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype', Neurology, 105, http://dx.doi.org/10.1212/WNL.0000000000213883
, 2025, 'Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate', Ebiomedicine, 114, http://dx.doi.org/10.1016/j.ebiom.2025.105664
, 2025, 'Parental perspectives on dietary therapy for children with intractable epilepsy: factors influencing efficacy, tolerability and compliance', Journal of Neurology & Stroke, 15, pp. 22 - 27, http://dx.doi.org/10.15406/jnsk.2025.15.00616
, 2024, 'Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)', Annals of Neurology, 96, pp. 932 - 943, http://dx.doi.org/10.1002/ana.27041
, 2024, 'Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome', Ebiomedicine, 104, http://dx.doi.org/10.1016/j.ebiom.2024.105156
, 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
, 2023, 'Ketogenic Diets in Children With Intractable Epilepsy and its Effects on Gastrointestinal Function, Gut Microbiome, Inflammation, and Quality of Life', Journal of Pediatric Gastroenterology and Nutrition, 77, pp. 679 - 685, http://dx.doi.org/10.1097/MPG.0000000000003928
, 2023, 'Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant', American Journal of Medical Genetics Part C Seminars in Medical Genetics, 193, http://dx.doi.org/10.1002/ajmg.c.32056
, 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, 'WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk', Epilepsia, 64, pp. 1351 - 1367, http://dx.doi.org/10.1111/epi.17542
, 2023, 'Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice', Developmental Medicine and Child Neurology, 65, pp. 50 - 57, http://dx.doi.org/10.1111/dmcn.15308
, 2023, 'Urgent computed tomography angiography in paediatric stroke', Developmental Medicine and Child Neurology, 65, pp. 126 - 135, http://dx.doi.org/10.1111/dmcn.15285
, 2022, 'The need for improved management of status epilepticus in children in Australia: Time from seizure onset to treatment is consistently delayed', Journal of Paediatrics and Child Health, 58, pp. 261 - 266, http://dx.doi.org/10.1111/jpc.15697
, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
, 2021, 'P0006 / #556: ASSESSING THE LOGISTICS, FEASIBILITY AND CHALLENGES OF ESTABLISHING CONTINUOUS EEG SERVICE IN A CHILDREN’S ICU', Pediatric Critical Care Medicine, 22, pp. 40 - 40, http://dx.doi.org/10.1097/01.pcc.0000738368.99382.28
, 2020, 'Endovascular clot retrieval for acute ischaemic stroke due to basilar artery occlusion in childhood', Developmental Medicine and Child Neurology, 62, pp. 1221 - 1223, http://dx.doi.org/10.1111/dmcn.14449
, 2020, 'Medically resistant juvenile myasthenia gravis following thymectomy: Role for FDG PET/CT', Journal of Pediatric Surgery Case Reports, 59, http://dx.doi.org/10.1016/j.epsc.2020.101494
, 2019, 'Management of status epilepticus in children prior to medical retrieval: Deviations from the guidelines', Journal of Paediatrics and Child Health, 55, pp. 1458 - 1462, http://dx.doi.org/10.1111/jpc.14448
, 2019, 'Factors Affecting the Efficacy, Tolerability and Compliance of Dietary Therapy for Epilepsy- Four-Years Experience', Neurological Case Reports, 2, pp. 1010 - 1010, http://www.remedypublications.com/neurological-case-reports-abstract.php?aid=4936
, 2018, 'Cannabidiol for treating drug-resistant epilepsy in children: The New South Wales experience', Medical Journal of Australia, 209, pp. 217 - 221, http://dx.doi.org/10.5694/mja18.00023
, 2018, 'Myotonic dystrophy type 1: clinical manifestations in children and adolescents', Archives of Disease in Childhood, 104, pp. 48 - 52, http://dx.doi.org/10.1136/archdischild-2018-314837
, 2018, 'Outcomes of deviation from treatment guidelines in status epilepticus: A systematic review', Seizure, 58, pp. 147 - 153, http://dx.doi.org/10.1016/j.seizure.2018.04.005
, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
, 2018, 'Cannabis for paediatric epilepsy: challenges and conundrums', The Medical journal of Australia, http://dx.doi.org/10.5694/mja17.00699
, 2017, 'Risk Factors for Peri-Procedural Arterial Ischaemic Stroke in Children with Cardiac Disease', Pediatric Cardiology, 38, pp. 1385 - 1392, http://dx.doi.org/10.1007/s00246-017-1674-x
, 2017, 'Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
, 2016, 'Quality of life and excessive daytime sleepiness in children and adolescents with Myotonic dystrophy type 1', Sleep Medicine, 32, pp. 92 - 96, http://dx.doi.org/10.1016/j.sleep.2016.12.005
, 2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174
, 2016, 'Evaluation of an E-learning resource on approach to the first unprovoked seizure', Journal of Paediatrics and Child Health, 52, pp. 896 - 900, http://dx.doi.org/10.1111/jpc.13277
, 2015, 'Arterial ischemic stroke in children with cardiac disease', Neurology, 85, pp. 2053 - 2059, http://dx.doi.org/10.1212/WNL.0000000000002036
, 2015, 'Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.', World J Clin Pediatr, 4, pp. 66 - 80, http://dx.doi.org/10.5409/wjcp.v4.i4.66
, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
, 2015, 'Ten-year single-center experience of the ketogenic diet: Factors influencing efficacy, tolerability, and compliance', Journal of Pediatrics, 166, pp. 1030 - 1036.e1, http://dx.doi.org/10.1016/j.jpeds.2014.12.018
, 2015, 'Abstract T P375: Risk Factors for Peri-procedural Stroke in Children With Cardiac Disease', Stroke, 46, http://dx.doi.org/10.1161/str.46.suppl_1.tp375
, 2014, 'Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex', Journal of Pediatrics, 164, pp. 1195 - 1200, http://dx.doi.org/10.1016/j.jpeds.2013.12.053
, 2012, 'A genetic diagnostic approach to infantile epileptic encephalopathies', Journal of Clinical Neuroscience, 19, pp. 934 - 941, http://dx.doi.org/10.1016/j.jocn.2012.01.017
, 2011, 'Arterial Ischaemic Stroke in Children with Heart Disease: Experience in a Single Centre Over 17 Years', Heart, Lung and Circulation, 20, pp. S233 - S234, http://dx.doi.org/10.1016/j.hlc.2011.05.574
, 2009, '35. Preliminary findings: a retrospective study of ischaemic stroke in children with congenital and acquired cardiac disease', Journal of Clinical Neuroscience, 16, pp. 1536 - 1537, http://dx.doi.org/10.1016/j.jocn.2009.07.060
, 2008, 'Severe iron-deficiency anaemia in adolescents: Consider Helicobacter pylori infection', Journal of Paediatrics and Child Health, 44, pp. 647 - 650, http://dx.doi.org/10.1111/j.1440-1754.2008.01374.x
, 2008, 'Inherited myopathies and muscular dystrophies', Seminars in Neurology, 28, pp. 250 - 259, http://dx.doi.org/10.1055/s-2008-1062269
, 1998, 'Sustained-release delivery systems and their application for endoparasite control in animals', Journal of Controlled Release, 51, pp. 73 - 83, http://dx.doi.org/10.1016/S0168-3659(97)00160-0
, 1997, 'In vitro testing of a pulsatile delivery system and its in vivo application of immunisation against tetanus toxoid', Journal of Controlled Release, 47, pp. 205 - 219, http://dx.doi.org/10.1016/S0168-3659(97)01639-8
, 1995, 'Comparing the Refolding and Reoxidation of Recombinant Porcine Growth Hormone from a Urea Denatured State and from Escherichia Coli Inclusion Bodies', Biochemistry, 34, pp. 5773 - 5794, http://dx.doi.org/10.1021/bi00017a009
, 1994, 'A spectroscopic and equilibrium binding analysis of cationic detergent-protein interactions using soluble and insoluble recombinant porcine growth hormone', Biochimica Et Biophysica Acta Bba Protein Structure and Molecular, 1206, pp. 71 - 82, http://dx.doi.org/10.1016/0167-4838(94)90074-4
, 1994, 'Development of a pulsatile drug delivery system for veterinary pharmaceuticals', Proceedings of the Controlled Release Society, pp. 833 - 834
, 1993, 'Identification of cysteine-containing peptides during the peptide mapping of recombinant proteins', Peptide Research, 6, pp. 242 - 248