| 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 | 440 | 2003 |
| An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript C Rougeulle, C Cardoso, M Fontés, L Colleaux, M Lalande Nature genetics 19 (1), 15-16, 1998 | 373 | 1998 |
| Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ... Nature genetics 41 (6), 746-752, 2009 | 370 | 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 | 288 | 2003 |
| Two affected boys in a Rett syndrome family: clinical and molecular findings L Villard, A Kpebe, C Cardoso, J Chelly, M Tardieu, M Fontes Neurology 55 (8), 1188-1193, 2000 | 246 | 2000 |
| Specific Interaction between the XNP ATR-X Gene Product and the SET Domain of the Human EZH2 Protein C Cardoso, S Timsit, L Villard, M Khrestchatisky, M Fontès, L Colleaux Human molecular genetics 7 (4), 679-684, 1998 | 179 | 1998 |
| The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders C Cardoso, C Mignon, G Hetet, B Grandchamps, M Fontes, L Colleaux European Journal of Human Genetics 8 (3), 174-180, 2000 | 175 | 2000 |
| Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ... Journal of Medical Genetics 47 (5), 299-311, 2010 | 168 | 2010 |
| Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14. 3-q15 deletion C Cardoso, A Boys, E Parrini, C Mignon-Ravix, JM Mcmahon, S Khantane, ... Neurology 72 (9), 784-792, 2009 | 142 | 2009 |
| Dendritic spine plasticity: function and mechanisms K Runge, C Cardoso, A De Chevigny Frontiers in synaptic neuroscience 12, 36, 2020 | 136 | 2020 |
| Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) C Cardoso, RJ Leventer, JJ Dowling, HL Ward, J Chung, KS Petras, ... Human mutation 19 (1), 4-15, 2002 | 136 | 2002 |
| Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia N Philip, B Chabrol, AM Lossi, C Cardoso, R Guerrini, WB Dobyns, ... Journal of medical genetics 40 (6), 441-446, 2003 | 134 | 2003 |
| A locus for bilateral perisylvian polymicrogyria maps to Xq28 L Villard, K Nguyen, C Cardoso, CL Martin, AM Weiss, M Sifry-Platt, ... The American Journal of Human Genetics 70 (4), 1003-1008, 2002 | 130 | 2002 |
| The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene C Cardoso, RJ Leventer, N Matsumoto, JA Kuc, MB Ramocki, ... Human molecular genetics 9 (20), 3019-3028, 2000 | 116 | 2000 |
| Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model N Lozovaya, S Gataullina, T Tsintsadze, V Tsintsadze, ... Nature communications 5 (1), 4563, 2014 | 107 | 2014 |
| TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway A Falace, E Buhler, M Fadda, F Watrin, P Lippiello, E Pallesi-Pocachard, ... Proceedings of the National Academy of Sciences 111 (6), 2337-2342, 2014 | 102 | 2014 |
| Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ... Brain 136 (11), 3378-3394, 2013 | 100 | 2013 |
| Abnormal network activity in a targeted genetic model of human double cortex JB Ackman, L Aniksztejn, V Crépel, H Becq, C Pellegrino, C Cardoso, ... Journal of Neuroscience 29 (2), 313-327, 2009 | 89 | 2009 |
| Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase L Villard, AM Lossi, C Cardoso, V Proud, P Chiaroni, L Colleaux, ... Genomics 43 (2), 149-155, 1997 | 85 | 1997 |
| Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved … AM Lossi, JM Millan, L Villard, C Orellana, C Cardoso, F Prieto, M Fontes, ... The American Journal of Human Genetics 65 (2), 558-562, 1999 | 78 | 1999 |
Richard LeventerProfessor of Neurology, Royal Children's Hospital, MelbourneVerified email at rch.org.au
