Select Publications
Journal articles
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
,1993, 'Characterization of a truncated form of recombinant porcine growth hormone generated in vitro during solubilization of inclusion bodies', Protein Expression and Purification, 4, pp. 164 - 175, http://dx.doi.org/10.1006/prep.1993.1023
,1992, 'A relationship between the starting secondary structure of recombinant porcine growth hormone solubilised from inclusion bodies and the yield of native (monomeric) protein after in vitro refolding', FEBS Letters, 305, pp. 177 - 180, http://dx.doi.org/10.1016/0014-5793(92)80661-Y
,1992, 'Solubilization of growth hormone and other recombinant proteins from Escherichia coli inclusion bodies by using a cationic surfactant', Biochemical Journal, 285, pp. 871 - 879, http://dx.doi.org/10.1042/bj2850871
,1992, 'Spectrofluorimetric assessment of the surface hydrophobicity of proteins', Biochemical Journal, 282, pp. 589 - 593, http://dx.doi.org/10.1042/bj2820589
,1991, 'A single step method for the solubilization and refolding of recombinant protein from E. coli inclusion bodies.', Australian journal of biotechnology, 5
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