ORCID as entered in ROS

Select Publications
2023, 'International Undiagnosed Diseases Programs (UDPs): components and outcomes', Orphanet Journal of Rare Diseases, 18, http://dx.doi.org/10.1186/s13023-023-02966-1
,2023, '“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy', European Journal of Paediatric Neurology, 47, pp. 94 - 104, http://dx.doi.org/10.1016/j.ejpn.2023.09.010
,2023, '“I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare', European Journal of Human Genetics, 31, pp. 1057 - 1065, http://dx.doi.org/10.1038/s41431-023-01282-3
,2023, 'EpilepsyNet: Novel automated detection of epilepsy using transformer model with EEG signals from 121 patient population', Computers in Biology and Medicine, 164, http://dx.doi.org/10.1016/j.compbiomed.2023.107312
,2023, 'PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework', Nature Genetics, 55, pp. 1598 - 1607, http://dx.doi.org/10.1038/s41588-023-01469-w
,2023, 'Epilepsy detection in 121 patient populations using hypercube pattern from EEG signals', Information Fusion, 96, pp. 252 - 268, http://dx.doi.org/10.1016/j.inffus.2023.03.022
,2023, 'KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties', Annals of Neurology, 94, pp. 332 - 349, http://dx.doi.org/10.1002/ana.26662
,2023, 'QLBP: Dynamic patterns-based feature extraction functions for automatic detection of mental health and cognitive conditions using EEG signals', Chaos, Solitons and Fractals, 172, http://dx.doi.org/10.1016/j.chaos.2023.113472
,2023, 'OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum', Journal of Medical Genetics, 60, pp. 620 - 626, http://dx.doi.org/10.1136/jmg-2022-108678
,2023, 'PatchResNet: Multiple Patch Division–Based Deep Feature Fusion Framework for Brain Tumor Classification Using MRI Images', Journal of Digital Imaging, 36, pp. 973 - 987, http://dx.doi.org/10.1007/s10278-023-00789-x
,2023, 'ExHiF: Alzheimer's disease detection using exemplar histogram-based features with CT and MR images', Medical Engineering and Physics, 115, http://dx.doi.org/10.1016/j.medengphy.2023.103971
,2023, 'Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease', Pediatric Blood and Cancer, http://dx.doi.org/10.1002/pbc.30394
,2023, 'CCPNet136: automated detection of schizophrenia using carbon chain pattern and iterative TQWT technique with EEG signals', Physiological Measurement, 44, http://dx.doi.org/10.1088/1361-6579/acb03c
,2023, 'Novel favipiravir pattern-based learning model for automated detection of specific language impairment disorder using vowels', Neural Computing and Applications, 35, pp. 6065 - 6077, http://dx.doi.org/10.1007/s00521-022-07999-4
,2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular Psychiatry, 28, pp. 668 - 697, http://dx.doi.org/10.1038/s41380-022-01852-9
,2023, 'Automated accurate detection of depression using twin Pascal's triangles lattice pattern with EEG Signals', Knowledge-Based Systems, 260, http://dx.doi.org/10.1016/j.knosys.2022.110190
,2023, '“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia', American Journal of Medical Genetics, Part A, http://dx.doi.org/10.1002/ajmg.a.63470
,2023, 'Automated reading level classification model based on improved orbital pattern', Multimedia Tools and Applications, http://dx.doi.org/10.1007/s11042-023-17535-8
,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, 'Learning to make a difference for chILD: Value creation through network collaboration and team science', Pediatric Pulmonology, http://dx.doi.org/10.1002/ppul.26377
,2023, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.15695
,2023, 'Rare diseases: New approaches to diagnosis and care', Medicine Today, 24, pp. 69 - 76
,2023, 'Teachers’ Educational Experiences and Preparedness in Teaching Students with Autism', Asia-Pacific Education Researcher, http://dx.doi.org/10.1007/s40299-022-00709-7
,2022, 'Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABA
2022, '‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics', Health Expectations, 25, pp. 3175 - 3191, http://dx.doi.org/10.1111/hex.13625
,2022, 'Automated detection of pain levels using deep feature extraction from shutter blinds-based dynamic-sized horizontal patches with facial images', Scientific Reports, 12, http://dx.doi.org/10.1038/s41598-022-21380-4
,2022, 'Co-design, implementation, and evaluation of plain language genomic test reports', npj Genomic Medicine, 7, http://dx.doi.org/10.1038/s41525-022-00332-x
,2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, 1, http://dx.doi.org/10.1016/j.pecinn.2021.100014
,2022, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, 26, pp. 581 - 596, http://dx.doi.org/10.1177/13674935211033466
,2022, 'The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02317-6
,2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, 12, http://dx.doi.org/10.1136/bmjopen-2022-063249
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, 58, pp. 1722 - 1725, http://dx.doi.org/10.1111/jpc.16202
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, 58, pp. 1726 - 1728, http://dx.doi.org/10.1111/jpc.16187
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, 58, pp. 1718 - 1721, http://dx.doi.org/10.1111/jpc.16165
,2022, 'TMP19: A Novel Ternary Motif Pattern-Based ADHD Detection Model Using EEG Signals', Diagnostics, 12, http://dx.doi.org/10.3390/diagnostics12102544
,2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2
,2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, 9, pp. S32 - S35, http://dx.doi.org/10.1002/mdc3.13538
,2022, 'Novel nested patch-based feature extraction model for automated Parkinson's Disease symptom classification using MRI images', Computer Methods and Programs in Biomedicine, 224, http://dx.doi.org/10.1016/j.cmpb.2022.107030
,2022, 'Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood', Neurology, 99, pp. E221 - E233, http://dx.doi.org/10.1212/WNL.0000000000200715
,2022, 'Automated detection of ADHD: Current trends and future perspective', Computers in Biology and Medicine, 146, http://dx.doi.org/10.1016/j.compbiomed.2022.105525
,2022, 'EPSPatNet86: Eight-pointed star pattern learning network for detection ADHD disorder using EEG signals', Physiological Measurement, 43, http://dx.doi.org/10.1088/1361-6579/ac59dc
,2022, 'Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics, 30, pp. 258 - 259, http://dx.doi.org/10.1038/s41431-021-01007-4
,2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, 37, pp. 129 - 138, http://dx.doi.org/10.1016/j.ejpn.2022.01.022
,2022, 'The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review', Genetics in Medicine, 24, pp. 535 - 548, http://dx.doi.org/10.1016/j.gim.2021.11.013
,2022, 'Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders—A Review', International Journal of Environmental Research and Public Health, 19, http://dx.doi.org/10.3390/ijerph19031192
,2022, 'Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons', Neurobiology of Disease, 163, http://dx.doi.org/10.1016/j.nbd.2021.105587
,2022, 'Artificial intelligence assisted tools for the detection of anxiety and depression leading to suicidal ideation in adolescents: a review', Cognitive Neurodynamics, http://dx.doi.org/10.1007/s11571-022-09904-0
,2022, 'Genetic testing for epilepsy: Why and when to think about it', Medicine Today, 23, pp. 59 - 67
,2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 64, pp. 95 - 104, http://dx.doi.org/10.1111/dmcn.14971
,2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001
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