Luigi Boccuto
Luigi Boccuto
Research Scholar at Greenwood Genetic Center
Verified email at
Cited by
Cited by
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
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), 1-10, 2013
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
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 (7), 847-859, 2014
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
Controlling false discoveries in high-dimensional situations: boosting with stability selection
B Hofner, L Boccuto, M Göker
BMC bioinformatics 16 (1), 1-17, 2015
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
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
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, ...
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
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
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers
M Agostini, MG Tibiletti, E Lucci-Cordisco, A Chiaravalli, H Morreau, ...
American Journal of Gastroenterology 100 (8), 1886-1891, 2005
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
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), 1-9, 2015
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
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
Phelan-McDermid Syndrome
K Phelan, RC Rogers, L Boccuto
GeneReviews®[internet], 2018
Polyphenols treatment in patients with nonalcoholic fatty liver disease
L Abenavoli, N Milic, F Luzza, L Boccuto, A De Lorenzo
Journal of translational internal medicine 5 (3), 144-147, 2017
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, ...
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), 1-15, 2017
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