| 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome K Toyo-Oka, A Shionoya, MJ Gambello, C Cardoso, R Leventer, HL Ward, ... Nature genetics 34 (3), 274-285, 2003 | 450 | 2003 |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 408 | 2016 |
| Somatic mutations in cerebral cortical malformations SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ... New England Journal of Medicine 371 (8), 733-743, 2014 | 375 | 2014 |
| Developmental trajectories of executive functions across the lifespan CR De Luca, RJ Leventer Executive functions and the frontal lobes, 57-90, 2010 | 374 | 2010 |
| Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis S Ramanathan, K Prelog, EH Barnes, EM Tantsis, SW Reddel, ... Multiple Sclerosis Journal 22 (4), 470-482, 2016 | 366 | 2016 |
| Childhood brain insult: can age at insult help us predict outcome? V Anderson, M Spencer-Smith, R Leventer, L Coleman, P Anderson, ... Brain 132 (1), 45-56, 2009 | 336 | 2009 |
| Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of … C Cardoso, RJ Leventer, HL Ward, K Toyo-Oka, J Chung, A Gross, ... The American Journal of Human Genetics 72 (4), 918-930, 2003 | 293 | 2003 |
| Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini, F Dubeau, ... Brain 133 (5), 1415-1427, 2010 | 282 | 2010 |
| Malformations of cortical development and epilepsy RJ Leventer, R Guerrini, WB Dobyns Dialogues in clinical neuroscience 10 (1), 47-62, 2008 | 273 | 2008 |
| 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 | 242 | 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 | 242 | 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 | 241 | 2017 |
| 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 | 230 | 2020 |
| 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 | 227 | 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 | 224 | 2014 |
| 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 | 214 | 2015 |
| 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 | 211 | 2005 |
| 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 | 201 | 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 | 183 | 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 | 170 | 2001 |
Paul J LockhartMurdoch Childrens Research InstituteVerified email at mcri.edu.au
