Research InterestsAutism 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 Publications1. “Genetics of ovulatory dysfunction and infertility: a scoping review and gene ontology analysis.
DiPietro EE, Sarasua SM, Hopkins CS, Ganakammal SR, Boccuto L, Hurwitz J.
Front Endocrinol (Lausanne). 2025 Jun 4;16:1458711. doi: 10.3389/fendo.2025.1458711. eCollection 2025.
2. “BRCA1-Associated Protein 1 and Enhancer of Zeste Homolog 2: Pathway Interaction and Therapeutic Intervention in Breast Cancer, Mesothelioma, and Lymphoma.”
West EC, Evangelista J, Campanella A, Lococo F, Sun L, Ivankovic D, Farrell CL, Parker V, Boccuto L.
JCO Precis Oncol. 2025 Jun;9:e2400845. doi: 10.1200/PO-24-00845. Epub 2025 Jun 17.
3. “Assessment of CYP2D6 gene expression in liver tissue: Variability in CYP2D6 mRNA levels within genotype-predicted metabolizer phenotype groups.”
Meaddough EL, Sarasua SM, Kunkel D, Boccuto L, Ganakammal SR, Moersen M, Farrell CL.
Chem Biol Interact. 2025 Aug 1;416:111526. doi: 10.1016/j.cbi.2025.111526. Epub 2025 Apr 23.
4. “Application of Genetic Testing for Anorexia Nervosa: An Ethical Analysis.”
Ramsay S, Allison K, Temples HS, Sarasua S, Boccuto L.
Brain Behav. 2025 Mar;15(3):e70406. doi: 10.1002/brb3.70406.
5. “A novel approach to metabolic profiling in case models of MECP2-related disorders.”
Cooley Coleman JA, Moffitt BA, Bridges WC, Jones K, May M, Skinner C, Friez MJ, Skinner SA, Schwartz CE, Boccuto L.
Metab Brain Dis. 2025 Feb 13;40(2):124. doi: 10.1007/s11011-025-01546-5.
6. “A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records.”
Schaare D, Lusk L, Karlin A, Kaufman MC, Magielski J, Sarasua SM, Allison K, Boccuto L, Helbig I.
Neurol Genet. 2025 Jan 3;11(1):e200228. doi: 10.1212/NXG.0000000000200228. eCollection 2025 Feb.
7. “Exploring the Therapeutic Potential for Breast Cancer of Phytochemicals and Secondary Metabolites in Marjoram, Thyme, and Persimmon.”
Mattingly A, Vickery Z, Ivankovic D, Farrell CL, Hakonarson H, Nguyen K, Boccuto L.
Metabolites. 2024 Nov 25;14(12):652. doi: 10.3390/metabo14120652.
8. “The intersection of inflammation and DNA damage as a novel axis underlying the pathogenesis of autism spectrum disorders.”
Jhanji M, Krall CL, Guevara A, Yoon B, Sajish M, Boccuto L, Lizarraga SB.
bioRxiv [Preprint]. 2024 Dec 11:2024.12.11.627854. doi: 10.1101/2024.12.11.627854.
9. “Gene Variant Frequencies of IDO1, IDO2, TDO, and KMO in Substance Use Disorder Cohorts.”
Contella L, Farrell CL, Boccuto L, Litwin A, Snyder ML.
Genes (Basel). 2024 Oct 29;15(11):1388. doi: 10.3390/genes15111388.
10. “PhenoMetaboDiff: R Package for Analysis and Visualization of Phenotype Microarray Data.”
Pauly R, Iqbal M, Lee N, Moffitt BA, Sarasua SM, Li L, Hubig NC, Boccuto L.
Genes (Basel). 2024 Oct 24;15(11):1362. doi: 10.3390/genes15111362.
11. “Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives.”
Russo P, Bizzarri FP, Filomena GB, Marino F, Iacovelli R, Ciccarese C, Boccuto L, Ragonese M, Gavi F, Rossi F, Savoia C, Suraci PP, Falabella R, Pandolfo SD, Napolitano L, Leoni C, Trevisan V, Palermo G, Racioppi M, Sacco E, Muselaers S, Foschi N.
Cancers (Basel). 2024 Nov 8;16(22):3766. doi: 10.3390/cancers16223766.
12. “Impact of Substance Use Disorder on Tryptophan Metabolism Through the Kynurenine Pathway: A Narrative Review.”
Contella L, Farrell CL, Boccuto L, Litwin AH, Snyder ML.
Metabolites. 2024 Nov 10;14(11):611. doi: 10.3390/metabo14110611.
13. "Living with" CACNA1A-related hemiplegic migraine, a disease concept model.
Schaare D, Allison K, Skorge K, Fox P, Lusk L, Sarasua SM, Helbig I, Boccuto L.
Front Neurol. 2024 Nov 1;15:1460187. doi: 10.3389/fneur.2024.1460187. eCollection 2024.
14. “Metabolic Dysfunction-Associated Steatotic Liver Disease in Patients with Inflammatory Bowel Diseases: A Pilot Study.”
Abenavoli L, Spagnuolo R, Scarlata GGM, Gambardella ML, Boccuto L, Méndez-Sánchez N, Luzza F.
Life (Basel). 2024 Sep 25;14(10):1226. doi: 10.3390/life14101226.
15. “The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.”
Del Baldo G, Mastronuzzi A, Cipri S, Agolini E, Matraxia M, Novelli A, Cacchione A, Serra A, Carai A, Boccuto L, Colafati GS, Di Paolo PL, Miele E, Barresi S, Alaggio R, Rossi S, Giovannoni I.
Sci Rep. 2024 Sep 13;14(1):21435. doi: 10.1038/s41598-024-71667-x.
16. “A Critical Review of the Impact of SMARCA4 Mutations on Survival Outcomes in Non-Small Cell Lung Cancer.”
Manolakos P, Boccuto L, Ivankovic DS.
J Pers Med. 2024 Jun 26;14(7):684. doi: 10.3390/jpm14070684.
17. “Genetic factors associated with hidradenitis suppurativa, a literature review.”
Eble SM, Wisco OJ, Boccuto L, Laffin B, Parker VG, Davis NJ, Temples HS.
Int J Womens Dermatol. 2024 Jun 14;10(2):e158.
18. “Phelan-McDermid Syndrome-SHANK3 Related.”
Phelan K, Rogers RC, Boccuto L.
In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. 2005 May 11 [updated 2024 Jun 6]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301377.
19. “Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.”
Pérez-Cano L, Boccuto L, Sirci F, Hidalgo JM, Valentini S, Bosio M, Liogier D'Ardhuy X, Skinner C, Cascio L, Srikanth S, Jones K, Buchanan CB, Skinner SA, Gomez-Mancilla B, Hyvelin JM, Guney E, Durham L.
Biomedicines. 2024 Apr 30;12(5):991. doi: 10.3390/biomedicines12050991. PMID: 38790952; PMCID: PMC11117897.
20. “Evaluating User Experience and DNA Yield from Self-Collection Devices.”
Blommel JH, Roforth MM, Jerde CR, Karsten CA, Bridgeman AR, Voss JS, Boccuto L, Ivankovic DS, Sarasua SM, Kipp BR, Murphy SJ.
J Appl Lab Med. 2024 May 20:jfae030. doi: 10.1093/jalm/jfae030. Epub ahead of print. PMID: 38767175.
21. “Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review.”
Ramsay S, Allison K, Temples HS, Boccuto L, Sarasua SM.
J Eat Disord. 2024 Apr 29;12(1):53. doi: 10.1186/s40337-024-01009-9.
PMID: 38685102.
22. “The Role of Cytokines in the Pathogenesis and Treatment of Alcoholic Liver Disease.”
Scarlata GGM, Colaci C, Scarcella M, Dallio M, Federico A, Boccuto L, Abenavoli L.
Diseases. 2024 Mar 29;12(4):69. doi: 10.3390/diseases12040069.
PMID: 38667527.
23. “BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.”
West EC, Chiappetta M, Mattingly AA, Congedo MT, Evangelista J, Campanella A, Sassorossi C, Flamini S, Rossi T, Pistoni M, Abenavoli L, Margaritora S, Lococo F, Boccuto L.
Clin Genet. 2024 Mar 20. doi: 10.1111/cge.14507. Epub ahead of print. PMID: 38506155.
24. “A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.”
Cipri S, Del Baldo G, Carai A, Cacchione A, Agolini E, Novelli A, Rossi S, Colafati GS, Boccuto L, Mastronuzzi A.
Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12968. doi: 10.1111/nan.12968. PMID: 38477379.
25. “Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.”
Mitz AR, Boccuto L, Thurm A.
Clin Genet. 2024 Feb 27. doi: 10.1111/cge.14503. Epub ahead of print. PMID: 38414139.
26. “The genetic susceptibility in the development of malignant pleural mesothelioma: somatic and germline variants, clinicopathological features and implication in practical medical/surgical care: a narrative review.”
Congedo MT, West EC, Evangelista J, Mattingly AA, Calabrese G, Sassorossi C, Nocera A, Chiappetta M, Flamini S, Abenavoli L, Margaritora S, Boccuto L, Lococo F.
J Thorac Dis. 2024 Jan 30;16(1):671-687. doi: 10.21037/jtd-23-611. Epub 2024 Jan 10. PMID: 38410609; PMCID: PMC10894363.
27. “Therapeutic success in primary biliary cholangitis and gut microbiota: a safe highway?”
Abenavoli L, Scarlata GG, Scarpellini E, Procopio AC, Ponziani FR, Boccuto L, Cetkovic N, Luzza F.
Minerva Gastroenterol (Torino). 2024 Jan 19. doi: 10.23736/S2724-5985.23.03590-8. Online ahead of print. PMID: 38240684
28. “Targeted therapy for pediatric central nervous system tumors harboring mutagenic tropomyosin receptor kinases.”
Cipri S, Fabozzi F, Del Baldo G, Milano GM, Boccuto L, Carai A, Mastronuzzi A.
Front Oncol. 2023 Dec 7;13:1235794. doi: 10.3389/fonc.2023.1235794. eCollection 2023. PMID: 38144536 Free PMC article. Review.
29. “SARS-CoV-2 emergency use authorization published sensitivity differences do not correlate with positivity rate in a hospital/reference laboratory setting.”
Blommel JH, Boccuto L, Ivankovic DS, Sarasua SM, Kipp BR, Karon BS.
Diagn Microbiol Infect Dis. 2024 Feb;108(2):116157. doi: 10.1016/j.diagmicrobio.2023.116157. Epub 2023 Dec 10. PMID: 38101236 Review.
30. “A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.”
Coovadia A, Boccuto L, Chang Y, DeLuca J.
PLoS One. 2023 Nov 30;18(11):e0295010. doi: 10.1371/journal.pone.0295010. eCollection 2023. PMID: 38032981 Free PMC article.
31. “Ultrasound Prevalence and Clinical Features of Nonalcoholic Fatty Liver Disease in Patients with Inflammatory Bowel Diseases: A Real-Life Cross-Sectional Study.”
Abenavoli L, Spagnuolo R, Scarlata GGM, Scarpellini E, Boccuto L, Luzza F.
Medicina (Kaunas). 2023 Nov 1;59(11):1935. doi: 10.3390/medicina59111935. PMID: 38003983 Free PMC article.
32. “Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia.”
Shah S, Sarasua SM, Boccuto L, Dean BC, Wang L.
Genes (Basel). 2023 Oct 26;14(11):1998. doi: 10.3390/genes14111998. PMID: 38002941
33. “Commentary: Case report: Mesothelioma and BAP1 tumor predisposition syndrome: implications for public health.”
Sassorossi C, Chiappetta M, Congedo MT, Flamini S, Campanella A, Evangelista J, Iuliano R, Boccuto L, Lococo F.
Front Oncol. 2023 Oct 16;13:1279786. doi: 10.3389/fonc.2023.1279786. eCollection 2023.
34. “Effects of Origanum majorana on Breast Cancer Cells: An Alternative to Chemotherapy?”
Sanders Z, Moffitt BA, Treaster M, Larkins A, Khulordava N, Benjock J, Spencer J, Henrie K, Wurst MJ, Broom A, Tamez N, DeRosa G, Campbell M, Keller E, Powell A, Weinbrenner D, Abenavoli L, Edenfield WJ, Chung K, Boccuto L, Ivankovic D.
Metabolites. 2023 Oct 16;13(10):1083. doi: 10.3390/metabo13101083.
35. “Liver Damage and Impaired Coagulation in COVID-19 Patients: A Case Series.”
Abenavoli L, Aquila I, Sacco MA, Scarlata GGM, Procopio AC, Boccuto L, Scarpellini E, Greco M, Foti DP, Ricci P, Luzza F.
Diseases. 2023 Oct 13;11(4):141. doi: 10.3390/diseases11040141.
36. “Pancreatic Cancer and the Family Connection: The Role of Advanced Practitioners in Screening and Educating Genetically At-Risk Individuals.”
Lowe T, Deluca J, Abenavoli L, Boccuto L.
J Adv Pract Oncol. 2023 Sep;14(6):533-539. doi: 10.6004/jadpro.2023.14.6.6. Epub 2023 Sep 1.
37. “Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.”
McCoy MD, Sarasua SM, DeLuca JM, Davis S, Rogers RC, Phelan K, Boccuto L.
Pediatr Nephrol. 2023 Sep 21. doi: 10.1007/s00467-023-06146-y.
38. “SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome.”
Caroleo AM, Rotulo S, Agolini E, Macchiaiolo M, Boccuto L, Antonelli M, Colafati GS, Cacchione A, Megaro G, Carai A, De Ioris MA, Lodi M, Tornesello A, Simone V, Torroni F, Cinalli G, Mastronuzzi A.
Front Mol Neurosci. 2023 Aug 24;16:1228389. doi: 10.3389/fnmol.2023.1228389. eCollection 2023.
39. “Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families.”
Lowe T, DeLuca J, Abenavoli L, Boccuto L.
Hered Cancer Clin Pract. 2023 Sep 8;21(1):17. doi: 10.1186/s13053-023-00261-5.
40. “Gut Microbiota and Critically Ill Patients: Immunity and Its Modulation via Probiotics and Immunonutrition.”
Abenavoli L, Scarpellini E, Paravati MR, Scarlata GGM, Boccuto L, Tilocca B, Roncada P, Luzza F.
Nutrients. 2023;15(16):3569. Published 2023 Aug 13. doi:10.3390/nu15163569
41. “Gut Microbiota and Liver Transplantation: Immune Mechanisms behind the Rejection.”
Abenavoli L, Scarlata GGM, Paravati MR, Boccuto L, Luzza F, Scarpellini E.
Biomedicines. 2023;11(7):1792. Published 2023 Jun 23. doi:10.3390/biomedicines11071792.
42. “Unlocking the power of precision medicine for pediatric low-grade gliomas: molecular characterization for targeted therapies with enhanced safety and efficacy.”
Cipri S, Del Baldo G, Fabozzi F, Boccuto L, Carai A, Mastronuzzi A.
Front Oncol. 2023 Jun 15;13:1204829. doi: 10.3389/fonc.2023.1204829. eCollection 2023.
43. “Race: How the Post-Genomic Era Has Unmasked a Misconception Promoted by Healthcare.”
Schaare D, Abenavoli L, Boccuto L.
Medicina (Kaunas). 2023 Apr 28;59(5):861. doi: 10.3390/medicina59050861.
44. “Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.”
Smith MS, Sarasua SM, Rogers C, Phelan K, Boccuto L.
Clin Genet. 2023 May 26. doi: 10.1111/cge.14364. Online ahead of print.
45. “Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.”
Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L.
Clin Genet. 2023;10.1111/cge.14361. doi:10.1111/cge.14361
46. “Identification and diagnosis of long COVID-19: A scoping review.”
Srikanth S, Boulos JR, Dover T, Boccuto L, Dean D.
Prog Biophys Mol Biol. 2023;182:1-7. doi:10.1016/j.pbiomolbio.2023.04.008
47. “Human Genes Involved in the Interaction between Host and Gut Microbiome: Regulation and Pathogenic Mechanisms.”
Boccuto L, Tack J, Ianiro G, Abenavoli L, Scarpellini E.
Genes (Basel). 2023;14(4):857. Published 2023 Mar 31. doi:10.3390/genes14040857
48. “The Use of Peppermint Oil in Gastroenterology.”
Scarpellini E, Broeders B, Schol J, Santori P, Addarii M, Boccuto L, Carbone F, Abenavoli L, Tack J.
Curr Pharm Des. 2023 Mar 30. doi: 10.2174/1381612829666230328163449. Online ahead of print. PMID: 36994979
49. “Metabolic-Dysfunction-Associated Fatty Liver Disease and Gut Microbiota: From Fatty Liver to Dysmetabolic Syndrome.”
Abenavoli L, Scarlata GGM, Scarpellini E, Boccuto L, Spagnuolo R, Tilocca B, Roncada P, Luzza F.
Medicina (Kaunas). 2023 Mar 17;59(3):594. doi: 10.3390/medicina59030594.
PMID: 36984595 Free PMC article. Review.
50. “Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.”
Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder KE, Weisensee K, Boccuto L.
Genes (Basel). 2023 Feb 21;14(3):540. doi: 10.3390/genes14030540. PMID: 36980813 Free PMC article. Review.
51. “Association between intestinal microflora and obesity.”
Savytska M, Kozyk M, Strubchevska K, Yosypenko K, Falalyeyeva T, Kobyliak N, Boccuto L, Pellicano R, Fagoonee S, Scarpellini E, Abenavoli L.
Minerva Gastroenterol (Torino). 2023 Mar 21. doi: 10.23736/S2724-5985.23.03379-X. Online ahead of print. PMID: 36943206
52. “Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.
Moffitt BA, Sarasua SM, Ivankovic D, Ward LD, Valentine K, Bennett WE Jr, Rogers C, Phelan K, Boccuto L.
Genes (Basel). 2023 Feb 15;14(2):490. doi: 10.3390/genes14020490.
53. “Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Schaare D, Sarasua SM, Lusk L, Parthasarathy S, Wang L, Helbig I, Boccuto L.
Genes (Basel). 2023;14(2):400. Published 2023 Feb 3. doi:10.3390/genes14020400
54. “Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.”
Moffitt BA, Sarasua SM, Ivankovic D, Ward LD, Valentine K, Bennett WE Jr, Rogers C, Phelan K, Boccuto L.
Genes (Basel). 2023;14(2):490. Published 2023 Feb 15. doi:10.3390/genes14020490
55. “Efficacy and safety of fecal microbiota transplantation via colonoscopy as add-on therapy in patients with mild-to-moderate ulcerative colitis: A randomized clinical trial.”
Tkach S, Dorofeyev A, Kuzenko I, Falalyeyeva T, Tsyryuk O, Kovalchuk O, Kobyliak N, Abenavoli L, Boccuto L.
Front Med (Lausanne). 2023 Jan 12;9:1049849. doi: 10.3389/fmed.2022.1049849. eCollection 2022. PMID: 36714101 Free PMC article.
56. “Authorized SARS-CoV-2 molecular methods show wide variability in the limit of detection.”
Blommel JH, Jenkinson G, Binnicker MJ, Karon BS, Boccuto L, Ivankovic DS, Sarasua SM, Kipp BR.
Diagn Microbiol Infect Dis. 2022 Dec 15;105(3):115880. doi: 10.1016/j.diagmicrobio.2022.115880. Online ahead of print. PMID: 36669396 Free PMC article.
57. “Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.”
Cacchione A, Fabozzi F, Carai A, Colafati GS, Baldo GD, Rossi S, Diana M, Megaro G, Milano GM, Macchiaiolo M, Crocoli A, De Ioris MA, Boccuto L, Secco DE, Zama M, Agolini E, Tomà P, Mastronuzzi A.
Cancer Control. 2023 Jan-Dec; 30: 10732748221144930. doi: 10.1177/10732748221144930. PMID: 36598023 Free PMC article.
58. “Gut Microbiota in Non-Alcoholic Fatty Liver Disease Patients with Inflammatory Bowel Diseases: A Complex Interplay.”
Abenavoli L, Giubilei L, Procopio AC, Spagnuolo R, Luzza F, Boccuto L, Scarpellini E.
Nutrients. 2022 Dec 15;14(24):5323. doi: 10.3390/nu14245323. PMID: 36558483 Free PMC article. Review.
59. “Cerebellar mutism syndrome: From pathophysiology to rehabilitation.”
Fabozzi F, Margoni S, Andreozzi B, Musci MS, Del Baldo G, Boccuto L, Mastronuzzi A, Carai A.
Front Cell Dev Biol. 2022 Dec 2;10:1082947. doi: 10.3389/fcell.2022.1082947. eCollection 2022. PMID: 36531947 Free PMC article. Review.
60. “Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth Spectrum disorders.”
Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L.
Hum Mol Genet. 2022 Dec 2:ddac296. doi: 10.1093/hmg/ddac296. Online ahead of print. PMID: 36458889
61. “Nutritional Support in Acute Liver Failure.”
Abenavoli L, Maurizi V, Boccuto L, Di Berardino A, Giostra N, Santori P, Scarcella ML, Procopio AC, Rasetti C, Scarpellini E.
Diseases. 2022 Nov 18;10(4):108. doi: 10.3390/diseases10040108.
62. “Fecal Microbiota Transplantation in NAFLD Treatment.”
Abenavoli L, Maurizi V, Rinninella E, Tack J, Di Berardino A, Santori P, Rasetti C, Procopio AC, Boccuto L, Scarpellini E.
Medicina (Kaunas). 2022 Oct 30;58(11):1559. doi: 10.3390/medicina58111559.
63. “How Genetics and Genomics Advances Are Rewriting Pediatric Cancer Research and Clinical Care.”
Cipri S, Abenavoli L, Boccuto L, Del Baldo G, Mastronuzzi A.
Medicina (Kaunas). 2022;58(10):1386. Published 2022 Oct 2. doi:10.3390/medicina58101386
64. “Alagille Syndrome and Its Clinical and Laboratory Features: A Case Report.”
Abenavoli L, Boccuto L, Corea A, Gambardella M, Spagnuolo R, Luzza F.
Livers 2022, 2, 258–263. https://doi.org/10.3390/livers2040021
65. “Incidental Findings in Study Participants: What Is the Researcher's Obligation?”
Schaare D, Ward LD, Boccuto L.
Genes (Basel). 2022;13(10):1702. Published 2022 Sep 22. doi:10.3390/genes13101702
66. “Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature.”
Moffitt BA, Sarasua SM, Ward L, Ivankovic D, Valentine K, Rogers C, Phelan K, Boccuto L.
Mol Genet Genomic Med. 2022 Aug 23:e2035. doi: 10.1002/mgg3.2035. Epub ahead of print.
67. “TOMM40 genetic variants associated with healthy aging and longevity: a systematic review.”
Chen S, Sarasua SM, Davis NJ, DeLuca JM, Boccuto L, Thielke SM, Yu CE.
BMC Geriatr. 2022 Aug 13;22(1):667. doi: 10.1186/s12877-022-03337-4.
68. “The Legacy of Renato Dulbecco in the Post-Genomic Era.”
Abenavoli L, Boccuto L.
Medicina (Kaunas). 2022 Jul 22;58(8):974. doi: 10.3390/medicina58080974.
69. “State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.”
McCoy MD, Sarasua SM, DeLuca JM, Davis S, Phelan K, Rogers RC, Boccuto L.
Genes (Basel). 2022 Jun 10;13(6):1042. doi: 10.3390/genes13061042.
70. “Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variant.”
Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A.
Am J Med Genet A. 2022 Jun 11. doi: 10.1002/ajmg.a.62869. Online ahead of print.
71. “Clinical findings from the landmark MEF2C-related disorders natural history study.”
Cooley Coleman JA, Sarasua SM, Moore HW, Boccuto L, Cowan CW, Skinner SA, DeLuca JM.
Mol Genet Genomic Med. 2022 Apr 13:e1919. doi: 10.1002/mgg3.1919.
72. “Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.”
Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K.
Genes (Basel). 2022 Mar 17;13(3):528. doi: 10.3390/genes13030528.
73. “Phelan-McDermid syndrome: a classification system after 30 years of experience.”
Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE Jr, Winrow CJ, Garrison SR, Toro R, Bourgeron T.
Orphanet J Rare Dis. 2022 Jan 29;17(1):27. doi: 10.1186/s13023-022-02180-5.
74. “Current Status and Future Therapeutic Options for Fecal Microbiota Transplantation.”
Tkach S, Dorofeyev A, Kuzenko I, Boyko N, Falalyeyeva T, Boccuto L, Scarpellini E, Kobyliak N, Abenavoli L.
Medicina (Kaunas). 2022 Jan 6;58(1):84. doi: 10.3390/medicina58010084.
75. “A new test for autism spectrum disorder: Metabolic data from different cell types.”
Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L.
Data Brief. 2021 Nov 23;39:107598. doi: 10.1016/j.dib.2021.107598. eCollection 2021 Dec. PMID: 34877376 Free PMC article.
76. “Crohn disease: Identification, diagnosis, and clinical management.”
Snyder EF, Davis S, Aldrich K, Veerabagu M, Larussa T, Abenavoli L, Boccuto L.
Nurse Pract. 2021 Dec 1;46(12):22-30. doi: 10.1097/01.NPR.0000798212.61425.4f. PMID: 34808643
77. “Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.”
Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, DuPont B, Sarasua SM, Boccuto L.
Clin Genet. 2021 Oct 19. doi: 10.1111/cge.14074.
78. “Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.”
Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L.
Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192.
79. “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
80. “Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder.”
Pauly R, Cascio L, Srikanth S, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L.
Research in Autism Spectrum Disorders, Volume 85, 2021, 101790, ISSN 1750-9467, https://doi.org/10.1016/j.rasd.2021.101790
81. “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.
82. “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.
83. “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.
84. “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.
85. “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.
86. “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.
87. “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.
88. “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
89. “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
90. “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
91. “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
92. “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.
93. “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.
94. “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.
95. “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.
96. “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.
97. “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
98. “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.
99. “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.
100. “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. Honors and Awards- Outstanding Journal Publication 2021, College of Behavioral, Social, and Health Sciences for “Identification of 22q13 genes most likely to Contribute to Phelan-McDermid Syndrome”.
- 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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