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College of Behavioral, Social and Health Sciences

Faculty and Staff Profile

Luigi Boccuto

MD, Clinical Associate Professor

Office: Edwards Hall

Phone: 8646561437


Vita: View

Educational Background

MD Medicine
Catholic University of Sacred Heart (UCSC), Rome, Italy 2002

Post-doc Medical Genetics
Catholic University of Sacred Heart (UCSC), Rome, Italy 2006

Courses Taught

S2005-HCG-9890-400-54616 Principles and Methods in Genetics
HCG 9070 Applied Health Genetics
HCG 9050 Ethics and Policy
S2008-HCG-9090-404-88285 Lab Methods in Healthcare Genetics


Dr. Luigi Boccuto is a clinical geneticist, interesting in autism spectrum disorder and related conditions, such as Phelan-McDermid syndrome, hereditary cancer, overgrowth syndromes and intellectual disability. He is currently employed as Faculty Member of the School of Nursing at Clemson University. He has worked as Research Scientist at the Greenwood Genetic Center (Greenwood, SC, USA) and as Chief Scientific Officer for STALICLA,SA (Geneva, Switzerland). He has been working on pathogenic mechanisms and metabolic profiling of several genetic conditions, in particular, he has been involved with Phelan-McDermid syndrome since 2007,

Research Interests

Autism spectrum disorder (ASD): study of candidate genes, characterization of molecular profiles, endophenotyping of various ASD subgroups, biomarkers for early screening and molecular diagnosis of ASD, identification of potential targets for treatment.
Phelan-McDermid syndrome (PMS): definition of genotype/phenotype correlation and investigation of the role of SHANK3 and other candidate genes, characterization of clinical variability in patients with PMS, molecular features that can help to identify subgroups, assessment of new potential treatments.
Cancer and overgrowth: study of molecular pathways involved in cancer and overgrowth, metabolic profiling of different cancer cell lines, identification of potential biomarkers and molecular targets for treatment, assessment of the efficacy of new drugs.
Liver and gastrointestinal diseases: investigation of molecular and genetic alterations associated with liver disease, microbiota imbalance, and other gastrointestinal disorders.
Predisposition to complex disorders: study of genetic variants affecting the susceptibility to complex disorders such as neurobehavioral disorders, cancer, or COVID-19.

Research Publications

1. “Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.”
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L.
PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021.PMID: 34228749

2. “Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.”
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM.
Am J Med Genet A. 2021 Jun 29. doi: 10.1002/ajmg.a.62412. Online ahead of print.
PMID: 34184825 Review.
3. “Are probiotics effective in reversing non-alcoholic steatohepatitis?
Abenavoli L, Boccuto L, Scarpellini E.
Hepatobiliary Surg Nutr. 2021 Jun;10(3):407-409. doi: 10.21037/hbsn-21-85.
4. “Trends and characteristics associated with dietary triggers and psychological distress in patients with irritable bowel syndrome: a cross-sectional study.”
Larussa T, Abenavoli L, Corea A, Procopio AC, Giubilei L, Vallelunga R, Polimeni N, Suraci E, Marasco R, Imeneo M, Boccuto L, Luzza F.
Eur Rev Med Pharmacol Sci. 2021 May;25(10):3752-3761. doi:10.26355/eurrev_202105_25943.
5. “Overgrowth in myth and art.”
Boccuto L, Neri G.
Am J Med Genet C Semin Med Genet. 2021 May 13. doi: 10.1002/ajmg.c.31910. Online ahead of print. PMID: 33982857.
6. “Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.”
Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A.
Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647.
7. “Gut microbiota and non-alcoholic fatty liver disease: a narrative review.”
Abenavoli L, Procopio AC, Scarpellini E, Polimeni N, Aquila I, Larussa T, Boccuto L, Luzza F.
Minerva Gastroenterol (Torino). 2021 Apr 19. doi: 10.23736/S2724-5985.21.02896-5. Online ahead of print.
8. “Anxiety and Gastrointestinal Symptoms Related to COVID-19 during Italian Lockdown.” Abenavoli L, Cinaglia P, Lombardo G, Boffoli E, Scida M, Procopio AC, Larussa T, Boccuto L, Zanza C, Longhitano Y, Fagoonee S, Luzza F.
J Clin Med. 2021 Mar 16;10(6):1221. doi: 10.3390/jcm10061221. PMID: 33809403 Free PMC article.
9. “Tremors: A concept analysis.”
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM.
Nurs Open. 2021 Apr 2. doi: 10.1002/nop2.840. Online ahead of print. PMID: 33797860
10. “SARS-CoV-2 Spread Dynamics in Italy: The Calabria Experience.”
Abenavoli L, Cinaglia P, Procopio AC, Serra R, Aquila I, Zanza C, Longhitano Y, Artico M, Larussa T, Boccuto L, Ricci P, Luzza F.
Rev Recent Clin Trials. 2021 Apr 1. doi: 10.2174/1574887116666210401124945. Online ahead of print. PMID: 33797377
11. “Editorial: Recent Advances in Pediatric Cancer Predisposition Syndromes.”
Mastronuzzi A, Boccuto L, Masetti R.
Front Pediatr. 2021 Mar 8;9:661894. doi: 10.3389/fped.2021.661894. eCollection 2021. PMID: 33763398
12. “Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.”
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A.
Clin Genet. 2021 Mar 17. doi: 10.1111/cge.13957. Online ahead of print. PMID: 33733458
13. “Corrigendum: Childhood Vascular Tumors.”
Hinen HB, Boccuto L, Trenor CC 3rd, Wine Lee L.
Front Pediatr. 2021 Feb 24;9:649610. doi: 10.3389/fped.2021.649610. eCollection 2021. PMID: 33718312 Free PMC article.
14. “Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.”
Del Baldo G, Carta R, Alessi I, Merli P, Agolini E, Rinelli M, Boccuto L, Milano GM, Serra A, Carai A, Locatelli F, Mastronuzzi A.
Front Oncol. 2021 Feb 22;11:586288. doi: 10.3389/fonc.2021.586288. eCollection 2021. PMID: 33692948 Free PMC article. Review.
15. “Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.”
Zarate YA, Örsell JL, Bosanko K, Srikanth S, Cascio L, Pauly R, Boccuto L.
Metab Brain Dis. 2021 Mar 4. doi: 10.1007/s11011-021-00706-7.
16. “Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.”
Boni A, Ranalli M, Del Baldo G, Carta R, Lodi M, Agolini E, Rinelli M, Valentini D, Rossi S, Alesi V, Cacchione A, Miele E, Alessi I, Caroleo AM, Colafati GS, De Ioris MA, Boccuto L, Balducci M, Carai A, Mastronuzzi A.
Diagnostics (Basel). 2021 Feb 7;11(2):254. doi: 10.3390/diagnostics11020254. PMID: 33562188.
17. “DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.”
Caroleo AM, De Ioris MA, Boccuto L, Alessi I, Del Baldo G, Cacchione A, Agolini E, Rinelli M, Serra A, Carai A, Mastronuzzi A.
Front Oncol. 2021 Jan 21;10:614541. doi: 10.3389/fonc.2020.614541. eCollection 2020. PMID: 33552988 Free PMC article. Review.
18. “Dietary Polyphenols and Non-Alcoholic Fatty Liver Disease.”
Abenavoli L, Larussa T, Corea A, Procopio AC, Boccuto L, Dallio M, Federico A, Luzza F.
Nutrients. 2021 Feb 3;13(2):494. doi: 10.3390/nu13020494. PMID: 33546130
19. “Nutrition and COVID -19 pandemic: the case of Mediterranean diet.”
Abenavoli L, Procopio AC, Boccuto L.
Gazzetta Medica Italiana - Archivio per le Scienze Mediche 2020 December;179(12):648-9
DOI: 10.23736/S0393-3660.20.04541-6.
20. “DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.”
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B.
Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. PMID: 33407854.
21. “Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experience.”
Cacchione A, Lodi M, Carai A, Miele E, Tartaglia M, Megaro G, Del Baldo G, Alessi I, Colafati GS, Carboni A, Boccuto L, Diomedi Camassei F, Catanzaro G, Po A, Ferretti E, Pedace L, Pizzi S, Folgiero V, Pezzullo M, Corsetti T, Secco DE, Cefalo MG, Locatelli F, Mastronuzzi A.
Int J Cancer. 2020 Dec 15. doi: 10.1002/ijc.33438. Online ahead of print. PMID: 33320972.
22. “Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.”
Ceglie G, Del Baldo G, Agolini E, Rinelli M, Cacchione A, Del Bufalo F, Vinci M, Carta R, Boccuto L, Miele E, Mastronuzzi A, Locatelli F, Carai A.
Front Pediatr. 2020 Nov 12;8:561487. doi: 10.3389/fped.2020.561487. eCollection 2020. PMID: 33282797.
23. “New Strategies for Clinical Trials in Autism Spectrum Disorder.”
Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L.
Rev Recent Clin Trials. 2020 Nov 19. doi: 10.2174/1574887115666201120093634. Online ahead of print. PMID: 33222679
24. “Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.”
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A.
Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. PMID: 33194646 Free PMC article. Review.
25. “COVID-19 and Inflammatory Bowel Disease: Patient Knowledge and Perceptions in a Single Center Survey.”
Spagnuolo R, Larussa T, Iannelli C, Cosco C, Nisticò E, Manduci E, Bruno A, Boccuto L, Abenavoli L, Luzza F, Doldo P.
Medicina (Kaunas). 2020 Aug 13;56(8):407. doi: 10.3390/medicina56080407. PMID: 32823727 Free PMC article.
26. “Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.”
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L.
Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. PMID: 32822873
27. “Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.”
Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A.
Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. PMID: 32806529 Free PMC article.
28. “Sudden olfactory loss as an early marker of COVID-19: a nationwide Italian survey.”
Spadera L, Viola P, Pisani D, Scarpa A, Malanga D, Sorrentino G, Madini E, Laria C, Aragona T, Leopardi G, Maggiore G, Ciriolo M, Boccuto L, Pizzolato R, Abenavoli L, Cassandro C, Ralli M, Cassandro E, Chiarella G.
Eur Arch Otorhinolaryngol. 2020 Aug 4:1-9. doi: 10.1007/s00405-020-06252-9. Online ahead of print. PMID: 32749606 Free PMC article.
29. “The Reality of Patient-Reported Outcomes of Health-Related Quality of Life in an Italian Cohort of Patients with Inflammatory Bowel Disease: Results from a Cross-Sectional Study.”
Larussa T, Flauti D, Abenavoli L, Boccuto L, Suraci E, Marasco R, Imeneo M, Luzza F.
J Clin Med. 2020 Jul 28;9(8):2416. doi: 10.3390/jcm9082416.
30. “Potential role of fecal gluten immunogenic peptides to assess dietary compliance in celiac patients.”
Larussa T, Boccuto L, Luzza F, Abenavoli L.
Minerva Gastroenterol Dietol. 2020 May 13. doi: 10.23736/S1121-421X.20.02710-5.
31. “SARS-CoV-2 Pandemic: Review of the Literature and Proposal for Safe Autopsy Practice.”
Aquila I, Sacco MA, Abenavoli L, Malara N, Arena V, Grassi S, Ausania F, Boccuto L, Ricci C, Gratteri S, Oliva A, Ricci P.
Arch Pathol Lab Med. 2020 May 8. doi: 10.5858/arpa.2020-0165-SA.
32. “Epidemiology of Coronavirus Disease Outbreak: The Italian Trends.”
Abenavoli L, Cinaglia P, Luzza F, Gentile I, Boccuto L.
Rev Recent Clin Trials. 2020 Apr 7. doi: 10.2174/1574887115999200407143449.
33. “Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.”
Cascio L, Chen CF, Pauly R, Srikanth S, Jones K, Skinner CD, Stevenson RE, Schwartz CE, Boccuto L.
Mol Genet Genomic Med. 2020 Jan;8(1):e1036. doi: 10.1002/mgg3.1036.
34. “Gut Microbiota and Obesity: A Role for Probiotics.”
Abenavoli L, Scarpellini E, Colica C, Boccuto L, Salehi B, Sharifi-Rad J, Aiello V, Romano B, De Lorenzo A, Izzo AA, Capasso R.
Nutrients. 2019 Nov 7;11(11). pii: E2690. doi: 10.3390/nu11112690.
35. “The Skin in Celiac Disease Patients: The Other Side of the Coin.”
Abenavoli L, Dastoli S, Bennardo L, Boccuto L, Passante M, Silvestri M, Proietti I, Potenza C, Luzza F, Nisticò SP.
Medicina (Kaunas). 2019 Sep 9;55(9). pii: E578. doi: 10.3390/medicina55090578. Review.
36. “Chemical Effect of Bisphenol A on Non-Alcoholic Fatty Liver Disease.”
Dallio M, Diano N, Masarone M, Gravina AG, Patanè V, Romeo M, Di Sarno R, Errico S, Nicolucci C, Abenavoli L, Scarpellini E, Boccuto L, Persico M, Loguercio C, Federico A.
Int J Environ Res Public Health. 2019 Aug 28;16(17). pii: E3134. doi: 10.3390/ijerph16173134. Review.
37. “Diet and Non-Alcoholic Fatty Liver Disease: The Mediterranean Way.”
Abenavoli L, Boccuto L, Federico A, Dallio M, Loguercio C, Di Renzo L, De Lorenzo A.
Int J Environ Res Public Health. 2019 Aug 21;16(17). pii: E3011. doi: 10.3390/ijerph16173011. Review.
38. “Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.”
Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT 2nd.
Am J Med Genet A. 2019 Jun;179(6):1047-1052.
39. “Nonalcoholic fatty liver disease in obese adolescents: the role of genetic polymorphisms.”
Abenavoli L, Boccuto L.
Hepatobiliary Surg Nutr. 2019 Apr;8(2):179-180.
40. “Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors.”
Shen F, Boccuto L, Pauly R, Srikanth S, Chandrasekaran S.
Genome Biol. 2019 Mar 1;20(1):49.
41. “Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.”
Boccuto L, Abenavoli L, Cascio L, Srikanth S, DuPont B, Mitz AR, Rogers RC, Phelan K.
Clin Genet. 2018 Dec;94(6):590-591.
42. “Obeticholic Acid: A New Era in the Treatment of Nonalcoholic Fatty Liver Disease.”
Abenavoli L, Falalyeyeva T, Boccuto L, Tsyryuk O, Kobyliak N.
Pharmaceuticals (Basel). 2018 Oct 11;11(4). pii: E104.
43. “Is possible to detect nonalcoholic fatty liver disease by a new index including single nucleotide polymorphisms (SNPs)?”
Abenavoli L, Boccuto L.
Ann Transl Med. 2018 Sep;6(18):366.
44. “Beneficial effects of probiotic combination with omega-3 fatty acids in NAFLD: a randomized clinical study.”
Kobyliak N, Abenavoli L, Falalyeyeva T, Mykhalchyshyn G, Boccuto L, Kononenko L, Kyriienko D, Komisarenko I, Dynnyk O.
Minerva Med. 2018 Sep 13.
45. “Health benefits of Mediterranean diet in nonalcoholic fatty liver disease.”
Abenavoli L, Di Renzo L, Boccuto L, Alwardat N, Gratteri S, De Lorenzo A.
Expert Rev Gastroenterol Hepatol. 2018 Jul 23.
46. “Phelan-McDermid Syndrome”.
Phelan K, Rogers RC, Boccuto L.
2005 May 11 [Updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from:
47. “Hepatitis C virus-induced hepatocellular carcinoma: a narrative review”.
Ruži? M, Pellicano R, Fabri M, Luzza F, Boccuto L, Brki? S, Abenavoli L.
Panminerva Med. 2018 Jun 1.
48. “The role of nanotechnology in food safety.”
Colica C. Aiello V, Boccuto L, Kobyliak N, Strongoli MC, Vecchio I, Abenavoli L.
Minerva Biotecnologica 2018 June;30(2):69-73.
49. “Adiponectin in hepatology.”
Abenavoli L, Boccuto L, Masarone M, Pellicano R, Persico M.
Minerva Biotecnologica 2018 March;30(1):36-40.
50. “Role of genetics and metabolism in non-alcoholic fatty liver disease.”
Abenavoli L, Pellicano R, Boccuto L.
Panminerva Med. 2018 Feb 13. doi: 10.23736/S0031-0808.18.03418-3.
51. “Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome”.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufman WE, Thurm A.
Eur J Hum Genet. 2018 Mar;26(3):293-302.
52. “Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.”
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.
Nat Commun. 2018 Jan 18;9(1):337.
53. “Spermine Synthase Deficiency Causes Lysosomal Dysfunction and Oxidative Stress through Polyamine Oxidation in Snyder-Robinson Syndrome”.
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Cascio L, Pauly R, Goheen M, Weech A, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.
Nat Commun. 2017 Nov 2;8(1):1257.
54. “Polyphenols treatment in patients with nonalcoholic fatty liver disease.”
Abenavoli L, Milic N, Luzza F, Boccuto L, De Lorenzo A.
J Transl Int Med. Sep 30, 2017; 5(3): 144-147.
55. “The impact of genetic polymorphisms on liver diseases: entering the era of personalized medicine.”
Boccuto L, Abenavoli L.
Eur J Gastroenterol Hepatol. 2017 Sep;29(9):1102-1103.
56. “New serum markers for detection of early hepatocellular carcinoma.”
Abenavoli L, Boccuto L.
Panminerva Med. 2017 Jul 13.
57. “Genetic and epigenetic profile of patients with alcoholic liver disease”.
Boccuto L, Abenavoli L.
Ann Hepatol. 2017 Aug 1;16(4):490-500.
58. “Adiponectin serum level changes and its dynamic relationship with hepatitis C during viral clearance.”
Abenavoli L, Boccuto L.
Virulence. 2017 Apr 4:1-3. doi: 10.1080/21505594.2017.1315498. [Epub ahead of print]
59. “Looking toward the Future: An Inquiry into the Acceptance of a Hypothetical Laboratory-based Screening Test for Autism Spectrum Disorder.”
DeLuca JM, Sarasua SM, Boccuto L.
Journal of Pediatric Research, submitted for publication.
60. “Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.”
Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P.
Am J Med Genet A. 2016 Dec;170(12):3348-3351.
61. “PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.”
Mirzaa G, Timms E, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O’Connor BC, Keegan CE, Yin LJ, Meeng Lai AH, Martin N, McKinnonM, Addor M-C, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Lisa Worgan L, James Reggin J, Raoul Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr., Guerrini R, and Dobyns WB.
JCI Insight. 2016;1(9):e87623.
62. “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.”
Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.
Orphanet J Rare Dis. 2015 Aug 27;10(1):105.
63. “Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.”
Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE.
Am J Med Genet A. 2015 Jul;167(7):1679-80.
64. “Controlling false discoveries in high-dimensional situations: boosting with stability selection.”
Hofner B, Boccuto L, Göker M.
BMC Bioinformatics. 2015 May 6;16(1):144.
65. “Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.”
Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, Dupont BR.
Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31.
66. “22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.”
Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR.
Genet Med. 2014 Apr;16(4):318-28. Epub 2013 Oct 17.
67. “A Mutation in a Ganglioside Biosynthetic Enzyme, ST3GAL5, Results in Salt & Pepper Syndrome, a Neurocutaneous Disorder with Altered Glycolipid and Glycoprotein Glycosylation.”
Boccuto L, Aoki K, Flanagan-Steet H, Chen C-F, Fan X, Bartel F, Petukh M, Pittman AR, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE.
Hum Mol Genet. 2013 Sep 10.
68. “Decreased tryptophan metabolism in patients with autism spectrum disorders.”
Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE.
Mol Autism. 2013 Jun 3;4(1):16.
69. “Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.”
Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE.
Eur J Hum Genet. 2013 Mar;21(3):310-6.
70. “Program and abstracts for the 2011 Meeting of the Society for Glycobiology.”
Hollingsworth MT, Hart GW, Paulson JC, ... Aoki K, Boccuto L, Zhang Q, ... Ruhaak RL, Miyamoto S, Lebrilla CB.
Glycobiology 2011 Nov; 21(11):1454-531.
71. “Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).”
Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.
J Med Genet. 2011 Nov;48(11):761-6.
72. “A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.”
Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL.
Am J Med Genet A. 2011 Feb;155(2):301-6.
73. “Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.”
Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE.
Autism Res. 2009 Aug;2(4):232-6.
74. “Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.”
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75. “Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.”
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Honors and Awards

- Executive Award 2017 as Best Research Scientist in South Carolina.
- Young Investigator Award at the Second International Phelan-McDermid Syndrome Symposium, Orlando, Florida, USA July 25-26 2012, for “The role of SHANK3 and other 22q13.33 genes in PMS patients without chromosomal rearrangements”.
- “Gianmichele Laccetti” award for the best Italian thesis in genetic oncology.
- Co-inventor of the patent “Determination of Decreased Metabolism of Tryptophan in the Diagnosis of Autism Spectrum Disorders”, attorney docket No. GGC-4-P, Customer number 22827, patent number US 9,164,106 B2, date October 20th, 2015.

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