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| Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 239 | 2014 |
| Clinical and imaging features of cortical malformations in childhood RJ Leventer, EM Phelan, LT Coleman, MJ Kean, GD Jackson, AS Harvey Neurology 53 (4), 715-715, 1999 | 239 | 1999 |
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 232 | 2017 |
| Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ... The American Journal of Human Genetics 96 (5), 808-815, 2015 | 218 | 2015 |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 218 | 2014 |
| Definitions and classification of malformations of cortical development: practical guidelines M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic, W Klonowski, ... Brain 143 (10), 2874-2894, 2020 | 212 | 2020 |
| Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome VL Sheen, A Jansen, MH Chen, E Parrini, T Morgan, R Ravenscroft, ... Neurology 64 (2), 254-262, 2005 | 210 | 2005 |
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ... Molecular genetics and metabolism 114 (4), 501-515, 2015 | 199 | 2015 |
| Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ... The American Journal of Human Genetics 92 (5), 774-780, 2013 | 193 | 2013 |
| Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors B Rivera, T Gayden, J Carrot-Zhang, J Nadaf, T Boshari, D Faury, ... Acta neuropathologica 131, 847-863, 2016 | 175 | 2016 |
| Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia N Matsumoto, RJ Leventer, JA Kuc, SK Mewborn, LL Dudlicek, ... European Journal of Human Genetics 9 (1), 5-12, 2001 | 169 | 2001 |
Paul J LockhartMurdoch Childrens Research Institute在 mcri.edu.au 的电子邮件经过验证
