| Gut microbiota and obesity: a role for probiotics L Abenavoli, E Scarpellini, C Colica, L Boccuto, B Salehi, J Sharifi-Rad, ... Nutrients 11 (11), 2690, 2019 | 493 | 2019 |
| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders L Boccuto, M Lauri, SM Sarasua, CD Skinner, D Buccella, A Dwivedi, ... European Journal of Human Genetics 21 (3), 310-316, 2013 | 266 | 2013 |
| A multi-strain probiotic reduces the fatty liver index, cytokines and aminotransferase levels in NAFLD patients: evidence from a randomized clinical trial N Kobyliak, L Abenavoli, G Mykhalchyshyn, L Kononenko, L Boccuto, ... | 207 | 2018 |
| Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome SM Sarasua, L Boccuto, JL Sharp, A Dwivedi, CF Chen, JD Rollins, ... Human genetics 133, 847-859, 2014 | 188 | 2014 |
| A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein … L Boccuto, K Aoki, H Flanagan-Steet, CF Chen, X Fan, F Bartel, M Petukh, ... Human molecular genetics 23 (2), 418-433, 2014 | 177 | 2014 |
| Decreased tryptophan metabolism in patients with autism spectrum disorders L Boccuto, CF Chen, AR Pittman, CD Skinner, HJ McCartney, K Jones, ... Molecular autism 4, 1-10, 2013 | 177 | 2013 |
| PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016 | 160 | 2016 |
| Controlling false discoveries in high-dimensional situations: boosting with stability selection B Hofner, L Boccuto, M Göker BMC bioinformatics 16, 1-17, 2015 | 160 | 2015 |
| Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome) SM Sarasua, A Dwivedi, L Boccuto, JD Rollins, CF Chen, RC Rogers, ... Journal of medical genetics 48 (11), 761-766, 2011 | 150 | 2011 |
| Diet and non-alcoholic fatty liver disease: the Mediterranean way L Abenavoli, L Boccuto, A Federico, M Dallio, C Loguercio, L Di Renzo, ... International journal of environmental research and public health 16 (17), 3011, 2019 | 115 | 2019 |
| Phelan-mcdermid syndrome K Phelan, RC Rogers, L Boccuto GeneReviews®[internet], 2018 | 101 | 2018 |
| 22q13. 2q13. 32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome SM Sarasua, A Dwivedi, L Boccuto, CF Chen, JL Sharp, JD Rollins, ... Genetics in Medicine 16 (4), 318-328, 2014 | 94 | 2014 |
| Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour F Cerrato, A Sparago, G Verde, A De Crescenzo, V Citro, MV Cubellis, ... Human molecular genetics 17 (10), 1427-1435, 2008 | 91 | 2008 |
| Beneficial effects of probiotic combination with omega-3 fatty acids in NAFLD: a randomized clinical study N Kobyliak, L Abenavoli, T Falalyeyeva, G Mykhalchyshyn, L Boccuto, ... | 88 | 2018 |
| Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder PB Jackson, L Boccuto, C Skinner, JS Collins, G Neri, F Gurrieri, ... Autism Research 2 (4), 232-236, 2009 | 83 | 2009 |
| Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations LM Oberman, L Boccuto, L Cascio, S Sarasua, WE Kaufmann Orphanet journal of rare diseases 10, 1-9, 2015 | 82 | 2015 |
| Dietary polyphenols and non-alcoholic fatty liver disease L Abenavoli, T Larussa, A Corea, AC Procopio, L Boccuto, M Dallio, ... Nutrients 13 (2), 494, 2021 | 79 | 2021 |
| Obeticholic acid: a new era in the treatment of nonalcoholic fatty liver disease L Abenavoli, T Falalyeyeva, L Boccuto, O Tsyryuk, N Kobyliak Pharmaceuticals 11 (4), 104, 2018 | 79 | 2018 |
| Two PMS2 mutations in a Turcot syndrome family with small bowel cancers M Agostini, MG Tibiletti, E Lucci-Cordisco, A Chiaravalli, H Morreau, ... Official journal of the American College of Gastroenterology| ACG 100 (8 …, 2005 | 76 | 2005 |
| Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome C Li, JM Brazill, S Liu, C Bello, Y Zhu, M Morimoto, L Cascio, R Pauly, ... Nature communications 8 (1), 1257, 2017 | 74 | 2017 |
