57 – Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM.
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Eur J Hum Genet. 2018 May 25. doi: 10.1038/s41431-018-0158-7.

56 – Mazzoccoli G, De Cosmo S, Mazza T.
The Biological Clock: A Pivotal Hub in Non-alcoholic Fatty Liver Disease Pathogenesis.
Front Physiol. 2018 Mar 15;9:193.

55 – Augello G, Balasus D, Fusilli C, Mazza T, Emma MR, Giannitrapani L, Agliastro R, Cervello M, Montalto G.
Association Between MICA Gene Variants and the Risk of Hepatitis C Virus-Induced Hepatocellular Cancer in a Sicilian Population Sample.
OMICS. 2018 Apr;22(4):274-282.

54 – Frustaci A, De Luca A, Guida V, Biagini T, Mazza T, Gaudio C, Letizia C, Russo MA, Galea N, Chimenti C.
Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
J Am Heart Assoc. 2018 Feb 10;7(4).


53 – Pezzilli S, Ludovico O, Biagini T, Mercuri L, Alberico F, Lauricella E, Dallali H, Capocefalo D, Carella M, Miccinilli E, Piscitelli P, Scarale MG, Mazza T, Trischitta V, Prudente S.
Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes.
Diabetes. 2018 Jan;67(1):137-145. doi: 10.2337/db17-0867. Epub 2017 Oct 9.

52 – Williams JL, Iamartino D, Pruitt KD, Sonstegard T, Smith TPL, Low WY, Biagini T, Bomba L, Capomaccio S, Castiglioni B, Coletta A, Corrado F, Ferré F, Iannuzzi L, Lawley C, Macciotta N, McClure M, Mancini G, Matassino D, Mazza R, Milanesi M, Moioli B, Morandi N, Ramunno L, Peretti V, Pilla F, Ramelli P, Schroeder S, Strozzi F, Thibaud-Nissen F, Zicarelli L, Ajmone-Marsan P, Valentini A, Chillemi G, Zimin A.
Genome assembly and transcriptome resource for river buffalo, Bubalus bubalis (2n = 50).
Gigascience. 2017 Oct 1;6(10):1-6. doi: 10.1093/gigascience/gix088.

51 – Mazza T, Copetti M, Capocefalo D, Fusilli C, Biagini T, Carella M, De Bonis A, Mastrodonato N, Piepoli A, Pazienza V, Maiello E, di Mola FF, di Sebastiano P, Andriulli A, Tavano F.
MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater's papilla adenocarcinoma.
Oncotarget. 2017 Oct 31;8(62):105320-105339. doi: 10.18632/oncotarget.22184. eCollection 2017 Dec 1.

50 – Mazzoccoli G, Castellana S, Carella M, Palumbo O, Tiberio C, Fusilli C, Capocefalo D, Biagini T, Mazza T, Lo Muzio L
A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma.
Oncotarget. 2017 Sep 5;8(62):104913-104927. doi: 10.18632/oncotarget.20645. eCollection 2017 Dec 1.

49 – De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

48 – Lo Re O, Fusilli C, Rappa F, Van Haele M, Douet J, Pindjakova J, Rocha SW, Pata I, Valčíková B, Uldrijan S, Yeung RS, Peixoto CA, Roskams T, Buschbeck M, Mazza T, Vinciguerra M.
Induction of cancer cell stemness by depletion of macrohistone H2A1 in hepatocellular carcinoma.
Hepatology 2017 Sep. doi: 10.1002/hep.29519.

47 – Mazzoccoli G, Dagostino MP, Paroni G, Seripa D, Ciccone F, Addante F, Favuzzi G, Grandone E, Avola R, Mazza T, Fusilli C, Greco A, De Cosmo S.
Analysis of MTNR1B gene polymorphisms in relationship with IRS2 gene variants, epicardial fat thickness, glucose homeostasis and cognitive performance in the elderly.
Chronobiol Int. 2017 Jul 14:1-11:doi: 10.1080/07420528.2017.1340894.

46 – Castellana S, Fusilli C, Mazzoccoli G, Biagini T, Capocefalo D, Carella M, Vescovi AL, Mazza T.
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.
PLoS Comput Biol. 2017 Jun 22;13(6):e1005628.

45 – Daniele G, Simonetti G, Fusilli C, Iacobucci I, Lonoce A, Palazzo A, Lomiento M, Mammoli F, Marsano RM, Marasco E, Mantovani V, Quentmeier H, Drexler HG, Ding J, Palumbo O, Carella M, Nadarajah N, Perricone M, Ottaviani E, Baldazzi C, Testoni N, Papayannidis C, Ferrari S, Mazza T, Martinelli G, Storlazzi CT.
Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.
Haematologica. 2017 Apr 14. pii: haematol.2016.163022.

44 – Barbano R, Pasculli B, Rendina M, Fontana A, Fusilli C, Copetti M, Castellana S, Valori VM, Morritti M, Graziano P, Luigi C, Coco M, Picardo F, Mazza T, Evron E, Murgo R, Maiello E, Esteller M, Fazio VM, Parrella P.
Stepwise analysis of MIR9 loci identifies miR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients.
Sci Rep. 2017 Mar 27;7:45283. doi: 10.1038/srep45283.

43 – Biagini T, Chillemi G, Mazzoccoli G, Grottesi A, Fusilli C, Capocefalo D, Castellana S, Vescovi AL, Mazza T.
Molecular dynamics recipes for genome research.
Brief Bioinform. 2017 Feb 18. doi: 10.1093/bib/bbx006.

42 – Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, Palladino T, Stallone R, Mazza T, Cocchi R, Carella M.
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Mol Cell Probes. 2017 Mar 3. pii: S0890-8508(17)30020-8. doi: 10.1016/j.mcp.2017.03.001.

41 – Binda E, Visioli A, Giani F, Trivieri N, Palumbo O, Restelli S, Dezi F, Mazza T, Fusilli C, Legnani F, Carella M, Di Meco F, Duggal R, Vescovi AL.
Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells.
Cancer Res. 2017 Feb 15;77(4):996-1007. doi: 10.1158/0008-5472.CAN-16-1693.


40 – Palmieri O, Mazza T, Castellana S, Panza A, Latiano T, Corritore G, Andriulli A, Latiano A.
Inflammatory Bowel Disease Meets Systems Biology: A Multi-Omics Challenge and Frontier.
OMICS. 2016 Dec;20(12):692-698.

39 – Balasus D, Way M, Fusilli C, Mazza T, Morgan MY, Cervello M, Giannitrapani L, Soresi M, Agliastro R, Vinciguerra M, Montalto G.
The association of variants in PNPLA3 and GRP78 and the risk of developing hepatocellular carcinoma in an Italian population.
Oncotarget. 2016 Dec 27;7(52):86791-86802. doi: 10.18632/oncotarget.13558.

38 – Mandriani B, Castellana S, Rinaldi C, Manzoni M, Venuto S, Rodriguez-Aznar E, Galceran J, Nieto MA, Borsani G, Monti E, Mazza T, Merla G, Micale L.
Identification of p53-target genes in Danio rerio.
Sci Rep. 2016 Sep 1;6:32474.

37 – Palmieri O, Mazza T, Merla A, Fusilli C, Cuttitta A, Martino G, Latiano T, Corritore G, Bossa F, Palumbo O, Muscarella LA, Carella M, Graziano P, Andriulli A, Latiano A.
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.
Sci Rep. 2016 Aug 11;6:31549.

36 – De Robertis M, Loiacono L, Fusilli C, Poeta ML, Mazza T, Sanchez M, Marchionni L, Signori E, Lamorte G, Vescovi AL, Garcia-Foncillas J, Fazio VM.
Dysregulation of EGFR pathway in EphA2 cell subpopulation significantly associates with poor prognosis in colorectal cancer.
Clin Cancer Res. 2016 Jul 11. pii: clincanres.0709.2016

35 – Mazzoccoli G, Colangelo T, Panza A, Rubino R, Tiberio C, Palumbo O, Carella M, Trombetta D, Gentile A, Tavano F, Valvano MR, Storlazzi CT, Macchia G, De Cata A, Bisceglia G, Capocefalo D, Colantuoni V, Sabatino L, Piepoli A, Mazza T.
Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.
Oncotarget. 2016 Jun 14. doi: 10.18632/oncotarget.9989

34 – Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM.
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
2016 Jul;17(3):191-5. doi: 10.1007/s10048-016-0488-y.

33 – Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet. 2016 May 6. pii: jmedgenet-2016-103832.

32 – Romani M, Mehawej C, Mazza T, Mégarbané A, Valente EM.
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.
Neurol Genet. 2016 Mar 3;2(2):e61.

31 – Castellana S, Fusilli C, Mazza T.
A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.
Methods Mol Biol. 2016;1415:423-40.

30 – Mazza T, Mazzoccoli G, Fusilli C, Capocefalo D, Panza A, Biagini T, Castellana S, Gentile A, De Cata A, Palumbo O, Stallone R, Rubino R, Carella M, Piepoli A.
Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.
Nucleic Acids Res. 2016 May 19;44(9):4025-36. doi: 10.1093/nar/gkw245.

29 – Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM.
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Eur J Hum Genet. 2016 Mar 2

28 – Fontana A, Copetti M, Di Gangi IM, Mazza T, Tavano F, Gioffreda D, Mattivi F, Andriulli A, Vrhovsek U, Pazienza V.
Development of a metabolites risk score for one-year mortality risk prediction in pancreatic adenocarcinoma patients.
Oncotarget. 2016 Feb 23;7(8):8968-78. doi: 10.18632/oncotarget.7108.

27 – Borghesan M, Fusilli C, Rappa F, Panebianco C, Rizzo G, Oben JA, Mazzoccoli G, Faulkes C, Pata I, Agodi A, Rezaee F, Minogue S, Warren A, Peterson A, Sedivy JM, Douet J, Buschbeck M, Cappello F, Mazza T, Pazienza V, Vinciguerra M.
DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progression.
Cancer Res. 2016 Feb 1;76(3):594-606. doi: 10.1158/0008-5472.CAN-15-1336.

26 – Di Gangi IM, Mazza T, Fontana A, Copetti M, Fusilli C, Ippolito A, Mattivi F, Latiano A, Andriulli A, Vrhovsek U, Pazienza V.
Metabolomic profile in pancreatic cancer patients: a consensusbased approach to identify highly discriminating metabolites.
Oncotarget. 2016 Feb 2;7(5):5815-29. doi: 10.18632/oncotarget.6808.

25 – Romani M, Mehawej C, Mazza T, Mégarbané A, Valente EM.
“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory-motor polyneuropathies.
Neurol Genet April 2016 vol. 2 no. 2 e61.


24 – L'Abbate A, Tolomeo D, De Astis F, Lonoce A, Cunsolo CL, Mühlematter D, Schoumans J, Vandenberghe P, Van Hoof A, Palumbo O, Carella M, Mazza T, Storlazzi CT.
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
Mol Cancer. 2015 Dec 16;14(1):211.

23 – Mazza T, Fusilli C, Saracino C, Mazzoccoli G, Tavano F, Vinciguerra M, Pazienza V.

Functional Impact of Autophagy-Related Genes on the Homeostasis and Dynamics of Pancreatic Cancer Cell Lines.
IEEE/ACM Trans Comput Biol Bioinform. 2015 May-Jun;12(3):667-78.

22 – Rahimi M, Vinciguerra M, Daghighi M, Özcan B, Akbarkhanzadeh V, Sheedfar F, Amini M, Mazza T, Pazienza V, Motazacker MM, Mahmoudi M, De Rooij FW, Sijbrands E, Peppelenbosch MP, Rezaee F.
Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans.
Oncotarget. 2015 Oct 6;6(30):29818-32.

21 – Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati M, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

20 – Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A.
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Am J Hum Genet. 2015 Jul 2;97(1):177-85.

19 – D’Aronzo M. Vinciguerra M, Mazza T, Panebianco C, Saracino C, Pereira SP, Graziano P. and Pazienza V.
Fasting cycles potentiate the efficacy of gemcitabine treatment in in vitro and in vivo pancreatic cancer models.
Oncotarget. 2015 Jul 30;6(21):18545-57.

18 – Mazzoccoli G, Mazza T, Vinciguerra M, Castellana S, Scarpa M.
The biological clock and the molecular basis of lysosomal storage diseases.
JIMD Rep. 2015;18:93-105.

17 – S. Castellana, J. Rónai, T. Mazza.
MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants.
Hum Mutat. 2015 Feb;36(2):E2413-22.


16 – Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio CM, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Eur J Hum Genet. 2014 Nov 5. doi: 10.1038/ejhg.2014.243.

15 – Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet. 2015 Jan;134(1):123-6.

14 – M. Romani, I. Kraoua, A. Micalizzi, H. Klaa, H. Benrhouma, C. Drissi, I. Turki, S. Castellana, T. Mazza, EM. Valente, N. Gouider-Khouja.
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Eur J Neurol. 2015 Jan;22(1):178-86.

13 – M. Romani, A. Micalizzi, I. Kraoua, MT. Dotti, M. Cavallin, L. Sztriha, R. Ruta, F. Mancini, Tommaso Mazza, S. Castellana, B. Hanene, MA. Carluccio, F. Darra, A. Máté, Al. Zimmermann, N. Gouider-Khouja, EM. Valente
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Orphanet Journal of Rare Diseases 05/2014, 9(1):72.

12 – A. Latiano, O. Palmieri, F. Bossa, T. Latiano, G. Corritore, E. De Santo, G. Martino, A. Merla, M. R. Valvano, A. Cuttitta, Tommaso Mazza, V. Annese, A. Andriulli
Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: association with IL33 gene variant.
Hum Immunol. 2014 Apr;75(4):364-9.

11 – V. Pazienza, M. Borghesan, Tommaso Mazza, F. Sheedfar, C. Panebianco, R. Williams, G. Mazzoccoli, A. Andriulli, T. Nakanishi, M. Vinciguerra
SIRT1-metabolite binding histone macroH2A1.1 protects hepatocytes against lipid accumulation.
Aging (Albany NY). 2014 Jan;6(1):35-47.


10 – Menniti S, Castagna E, Mazza T
Estimating the global density of graphs by a sparseness index.
Applied Mathematics and Computation 224 (2013) 346–357.

9 – Mazzoccoli G, Tomanin R, Mazza T, D Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M.
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
BMC Medical Genomics 2013, 6:37.

8 – Mazza T, Castellana S, Andriulli A, Auffray C, Vinciguerra M, Pazienza V.
Affinity analysis of differentially expressed genes in hepatocytes expressing HCV core genotype 1b or 3a.
Bio Systems, 2013 June 6.

7 – Castellana S, Mazza T.
Multi-Sided Compression Performance Assessment of ABI SOLiD WES Data.
Algorithms, 6(2):309-318.

6 – Castellana S, Mazza T.
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.
Brief Bioinform (2013) 14 (4): 448-459.


5 – R. Bella, R. Ferri, G. Lanza, M. Cantone, M. Pennisi, V. Puglisi, L. Vinciguerra, C. Spampinato, T. Mazza, G. Malaguarnera, G. Pennisi.
Tms follow-up study in patients with vascular cognitive impairment–no dementia.
Neuroscience Letters, 2012, 534:155-9.

4 – E. Dassi, A. Malossini, A. Re, Tommaso Mazza, T. Tebaldi, L. Caputi, A. Quattrone.
AURA: Atlas of UTR Regulatory Actiity.
Bioinformatics, 28(1):142-144, 2012.

3 – S. Castellana, M. Romani, E. M. Valente, T. Mazza.
A solid quality-control analysis of AB SOLiD short-read sequencing data.
Briefings in Bioinformatics, 2012, doi: 10.1093/bib/bbs048.

2 – A. Piepoli, F. Tavano, M. Copetti, Tommaso Mazza, O. Palumbo, A. Panza, F. F. di Mola, V. Pazienza, G. Biscaglia, G. Mazzoccoli, N. Mastrodonato, M. Carella, F. Pellegrini, P. di Sebastiano, A. Andriulli.
miRNA expression profiles identify drivers in colon and pancreatic cancers.
PLoS One, 7(3):e33663.2012, 2012.

1 – Tommaso Mazza, P. Ballarini, R. Guido, D. Prandi.
The relevance of topology in parallel simulation of biological networks.
IEEE/ACM Transaction on Computational Biology and Bioinformatics (TCBB), 9(3):911-923, 2012.


Conference Proceedings


2 – T.Mazza, R. Bosotti.
Adaptive smoothing algorithm for rare fusion events detection in exon-like array data.
EMBnet.journal, to appear, 2014 [long abstract].


1 – S. Castellana, T. Mazza.
On the impact of short-reads quality on variants detection.
EMBnet.journal, 18(Suppl A):22-23, 2012 [long abstract].


Book Chapters


1 – M. cavaliere, Tommaso Mazza, S. Sedwards.
Statistical Model Checking of Membrane Systems with Peripheral Proteins: Quantifying the Role of Estrogen in Cellular Mitosis and DNA Damage,
In Applications of Membrane Computing in Systems and Synthetic Biology, Springer, edited by Pierluigi Frisco, Marian Gheorghe, Mario Pérez-Jiménez, 43-63, 2014