| Dissecting the genetic basis of focal cortical dysplasia: a large cohort study S Baldassari, T Ribierre, E Marsan, H Adle-Biassette, S Ferrand-Sorbets, ... Acta neuropathologica 138, 885-900, 2019 | 269 | 2019 |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ... Annals of neurology 79 (1), 120-131, 2016 | 216 | 2016 |
| Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy T Ribierre, C Deleuze, A Bacq, S Baldassari, E Marsan, M Chipaux, ... The Journal of clinical investigation 128 (6), 2452-2458, 2018 | 206 | 2018 |
| 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 | 199 | 2019 |
| 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 | 127 | 2019 |
| Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) T Bonduelle, T Hartlieb, S Baldassari, NS Sim, SH Kim, HC Kang, ... Acta Neuropathologica Communications 9 (1), 1-13, 2021 | 89 | 2021 |
| GATOR1 complex: the common genetic actor in focal epilepsies S Baldassari, L Licchetta, P Tinuper, F Bisulli, T Pippucci Journal of medical genetics 53 (8), 503-510, 2016 | 79 | 2016 |
| Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial I Blümcke, R Coras, RM Busch, M Morita‐Sherman, D Lal, R Prayson, ... Epilepsia 62 (6), 1416-1428, 2021 | 71 | 2021 |
| Epilepsy with auditory features: A heterogeneous clinico-molecular disease T Pippucci, L Licchetta, S Baldassari, F Palombo, V Menghi, R D'Aurizio, ... Neurology: Genetics 1 (1), e5, 2015 | 58 | 2015 |
| Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients S Kim, S Baldassari, NS Sim, M Chipaux, G Dorfmüller, DS Kim, ... Annals of neurology 89 (6), 1248-1252, 2021 | 51 | 2021 |
| Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels, H Westley Phillips, ... Nature genetics 55 (2), 209-220, 2023 | 48 | 2023 |
| Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2 L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ... Human genetics 135, 1117-1125, 2016 | 38 | 2016 |
| Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients L Licchetta, T Pippucci, S Baldassari, R Minardi, F Provini, B Mostacci, ... Seizure 74, 60-64, 2020 | 34 | 2020 |
| PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy MS Hildebrand, R Tankard, EV Gazina, JA Damiano, KM Lawrence, ... Annals of clinical and translational neurology 2 (8), 821-830, 2015 | 34 | 2015 |
| A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype L Licchetta, T Pippucci, F Bisulli, G Cantalupo, P Magini, L Alvisi, ... Epilepsia 54 (7), 1298-1306, 2013 | 33 | 2013 |
| Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia WS Lee, S Baldassari, M Chipaux, H Adle‐Biassette, SEM Stephenson, ... Annals of Clinical and Translational Neurology, 2021 | 32 | 2021 |
| DEPDC5-related epilepsy S Baulac, S Baldassari GeneReviews®[Internet], 2023 | 31 | 2023 |
| Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis WS Lee, S Baldassari, SEM Stephenson, PJ Lockhart, S Baulac, ... International Journal of Molecular Sciences 23 (3), 1344, 2022 | 26 | 2022 |
| Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing A Bartoletti-Stella, S Baiardi, M Stanzani-Maserati, S Piras, P Caffarra, ... Neurobiology of aging 66, 180. e23-180. e31, 2018 | 25 | 2018 |
| Clinical features, neuropathology, and surgical outcome in patients with refractory epilepsy and brain somatic variants in the SLC35A2 gene C Barba, I Blumcke, MR Winawer, T Hartlieb, HC Kang, L Grisotto, ... Neurology 100 (5), e528-e542, 2023 | 23 | 2023 |
Stéphanie BaulacTeam leader at Institut du Cerveau (ICM), Paris, France在 icm-institute.org 的电子邮件经过验证
