Francesca Cogliati

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 234 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +8

The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

Elena Gardella, Carla Marini, Marina Trivisano et al. · Neurology · 2018 · 157 citations · Full text

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Maria Teresa Bonati, Silvia Russo, Palma Finelli et al. · Neurogenetics · 2007 · 98 citations

Psychiatry, Syndromic Autism, Angelman Syndrome +10

Epilepsy in Rett syndrome: Clinical and genetic features

Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli et al. · Epilepsy & Behavior · 2010 · 82 citations · Full text

Mendelian Disorder, Neurological Disorder, Rett Syndrome +8

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

Silvia Russo, Margherita Marchi, Francesca Cogliati et al. · Neurogenetics · 2009 · 69 citations · Full text

Signal Transduction, Genetic Disorder, Genetics +7