Luigi Boccuto
Luigi Boccuto
Research Scholar at Greenwood Genetic Center
Verified email at ggc.org
Title
Cited by
Cited by
Year
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
1892013
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
1182013
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
1172014
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
1112014
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
1002011
Controlling false discoveries in high-dimensional situations: boosting with stability selection
B Hofner, L Boccuto, M Göker
BMC bioinformatics 16 (1), 1-17, 2015
952015
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
862016
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
842019
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, ...
842018
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
812008
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
732009
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
722005
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
542014
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
442015
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
432019
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
382018
Phelan-McDermid Syndrome
K Phelan, RC Rogers, L Boccuto
GeneReviews®[internet], 2018
372018
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
342017
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, ...
312018
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
312017
The system can't perform the operation now. Try again later.
Articles 1–20