Viola Alesi

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira et al. · Prenatal Diagnosis · 2015 · 303 citations

Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal et al. · Brain · 2020 · 80 citations · Full text

High Density, Protein Glycosylation, Developmental Biology +15

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Laura Bernardini, Viola Alesi, Sara Loddo et al. · European Journal of Human Genetics · 2009 · 67 citations · Full text

Intellectual Impairment, Neuroimaging Biomarkers, Psychiatry +7

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede et al. · Neurogenetics · 2018 · 62 citations

Rare Hsp-related Genes, Rare Diseases, Genetic Disorder +8

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi et al. · Experimental Dermatology · 2018 · 44 citations