Antonella Fabretto

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Emmanouil Athanasakis, Danilo Licastro, Flavio Faletra et al. · American Journal of Medical Genetics Part A · 2013 · 47 citations

Life Sciences, Genetics, Molecular Genetics +17

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling

Samuele Naviglio, Serena Arrigo, Stefano Martelossi et al. · Journal of Crohn s and Colitis · 2014 · 35 citations

Medicine, Immunology, Pathology +17

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Danilo Licastro, Margherita Mutarelli, Ivana Peluso et al. · PLoS ONE · 2012 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular epidemiology of Usher syndrome in Italy.

Diego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis et al. · PubMed · 2011 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17