Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1370 | 2018 |
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 844 | 2008 |
Mapping the human genetic architecture of COVID-19 W leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai Masahiro 2, ... Nature 600 (7889), 472-477, 2021 | 745 | 2021 |
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 | 520 | 2017 |
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ... Brain 141 (2), 391-408, 2018 | 429 | 2018 |
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ... Brain 129 (7), 1892-1906, 2006 | 371 | 2006 |
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 | 318 | 2014 |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016 | 315 | 2016 |
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 293 | 2015 |
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 285 | 2015 |
Posterior reversible encephalopathy syndrome in intensive care medicine G Servillo, F Bifulco, E De Robertis, O Piazza, P Striano, F Tortora, ... Intensive care medicine 33, 230-236, 2007 | 280 | 2007 |
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 | 271 | 2018 |
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ... Nature genetics 47 (6), 579-581, 2015 | 270 | 2015 |
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 | 254 | 2013 |
Posterior reversible encephalopathy syndrome: the endothelial hypotheses A Marra, M Vargas, P Striano, L Del Guercio, P Buonanno, G Servillo Medical hypotheses 82 (5), 619-622, 2014 | 245 | 2014 |
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 | 244 | 2014 |
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 | 240 | 2019 |
Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ... Neurology 81 (19), 1697-1703, 2013 | 238 | 2013 |
Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013 P Pavone, P Striano, R Falsaperla, L Pavone, M Ruggieri Brain and development 36 (9), 739-751, 2014 | 234 | 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 | 218 | 2015 |