Sara Baldassari

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan et al. · Acta Neuropathologica · 2019 · 360 citations · Full text

Medicine, Genetics, Neurosurgery +17

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Théo Ribierre, Charlotte Deleuze, Alexandre Bacq et al. · Journal of Clinical Investigation · 2018 · 238 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in the mammalian target of rapamycin pathway regulators <i>NPRL2</i> and <i>NPRL3</i> cause focal epilepsy

Michael G. Ricos, Bree Hodgson, Tommaso Pippucci et al. · Annals of Neurology · 2015 · 236 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano et al. · Nature Communications · 2019 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17