| A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 118 | 2018 |
| Agenesis of the corpus callosum: a clinical approach to diagnosis EE Palmer, D Mowat American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 112 | 2014 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 107 | 2020 |
| Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: evidence of clinical utility and cost effectiveness EE Palmer, D Schofield, R Shrestha, T Kandula, R Macintosh, JA Lawson, ... Molecular genetics & genomic medicine 6 (2), 186-199, 2018 | 91 | 2018 |
| DNM1 encephalopathy: A new disease of vesicle fission S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ... Neurology 89 (4), 385-394, 2017 | 89 | 2017 |
| Automated ASD detection using hybrid deep lightweight features extracted from EEG signals M Baygin, S Dogan, T Tuncer, PD Barua, O Faust, N Arunkumar, ... Computers in Biology and Medicine 134, 104548, 2021 | 71 | 2021 |
| THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ... The American Journal of Human Genetics 97 (2), 302-310, 2015 | 71 | 2015 |
| Asparagine synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine EE Palmer, J Hayner, R Sachdev, M Cardamone, T Kandula, P Morris, ... Molecular genetics and metabolism 116 (3), 178-186, 2015 | 59 | 2015 |
| Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability E Palmer, H Speirs, PJ Taylor, G Mullan, G Turner, S Einfeld, B Tonge, ... American journal of medical genetics Part A 164 (2), 377-385, 2014 | 59 | 2014 |
| Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ... The American Journal of Human Genetics 102 (5), 985-994, 2018 | 58 | 2018 |
| Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ... Neurology 96 (13), e1770-e1782, 2021 | 56 | 2021 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ... Molecular psychiatry 23 (2), 222-230, 2018 | 53 | 2018 |
| The molecular and phenotypic spectrum of IQSEC2‐related epilepsy A Zerem, K Haginoya, D Lev, L Blumkin, S Kivity, I Linder, C Shoubridge, ... Epilepsia 57 (11), 1858-1869, 2016 | 53 | 2016 |
| Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia JL Zambonin, A Bellomo, H Ben-Pazi, DB Everman, LM Frazer, ... Orphanet journal of rare diseases 12, 1-8, 2017 | 49 | 2017 |
| Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum M Smogavec, A Cleall, J Hoyer, D Lederer, MC Nassogne, EE Palmer, ... Journal of medical genetics 53 (12), 820-827, 2016 | 49 | 2016 |
| GaborPDNet: Gabor transformation and deep neural network for Parkinson’s disease detection using EEG signals HW Loh, CP Ooi, E Palmer, PD Barua, S Dogan, T Tuncer, M Baygin, ... Electronics 10 (14), 1740, 2021 | 46 | 2021 |
| Automated detection of ADHD: Current trends and future perspective HW Loh, CP Ooi, PD Barua, EE Palmer, F Molinari, UR Acharya Computers in Biology and Medicine 146, 105525, 2022 | 45 | 2022 |
| Autism spectrum disorder diagnostic assessments: improvements since publication of the National Autism Plan for Children E Palmer, C Ketteridge, JR Parr, G Baird, A Le Couteur Archives of Disease in Childhood 96 (5), 473-475, 2011 | 43 | 2011 |
| New insights into Brunner syndrome and potential for targeted therapy EE Palmer, M Leffler, C Rogers, M Shaw, R Carroll, J Earl, NW Cheung, ... Clinical genetics 89 (1), 120-127, 2016 | 42 | 2016 |
| STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies? V Lanoue, YJ Chai, JZ Brouillet, S Weckhuysen, EE Palmer, BM Collins, ... Neurology 93 (3), 114-123, 2019 | 41 | 2019 |
Dr.Prabal Datta BaruaAdjunct Professor ( AI in Healthcare & Education ), University of Southern QueenslandVerified email at usq.edu.au
