| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ... PLoS genetics 10 (9), e1004580, 2014 | 667 | 2014 |
| Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017 | 568 | 2017 |
| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 451 | 2017 |
| Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome C Nava, N Hanna, C Michot, S Pereira, N Pouvreau, T Niihori, Y Aoki, ... Journal of medical genetics 44 (12), 763-771, 2007 | 301 | 2007 |
| De novo mutations in HCN1 cause early infantile epileptic encephalopathy C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ... Nature genetics 46 (6), 640-645, 2014 | 256 | 2014 |
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ... The American Journal of Human Genetics 90 (2), 369-377, 2012 | 228 | 2012 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 222 | 2019 |
| The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 217 | 2019 |
| Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 203 | 2016 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 197 | 2016 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 179 | 2020 |
| Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 RT Florian, F Kraft, E Leitão, S Kaya, S Klebe, E Magnin, ... Nature communications 10 (1), 4919, 2019 | 141 | 2019 |
| Defining the phenotypic spectrum of SLC6A1 mutations KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ... Epilepsia 59 (2), 389-402, 2018 | 137 | 2018 |
| Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ... Nature communications 10 (1), 4920, 2019 | 136 | 2019 |
| HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ... Brain 141 (11), 3160-3178, 2018 | 129 | 2018 |
| Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE C Nava, F Lamari, D Héron, C Mignot, A Rastetter, B Keren, D Cohen, ... Translational psychiatry 2 (10), e179-e179, 2012 | 129 | 2012 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 126 | 2018 |
| Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome Y Narumi, Y Aoki, T Niihori, G Neri, H Cavé, A Verloes, C Nava, ... American Journal of Medical Genetics Part A 143 (8), 799-807, 2007 | 124 | 2007 |
| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 120 | 2018 |
| BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ... Brain 141 (8), 2299-2311, 2018 | 110 | 2018 |
