| Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ... Nature genetics 45 (9), 1067-1072, 2013 | 521 | 2013 |
| De novo variants in neurodevelopmental disorders with epilepsy HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ... Nature genetics 50 (7), 1048-1053, 2018 | 280 | 2018 |
| Progress in understanding and treating SCN2A-mediated disorders SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ... Trends in neurosciences 41 (7), 442-456, 2018 | 278 | 2018 |
| Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Nature communications 9 (1), 5269, 2018 | 251 | 2018 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 250 | 2019 |
| Cyclin-dependent kinase-like 5 deficiency disorder: clinical review HE Olson, ST Demarest, EM Pestana-Knight, LC Swanson, S Iqbal, D Lal, ... Pediatric neurology 97, 18-25, 2019 | 200 | 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 | 195 | 2016 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 184 | 2022 |
| Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies RJL Anney, A Avbersek, D Balding, L Baum, F Becker, SF Berkovic, ... The Lancet Neurology, 2014 | 171 | 2014 |
| The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission I Najm, D Lal, M Alonso Vanegas, F Cendes, I Lopes‐Cendes, A Palmini, ... Epilepsia 63 (8), 1899-1919, 2022 | 165 | 2022 |
| CHD2 variants are a risk factor for photosensitivity in epilepsy EC Galizia, CT Myers, C Leu, CGF De Kovel, T Afrikanova, ... Brain 138 (5), 1198-1208, 2015 | 148 | 2015 |
| ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes M Yabas, CE Teh, S Frankenreiter, D Lal, CM Roots, B Whittle, ... Nature immunology 12 (5), 441-449, 2011 | 146 | 2011 |
| DEPDC5 mutations in genetic focal epilepsies of childhood D Lal, EM Reinthaler, J Schubert, H Muhle, E Riesch, G Kluger, K Jabbari, ... Annals of neurology 75 (5), 788-792, 2014 | 133 | 2014 |
| RBFOX1 and RBFOX3 mutations in rolandic epilepsy D Lal, EM Reinthaler, J Altmüller, MR Toliat, H Thiele, P Nürnberg, ... PloS one 8 (9), e73323, 2013 | 131 | 2013 |
| CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development ST Demarest, HE Olson, A Moss, E Pestana‐Knight, X Zhang, S Parikh, ... Epilepsia 60 (8), 1733-1742, 2019 | 127 | 2019 |
| Polygenic burden in focal and generalized epilepsies C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ... Brain 142 (11), 3473-3481, 2019 | 120 | 2019 |
| A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants JA López-Rivera, E Pérez-Palma, J Symonds, AS Lindy, DA McKnight, ... Brain 143 (4), 1099-1105, 2020 | 113 | 2020 |
| Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis A Stefanski, Y Calle‐López, C Leu, E Pérez‐Palma, E Pestana‐Knight, ... Epilepsia 62 (1), 143-151, 2021 | 111 | 2021 |
| Predicting functional effects of missense variants in voltage-gated sodium and calcium channels HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ... Science translational medicine 12 (556), eaay6848, 2020 | 109 | 2020 |
| Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies D Lal, AK Ruppert, H Trucks, H Schulz, CG de Kovel, ... PLoS genetics 11 (5), e1005226, 2015 | 109 | 2015 |