Ilaria Contaldo

Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutations

Valentina Cetica, Sara Chiari, Davide Mei et al. · Neurology · 2017 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

Life Sciences, Genetics, Molecular Genetics +17

Early visual assessment in preterm infants with and without brain lesions: Correlation with visual and neurodevelopmental outcome at 12months

Daniela Ricci, Domenico M. Romeo, Francesca Gallini et al. · Early Human Development · 2011 · 55 citations

Medicine, Neurology, Pediatrics +17

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi et al. · European Journal of Human Genetics · 2015 · 47 citations

Life Sciences, Genetics, Molecular Genetics +13

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder

Marcella Zollino, Daniela Orteschi, Mariken Ruiter et al. · Epilepsia · 2014 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17