Federica Cesca

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

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members

Federica Cesca, Elisa Bettella, Roberta Polli et al. · International Journal of Pediatric Otorhinolaryngology · 2017 · 21 citations

Life Sciences, Genetics, Molecular Genetics +14

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington’s Disease

Federica Cesca, Elisa Bregant, Borut Peterlin et al. · PLoS ONE · 2015 · 19 citations · Full text

Life Sciences, Molecular Biology, Neurology +17

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Federica Cesca, Elisa Bettella, Roberta Polli et al. · Journal of Human Genetics · 2020 · 16 citations

Life Sciences, Genetics, Molecular Genetics +11