Luigi Boccuto

A Multi-strain Probiotic Reduces the Fatty Liver Index, Cytokines and Aminotransferase levels in NAFLD Patients: Evidence from a Randomized Clinical Trial

Nazarii Kobyliak, Ludovico Abenavoli, Galyna Mykhalchyshyn et al. · Journal of Gastrointestinal and Liver Diseases · 2018 · 254 citations · Full text

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Luigi Boccuto, Maria Lauri, Sara M. Sarasua et al. · European Journal of Human Genetics · 2012 · 243 citations · Full text

Psychiatry, Autism Spectrum Disorders, Syndromic Autism +9

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp et al. · Human Genetics · 2014 · 189 citations

Genetic Disorder, Medicine, Genetics +10

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan‐Steet et al. · Human Molecular Genetics · 2013 · 177 citations · Full text

Genetics, Glycobiology, Molecular Biology +17