Sara Loddo

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Agatino Battaglia, Viola Doccini, Laura Bernardini et al. · European Journal of Paediatric Neurology · 2013 · 206 citations

Neurodevelopmental Disorders, Intellectual Impairment, Psychiatry +11

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Sali M.K. Farhan, John F. Robinson, Adam D. McIntyre et al. · Canadian Journal of Cardiology · 2014 · 71 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

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

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni et al. · American Journal of Medical Genetics Part A · 2015 · 56 citations