| Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis N Trump, A McTague, H Brittain, A Papandreou, E Meyer, A Ngoh, ... Journal of medical genetics 53 (5), 310-317, 2016 | 230 | 2016 |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 214 | 2017 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 166 | 2020 |
| Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy A McTague, U Nair, S Malhotra, E Meyer, N Trump, EV Gazina, ... Neurology 90 (1), e55-e66, 2018 | 108 | 2018 |
| Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period M Sframeli, A Sarkozy, M Bertoli, G Astrea, J Hudson, M Scoto, R Mein, ... Neuromuscular Disorders 27 (9), 793-803, 2017 | 95 | 2017 |
| GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy A Papandreou, A McTague, N Trump, G Ambegaonkar, A Ngoh, E Meyer, ... Developmental Medicine & Child Neurology 58 (4), 416-420, 2016 | 74 | 2016 |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 68 | 2020 |
| Delineation of the movement disorders associated with FOXG1 mutations A Papandreou, RB Schneider, EF Augustine, J Ng, K Mankad, E Meyer, ... Neurology 86 (19), 1794-1800, 2016 | 58 | 2016 |
| Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling P Kumar, A Lim, SN Hazirah, CJH Chua, A Ngoh, SL Poh, TH Yeo, J Lim, ... Nature Neuroscience 25 (7), 956-966, 2022 | 35 | 2022 |
| Proinflammatory IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy P Kumar, DCW Shih, A Lim, B Paleja, S Ling, LL Yun, SL Poh, A Ngoh, ... JCI insight 4 (8), 2019 | 34 | 2019 |
| RARS2 mutations in a sibship with infantile spasms A Ngoh, J Bras, R Guerreiro, E Meyer, A McTague, E Dawson, K Mankad, ... Epilepsia 57 (5), e97-e102, 2016 | 30 | 2016 |
| Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism J Ng, S Barral, C De La Fuente Barrigon, G Lignani, FA Erdem, ... Science translational medicine 13 (594), eaaw1564, 2021 | 25 | 2021 |
| Activation transcription factor-3 activation and the development of spinal cord degeneration in a rat model of amyotrophic lateral sclerosis A Malaspina, SFA Ngoh, RE Ward, JCE Hall, FWD Tai, PK Yip, C Jones, ... Neuroscience 169 (2), 812-827, 2010 | 24 | 2010 |
| Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum A Ngoh, A McTague, IM Wentzensen, E Meyer, C Applegate, EH Kossoff, ... Developmental Medicine & Child Neurology 56 (11), 1124-1128, 2014 | 23 | 2014 |
| Deciphering Developmental Disorders Study E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas …, 2017 | 17 | 2017 |
| TBC1D24 mutations in a sibship with multifocal polymyoclonus A Ngoh, J Bras, R Guerreiro, A McTague, J Ng, E Meyer, WK Chong, ... Tremor and Other Hyperkinetic Movements 7, 2017 | 15 | 2017 |
| Infantile-onset paroxysmal movement disorder and episodic ataxia associated with a TBC1D24 mutation V Zimmern, F Riant, E Roze, E Ranza, F Lehmann-Horn, J de Bellescize, ... Neuropediatrics 50 (05), 308-312, 2019 | 13 | 2019 |
| New developments in epilepsy management A Ngoh, APJ Parker Paediatrics and Child Health 27 (6), 281-286, 2017 | 5 | 2017 |
| Consortium UK E Meyer, KJ Carss, J Rankin, JM Nichols, D Grozeva, AP Joseph, ... Deciphering Developmental Disorders S, Consortium NBRD, Pittman A, Carr LJ …, 2017 | 5 | 2017 |
| Parents’ priorities for decision-making of pediatric epilepsy treatments and perceived needs for decision support in multi-ethnic Asian clinical setting: A qualitative analysis S Yoon, H Goh, CP Foo, MIM Kao, SL Hie, SL Chan, J Krishnappa, ... Epilepsy & Behavior 135, 108880, 2022 | 2 | 2022 |
