Irene Bagnasco

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Intrathecal methotrexate affects cognitive function in children with medulloblastoma

Daria Riva, C. Giorgi, Francesca Nichelli et al. · Neurology · 2002 · 115 citations

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Shan Tang, Laura Addis, Anna Smith et al. · Epilepsia · 2020 · 55 citations · Full text

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Serena Galosi, Ban H. Edani, Simone Martinelli et al. · Brain · 2021 · 39 citations · Full text