Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3338 | 1996 |
Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1558 | 2018 |
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 853 | 2021 |
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy C Minetti, F Sotgia, C Bruno, P Scartezzini, P Broda, M Bado, E Masetti, ... Nature genetics 18 (4), 365-368, 1998 | 777 | 1998 |
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 | 574 | 2017 |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 475* | 2014 |
Benign familial neonatal‐infantile seizures: characterization of a new sodium channelopathy SF Berkovic, SE Heron, L Giordano, C Marini, R Guerrini, RE Kaplan, ... Annals of neurology 55 (4), 550-557, 2004 | 378 | 2004 |
The genetics of Dravet syndrome C Marini, IE Scheffer, R Nabbout, A Suls, P De Jonghe, F Zara, R Guerrini Epilepsia 52, 24-29, 2011 | 338 | 2011 |
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy R Nabbout, E Gennaro, B Dalla Bernardina, O Dulac, F Madia, E Bertini, ... Neurology 60 (12), 1961-1967, 2003 | 335 | 2003 |
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 305 | 2015 |
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies International League Against Epilepsy Consortium on Complex Epilepsies The Lancet Neurology 13 (9), 893-903, 2014 | 302 | 2014 |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 298 | 2015 |
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 | 292 | 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 | 274 | 2019 |
Genetic testing in the epilepsies—report of the ILAE Genetics Commission R Ottman, S Hirose, S Jain, H Lerche, I Lopes‐Cendes, JL Noebels, ... Epilepsia 51 (4), 655-670, 2010 | 274 | 2010 |
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013 | 267 | 2013 |
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation PC Mainardi, C Perfumo, A Cali, G Coucourde, G Pastore, S Cavani, ... Journal of Medical Genetics 38 (3), 151-158, 2001 | 262 | 2001 |
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 | 258 | 2014 |
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 | 236 | 2015 |
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 | 227 | 2019 |