|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
|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
|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
|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
|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
|Controlling false discoveries in high-dimensional situations: boosting with stability selection|
B Hofner, L Boccuto, M Göker
BMC bioinformatics 16 (1), 144, 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
|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
|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, ...
|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), 105, 2015
|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
K Phelan, RC Rogers, L Boccuto
|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
|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
|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
|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