Luigina Spaccini

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

Federico Zara, Nicola Specchio, Pasquale Striano et al. · Epilepsia · 2013 · 124 citations · Full text

Medicine, Genetics, Neurology +17

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

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens et al. · Nature Genetics · 2017 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Focal seizures with affective symptoms are a major feature of <i>PCDH19</i> gene–related epilepsy

Carla Marini, Francesca Darra, Nicola Specchio et al. · Epilepsia · 2012 · 76 citations · Full text

Medicine, Neurology, Neuroscience +17