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
1602013
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
1062014
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
1022013
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
922014
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
872011
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
792008
Controlling false discoveries in high-dimensional situations: boosting with stability selection
B Hofner, L Boccuto, M Göker
BMC bioinformatics 16 (1), 144, 2015
762015
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
692005
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
632016
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, ...
502018
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
422014
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), 105, 2015
352015
Phelan-McDermid Syndrome
K Phelan, RC Rogers, L Boccuto
GeneReviews®[internet], 2018
292018
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
MJ Lyons, JM Graham, G Neri, AGW Hunter, RD Clark, RC Rogers, ...
Journal of medical genetics 46 (1), 9-13, 2009
282009
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
272018
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
MT Carter, MT Geraghty, L De La Cruz, RR Reichard, L Boccuto, ...
American Journal of Medical Genetics Part A 155 (2), 301-306, 2011
252011
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, ...
212018
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
212017
Health benefits of Mediterranean diet in nonalcoholic fatty liver disease
L Abenavoli, L Di Renzo, L Boccuto, N Alwardat, S Gratteri, A De Lorenzo
Expert Review of Gastroenterology & Hepatology 12 (9), 873-881, 2018
192018
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