Angela Peron

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John J. Reynolds, Louise S. Bicknell, Paula Carroll et al. · Nature Genetics · 2017 · 113 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Aglaia Vignoli, Francesca La Briola, Angela Peron et al. · Orphanet Journal of Rare Diseases · 2015 · 94 citations · Full text

Medicine, Neurology, Psychiatry +17

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Monika Słowińska, Sergiusz Jóźwiak, Angela Peron et al. · Orphanet Journal of Rare Diseases · 2018 · 87 citations · Full text

Medicine, Neurology, Pediatrics +17

Epilepsy in ring chromosome 20 syndrome

Aglaia Vignoli, Francesca Bisulli, Francesca Darra et al. · Epilepsy Research · 2016 · 75 citations

Medicine, Genetics, Neurology +12

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini et al. · Human Mutation · 2019 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17