Publications



2022

147 – Giovannetti A, Bianco SD, Traversa A, Panzironi N, Bruselles A, Lazzari S, Liorni N, Tartaglia M, Carella M, Pizzuti A, Mazza T, Caputo V.
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
Hum Mutat. 2022 Sep;43(9):1201-1215. doi: 10.1002/humu.24399.

146 – Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella F, Manfredi G, Matti E, Spinozzi G, Olivieri C.
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
Mol Genet Genomic Med. 2022 Aug;10(8):e1972. doi: 10.1002/mgg3.1972.

145 – Guzzi P.H., Petrizzelli F, Mazza T.
Disease spreading modeling and analysis: a survey.
Brief Bioinform. 2022 Jul 18;23(4). doi: 10.1093/bib/bbac230.

144 – Genovesi ML, Torres B, Goldoni M, Salvo E, Cesario C, Majolo M, Mazza T, Piscopo C, Bernardini L.
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Front Genet. 2022;13:924362. doi: 10.3389/fgene.2022.924362.

143 – Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V.
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Mol Neurobiol. 2022 May 31;. doi: 10.1007/s12035-022-02886-4.

142 – Petrizzelli F, Guzzi PH, Mazza T.
Beyond COVID-19 pandemic: Topology-aware optimization of vaccination strategy for minimizing virus spreading.
Comput Struct Biotechnol J. 2022;20:2664-2671. doi: 10.1016/j.csbj.2022.05.040.

141 – Paparella A, Squeo GM, Di Venere E, Cardea E, Mazza T, Castellana S, Kerkhof J, McConkey H, Sadikovic B, Sinibaldi L, Digilio MC, Merla G.
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
J Hum Genet. 2022 May 18;. doi: 10.1038/s10038-022-01043-y.

140 – Biscaglia G, Cocomazzi F, Gentile M, Loconte I, Mileti A, Paolillo R, Marra A, Castellana S, Mazza T, Di Leo A, Perri F.
Real-time, computer-aided, detection-assisted colonoscopy eliminates differences in adenoma detection rate between trainee and experienced endoscopists.
Endosc Int Open. 2022 May;10(5):E616-E621. doi: 10.1055/a-1783-9678.

139 – Pezzilli S, Mazza T, Scarale MG, Tang Y, Andreozzi F, Baroni MG, Buzzetti R, Cavallo MG, Cossu E, D'Angelo P, De Cosmo S, Lamacchia O, Leonetti F, Morano S, Morviducci L, Penno G, Pozzilli P, Pugliese G, Sesti G, Doria A, Trischitta V, Prudente S.
Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.
Acta Diabetol. 2022 May;59(5):747-750. doi: 10.1007/s00592-021-01847-y.

138 – Pezzilli S, Tohidirad M, Biagini T, Scarale MG, Alberico F, Mercuri L, Mannino GC, Garofolo M, Filardi T, Tang Y, Giuffrida F, Mendonca C, Andreozzi F, Baroni MG, Buzzetti R, Cavallo MG, Cossu E, D'Angelo P, De Cosmo S, Lamacchia O, Leonetti F, Morano S, Morviducci L, Penno G, Pozzilli P, Pugliese G, Sesti G, Mazza T, Doria A, Trischitta V, Prudente S.
Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes.
Diabetes Metab. 2022 Apr 26;48(5):101353. doi: 10.1016/j.diabet.2022.101353.

137 – Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petkovic Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497.

136 – Giallongo S, Reháková D, Biagini T, Lo Re O, Raina P, Lochmanová G, Zdráhal Z, Resnick I, Pata P, Pata I, Mistrík M, de Magalhăes JP, Mazza T, Koutná I, Vinciguerra M.
Histone Variant macroH2A1.1 Enhances Nonhomologous End Joining-dependent DNA Double-strand-break Repair and Reprogramming Efficiency of Human iPSCs.
Stem Cells. 2022 Mar 3;40(1):35-48. doi: 10.1093/stmcls/sxab004.

135 – Biscaglia G, Latiano A, Castellana S, Fontana R, Gentile A, Latiano T, Corritore G, Panza A, Nardella M, Martino G, Bossa F, Perri F, Mazza T, Andriulli A, Palmieri O.
Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Inflamm Bowel Dis. 2022 Mar 2;28(3):447-454. doi: 10.1093/ibd/izab195.

134 – Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Cerňn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S.
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
J Clin Endocrinol Metab. 2022 Feb 17;107(3):668-684. doi: 10.1210/clinem/dgab790.

133 – Andriulli A, Bevilacqua A, Palmieri O, Latiano A, Fontana R, Gioffreda D, Castellana S, Mazza T, Panza A, Menzaghi C, Grandone E, di Mauro L, Decina I, Tricarico M, Musaico D, Mäki M, Isola J, Popp A, Taavela J, Petruzzi L, Sinigaglia M, Rosaria Corbo M, Lamacchia C.
Healthy and pro-inflammatory gut ecology plays a crucial role in the digestion and tolerance of a novel Gluten Friendly™ bread in celiac subjects: a randomized, double blind, placebo control in vivo study.
Food Funct. 2022 Feb 7;13(3):1299-1315. doi: 10.1039/d1fo00490e.

132 – Raffaele M, Kovacovicova K, Biagini T, Lo Re O, Frohlich J, Giallongo S, Nhan JD, Giannone AG, Cabibi D, Ivanov M, Tonchev AB, Mistrik M, Lacey M, Dzubak P, Gurska S, Hajduch M, Bartek J, Mazza T, Micale V, Curran SP, Vinciguerra M.
Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects.
Geroscience. 2022 Feb;44(1):463-483. doi: 10.1007/s11357-021-00487-y.


2021

131 – Fancello L, Guida A, Frige G, Michel Ceol AG, Babini G, Scaglione GL, Zanfardino M, Mazza T, Ferrando L, Pelicci PG, Mazzarella L.
TMBleR, a bioinformatic tool to optimize TMB estimation and predictive power.
Bioinformatics. 2021 Dec 20;. doi: 10.1093/bioinformatics/btab836.

130 – Parente P, Rossi A, Sparaneo A, Fabrizio FP, Centonza A, Taurchini M, Mazza T, Cassano M, Miscio G, Centra F, Ferretti GM, Di Micco CM, Graziano P, Muscarella LA.
Mixed Pulmonary Adenocarcinoma and Atypical Carcinoid: A Report of Two Cases of a Non-codified Entity With Biological Profile.
Front Mol Biosci. 2021;8:784876. doi: 10.3389/fmolb.2021.784876.

129 – Milone R, Cesario C, Goldoni M, Pasquariello R, Fusilli C, Giovannetti A, Giglio S, Novelli A, Caputo V, Cioni G, Mazza T, Battaglia A, Bernardini L, Battini R.
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
J Pediatr Genet. 2021 Dec;10(4):292-299. doi: 10.1055/s-0040-1716398.

128 – Sansico F, Miroballo M, Bianco DS, Tamiro F, Colucci M, Santis E, Rossi G, Rosati J, Di Mauro L, Miscio G, Mazza T, Vescovi AL, Mazzoccoli G, Giambra V, On Behalf Of Css-Covid Group.
COVID-19 Specific Immune Markers Revealed by Single Cell Phenotypic Profiling.
Biomedicines. 2021 Nov 29;9(12). doi: 10.3390/biomedicines9121794.

127 – Palmieri O, Castellana S, Biscaglia G, Panza A, Latiano A, Fontana R, Guerra M, Corritore G, Latiano T, Martino G, Mazza T, Andriulli A, Perri F, Bossa F.
Microbiome Analysis of Mucosal Ileoanal Pouch in Ulcerative Colitis Patients Revealed Impairment of the Pouches Immunometabolites.
Cells. 2021 Nov 19;10(11). doi: 10.3390/cells10113243.

126 – Castellana S, Biagini T, Parca L, Petrizzelli F, Bianco SD, Vescovi AL, Carella M, Mazza T.
A comparative benchmark of classic DNA motif discovery tools on synthetic data.
Brief Bioinform. 2021 Nov 5;22(6). doi: 10.1093/bib/bbab303.

125 – Scarale MG, Antonucci A, Cardellini M, Copetti M, Salvemini L, Menghini R, Mazza T, Casagrande V, Ferrazza G, Lamacchia O, De Cosmo S, Di Paola R, Federici M, Trischitta V, Menzaghi C.
A Serum Resistin and Multicytokine Inflammatory Pathway Is Linked With and Helps Predict All-cause Death in Diabetes.
J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4350-e4359. doi: 10.1210/clinem/dgab472.

124 – Carbone A, De Santis E, Cela O, Giambra V, Miele L, Marrone G, Grieco A, Buschbeck M, Capitanio N, Mazza T, Mazzoccoli G.
The Histone Variant MacroH2A1 Impacts Circadian Gene Expression and Cell Phenotype in an In Vitro Model of Hepatocellular Carcinoma.
Biomedicines. 2021 Aug 20;9(8). doi: 10.3390/biomedicines9081057.

123 – Chiodi V, Domenici MR, Biagini T, De Simone R, Tartaglione AM, Di Rosa M, Lo Re O, Mazza T, Micale V, Vinciguerra M.
Systemic depletion of histone macroH2A1.1 boosts hippocampal synaptic plasticity and social behavior in mice.
FASEB J. 2021 Aug;35(8):e21793. doi: 10.1096/fj.202100569R.

122 – Di Muro E, Palumbo P, Benvenuto M, Accadia M, Di Giacomo MC, Manieri S, Abate R, Tagliente M, Castellana S, Mazza T, Carella M, Palumbo O.
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Genes (Basel). 2021 Jul 23;12(8). doi: 10.3390/genes12081116.

121 – Giallongo S, Lo Re O, Lochmanová G, Parca L, Petrizzelli F, Zdráhal Z, Mazza T, Vinciguerra M.
Phosphorylation within Intrinsic Disordered Region Discriminates Histone Variant macroH2A1 Splicing Isoforms-macroH2A1.1 and macroH2A1.2.
Biology (Basel). 2021 Jul 13;10(7). doi: 10.3390/biology10070659.

120 – Frohlich J, Mazza T, Sobolewski C, Foti M, Vinciguerra M.
GDF11 rapidly increases lipid accumulation in liver cancer cells through ALK5-dependent signaling.
Biochim Biophys Acta Mol Cell Biol Lipids. 2021 Jun;1866(6):158920. doi: 10.1016/j.bbalip.2021.158920.

119 – Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7.

118 – Leone MP, Palumbo P, Saenen J, Mastroianno S, Castellana S, Amico C, Mazza T, Potenza DR, Petracca A, Castori M, Carella M, Di Stolfo G.
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Front Cardiovasc Med. 2021;8:635141. doi: 10.3389/fcvm.2021.635141.

117 – Muscarella LA, Mazza T, Fabrizio FP, Sparaneo A, D'Alessandro V, Tancredi A, Trombetta D, Centra F, Muscarella SP, Di Micco CM, Rossi A.
Neuroendocrine-Related Circulating Transcripts in Small-Cell Lung Cancers: Detection Methods and Future Perspectives.
Cancers (Basel). 2021 Mar 16;13(6). doi: 10.3390/cancers13061339.

116 – Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V.
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803.

115 – Natarelli L, Parca L, Mazza T, Weber C, Virgili F, Fratantonio D.
MicroRNAs and Long Non-Coding RNAs as Potential Candidates to Target Specific Motifs of SARS-CoV-2.
Noncoding RNA. 2021 Feb 18;7(1). doi: 10.3390/ncrna7010014.

114 – Palumbo P, Di Muro E, Accadia M, Benvenuto M, Di Giacomo MC, Castellana S, Mazza T, Castori M, Palumbo O, Carella M.
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Genes (Basel). 2021 Feb 5;12(2). doi: 10.3390/genes12020229.

113 – Guida V, Calzari L, Fadda MT, Piceci-Sparascio F, Digilio MC, Bernardini L, Brancati F, Mattina T, Melis D, Forzano F, Briuglia S, Mazza T, Bianca S, Valente EM, Salehi LB, Prontera P, Pagnoni M, Tenconi R, Dallapiccola B, Iannetti G, Corsaro L, De Luca A, Gentilini D.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci. 2021 Jan 26;22(3). doi: 10.3390/ijms22031190.

112 – Castellana S, Biagini T, Petrizzelli F, Parca L, Panzironi N, Caputo V, Vescovi AL, Carella M, Mazza T.
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
Nucleic Acids Res. 2021 Jan 8;49(D1):D1282-D1288. doi: 10.1093/nar/gkaa1032.

111 – Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8.


2020


110 – Cinque L, Angeletti C, Orrico A, Castellana S, Ferrito L, Ciuoli C, Mazza T, Castori M, Guarnieri V.
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Biomedicines. 2020 Dec 19;8(12). doi: 10.3390/biomedicines8120631.

109 – Squitieri F, Maffi S, Al Harasi S, Al Salmi Q, D'Alessio B, Capelli G, Mazza T.
Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study.
J Neurol Neurosurg Psychiatry. 2020 Dec;91(12):1359-1360. doi: 10.1136/jnnp-2020-323241.

108 – Somaschini A, Di Bella S, Cusi C, Raddrizzani L, Leone A, Carapezza G, Mazza T, Isacchi A, Bosotti R.
Mining potentially actionable kinase gene fusions in cancer cell lines with the KuNG FU database.
Sci Data. 2020 Nov 30;7(1):420. doi: 10.1038/s41597-020-00761-2.

107 – Rivas Serna IM, Romito I, Maugeri A, Lo Re O, Giallongo S, Mazzoccoli G, Oben JA, Li Volti G, Mazza T, Alisi A, Vinciguerra M.
A Lipidomic Signature Complements Stemness Features Acquisition in Liver Cancer Cells.
Int J Mol Sci. 2020 Nov 10;21(22). doi: 10.3390/ijms21228452.

106 – Squitieri F, Mazza T, Maffi S, De Luca A, AlSalmi Q, AlHarasi S, Collins JA, Kay C, Baine-Savanhu F, Landwhermeyer BG, Sabatini U, Hayden MR.
Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.
Genet Med. 2020 Nov;22(11):1903-1908. doi: 10.1038/s41436-020-0895-1.

105 – Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724.

104 – Frohlich J, Kovacovicova K, Mazza T, Emma MR, Cabibi D, Foti M, Sobolewski C, Oben JA, Peyrou M, Villarroya F, Soresi M, Rezzani R, Cervello M, Bonomini F, Alisi A, Vinciguerra M.
GDF11 induces mild hepatic fibrosis independent of metabolic health.
Aging (Albany NY). 2020 Oct 28;12(20):20024-20046. doi: 10.18632/aging.104182.

103 – Parca L, Truglio M, Biagini T, Castellana S, Petrizzelli F, Capocefalo D, Jordán F, Carella M, Mazza T.
Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis.
Gigascience. 2020 Oct 21;9(10). doi: 10.1093/gigascience/giaa115.

102 – Panza A, Castellana S, Biscaglia G, Piepoli A, Parca L, Gentile A, Latiano A, Mazza T, Perri F, Andriulli A, Palmieri O.
Transcriptome and Gene Fusion Analysis of Synchronous Lesions Reveals lncMRPS31P5 as a Novel Transcript Involved in Colorectal Cancer.
Int J Mol Sci. 2020 Sep 27;21(19). doi: 10.3390/ijms21197120.

101 – Fabrizio FP, Mazza T, Castellana S, Sparaneo A, Muscarella LA.
Epigenetic Scanning of KEAP1 CpG Sites Uncovers New Molecular-Driven Patterns in Lung Adeno and Squamous Cell Carcinomas.
Antioxidants (Basel). 2020 Sep 22;9(9). doi: 10.3390/antiox9090904.

100 – Tavano F, Fontana A, Mazza T, Gioffreda D, Biagini T, Palumbo O, Carella M, Andriulli A.
Early-Onset Diabetes as Risk Factor for Pancreatic Cancer: miRNA Expression Profiling in Plasma Uncovers a Role for miR-20b-5p, miR-29a, and miR-18a-5p in Diabetes of Recent Diagnosis.
Front Oncol. 2020;10:1567. doi: 10.3389/fonc.2020.01567.

99 – Pasculli B, Barbano R, Fontana A, Biagini T, Di Viesti MP, Rendina M, Valori VM, Morritti M, Bravaccini S, Ravaioli S, Maiello E, Graziano P, Murgo R, Copetti M, Mazza T, Fazio VM, Esteller M, Parrella P.
Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.
Front Oncol. 2020;10:1415. doi: 10.3389/fonc.2020.01415.

98 – Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336.

97 – Petrizzelli F, Biagini T, Barbieri A, Parca L, Panzironi N, Castellana S, Caputo V, Vescovi AL, Carella M, Mazza T.
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome.
Comput Struct Biotechnol J. 2020;18:2033-2042. doi: 10.1016/j.csbj.2020.07.013.

96 – Fabrizio FP, Sparaneo A, Fontana A, Mazza T, Graziano P, Pantalone A, Parente P, Centra F, Orlando N, Trombetta D, Torre A, Ferretti GM, Taurchini M, Micco CMD, Maiello E, Fazio VM, Rossi A, Muscarella LA.
Potential Prognostic Role of SPARC Methylation in Non-Small-Cell Lung Cancer.
Cells. 2020 Jun 22;9(6). doi: 10.3390/cells9061523.

95 – Caputo V, Pacilli MG, Arisi I, Mazza T, Brandi R, Traversa A, Casasanta G, Pisa E, Sonnessa M, Healey B, Moggio L, D'Onofrio M, Alleva E, Macrě S.
Genomic and physiological resilience in extreme environments are associated with a secure attachment style.
Transl Psychiatry. 2020 Jun 9;10(1):185. doi: 10.1038/s41398-020-00869-4.

94 – Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M.
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated a-SMA cytoskeleton assembly and autophagy.
Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165742. doi: 10.1016/j.bbadis.2020.165742.

93 – Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y.

92 – Mastroianno S, Palumbo P, Castellana S, Leone MP, Massaro R, Potenza DR, Mazza T, Russo A, Castori M, Carella M, Di Stolfo G.
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Ann Noninvasive Electrocardiol. 2020 May;25(3):e12687. doi: 10.1111/anec.12687.

91 – Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M.
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Genes (Basel). 2020 Mar 31;11(4). doi: 10.3390/genes11040379.

90 – Venuto S, Monteonofrio L, Cozzolino F, Monti M, Appolloni I, Mazza T, Canetti D, Giambra V, Panelli P, Fusco C, Squeo GM, Croce AI, Pucci P, Malatesta P, Soddu S, Merla G, Micale L.
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.
Cancer Lett. 2020 Mar 31;473:98-106. doi: 10.1016/j.canlet.2019.12.042.

89 – Giuffrida MG, Mastromoro G, Guida V, Truglio M, Fabbretti M, Torres B, Mazza T, De Luca A, Roggini M, Bernardini L, Pizzuti A.
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
Am J Med Genet A. 2020 Mar;182(3):508-512. doi: 10.1002/ajmg.a.61431.

88 – Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683.

87 – Palmieri O, Mazza T, Bassotti G, Merla A, Tolone S, Biagini T, Cuttitta A, Bossa F, Martino G, Latiano T, Corritore G, Gioffreda D, Palumbo O, Carella M, Panza A, Andriulli A, Latiano A.
microRNA-mRNA network model in patients with achalasia.
Neurogastroenterol Motil. 2020 Mar;32(3):e13764. doi: 10.1111/nmo.13764.

86 – Mazza T, Gioffreda D, Fontana A, Biagini T, Carella M, Palumbo O, Maiello E, Bazzocchi F, Andriulli A, Tavano F.
Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer.
Front Oncol. 2020;10:44. doi: 10.3389/fonc.2020.00044.

85 – Lo Re O, Mazza T, Giallongo S, Sanna P, Rappa F, Vinh Luong T, Li Volti G, Drovakova A, Roskams T, Van Haele M, Tsochatzis E, Vinciguerra M.
Loss of histone macroH2A1 in hepatocellular carcinoma cells promotes paracrine-mediated chemoresistance and CD4+CD25+FoxP3+ regulatory T cells activation.
Theranostics. 2020;10(2):910-924. doi: 10.7150/thno.35045.

84 – Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A.
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Mol Genet Genomic Med. 2020 Jan;8(1):e1054. doi: 10.1002/mgg3.1054.

2019


83 – Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M.
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Genes (Basel). 2019 Nov 25;10(12). doi: 10.3390/genes10120967.

82 – Mazzoccoli G, Miele L, Marrone G, Mazza T, Vinciguerra M, Grieco A.
A Role for the Biological Clock in Liver Cancer.
Cancers (Basel). 2019 Nov 11;11(11). doi: 10.3390/cancers11111778.

81 – Fusco C, Copetti M, Mazza T, Amoruso L, Mastroianno S, Nardella G, Guarnieri V, Micale L, D'Agruma L, Castori M.
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Hum Mutat. 2019 Nov;40(11):e24-e36. doi: 10.1002/humu.23851.

80 – Napolitano F, De Rosa A, Russo R, Di Maio A, Garofalo M, Federici M, Migliarini S, Ledonne A, Rizzo FR, Avallone L, Nuzzo T, Biagini T, Pasqualetti M, Mercuri NB, Mazza T, Chambery A, Usiello A.
The striatal-enriched protein Rhes is a critical modulator of cocaine-induced molecular and behavioral responses.
Sci Rep. 2019 Oct 25;9(1):15294. doi: 10.1038/s41598-019-51839-w.

79 – Picardo F, Romanelli A, Muinelo-Romay L, Mazza T, Fusilli C, Parrella P, Barbazán J, Lopez-López R, Barbano R, De Robertis M, Taffon C, Bordoni V, Agrati C, Costantini M, Ricci F, Graziano P, Maiello E, Muscarella LA, Fazio VM, Poeta ML.
Diagnostic and Prognostic Value of B4GALT1 Hypermethylation and Its Clinical Significance as a Novel Circulating Cell-Free DNA Biomarker in Colorectal Cancer.
Cancers (Basel). 2019 Oct 19;11(10). doi: 10.3390/cancers11101598.

78 – Pasculli B, Barbano R, Rendina M, Fontana A, Copetti M, Mazza T, Valori VM, Morritti M, Maiello E, Graziano P, Murgo R, Fazio VM, Esteller M, Parrella P.
Hsa-miR-210-3p expression in breast cancer and its putative association with worse outcome in patients treated with Docetaxel.
Sci Rep. 2019 Oct 17;9(1):14913. doi: 10.1038/s41598-019-51581-3.

77 – De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247.

76 – Genov N, Castellana S, Scholkmann F, Capocefalo D, Truglio M, Rosati J, Turco EM, Biagini T, Carbone A, Mazza T, Relógio A, Mazzoccoli G.
A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics.
Int J Mol Sci. 2019 Sep 17;20(18). doi: 10.3390/ijms20184585.

75 – Tolomeo D, L'Abbate A, Lonoce A, D'Addabbo P, Miccoli MF, Lo Cunsolo C, Iuzzolino P, Palumbo O, Carella M, Racanelli V, Mazza T, Ottaviani E, Martinelli G, Macchia G, Storlazzi CT.
Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes.
Cancer Genet. 2019 Sep;237:63-68. doi: 10.1016/j.cancergen.2019.06.009.

74 – Bereshchenko O, Lo Re O, Nikulenkov F, Flamini S, Kotaskova J, Mazza T, Le Pannérer MM, Buschbeck M, Giallongo C, Palumbo G, Li Volti G, Pazienza V, Cervinek L, Riccardi C, Krejci L, Pospisilova S, Stewart AF, Vinciguerra M. .
Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome.
Clin Epigenetics. 2019 Aug 22;11(1):121. doi: 10.1186/s13148-019-0724-z.

73 – Marucci A, Biagini T, Di Paola R, Menzaghi C, Fini G, Castellana S, Cardinale GM, Mazza T, Trischitta V.
Association of a homozygous GCK missense mutation with mild diabetes.
Mol Genet Genomic Med. 2019 Jul;7(7):e00728. doi: 10.1002/mgg3.728.

72 – Biagini T, Petrizzelli F, Truglio M, Cespa R, Barbieri A, Capocefalo D, Castellana S, Tevy MF, Carella M, Mazza T.
Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?
Evol Bioinform Online. 2019 May 22;15:1176934319850144. doi: 10.1177/1176934319850144. eCollection 2019.

71 – Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Acta Diabetol. 2019 May;56(5):515-523. doi: 10.1007/s00592-018-01283-5. Epub 2019 Jan 17.

70 – Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M.
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
Am J Med Genet A. 2019 May;179(5):846-851. doi: 10.1002/ajmg.a.61100. Epub 2019 Mar 1.

69 – Dallali H, Pezzilli S, Hechmi M, Sallem OK, Elouej S, Jmel H, Ben Halima Y, Chargui M, Gharbi M, Mercuri L, Alberico F, Mazza T, Bahlous A, Ben Ahmed M, Jamoussi H, Abid A, Trischitta V, Abdelhak S, Prudente S, Kefi R.
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Acta Diabetol. 2019 May;56(5):515-523. doi: 10.1007/s00592-018-01283-5. Epub 2019 Jan 17.

68 – Castellana S, Mastroianno S, Palumbo P, Palumbo O, Biagini T, Leone MP, De Luca G, Potenza DR, Amico CM, Mazza T, Russo A, Di Stolfo G, Carella M.
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
JElectrocardiol. 2019 Mar-Apr;53:95-99. doi: 10.1016/j.jelectrocard.2019.01.002. Epub 2019 Jan 2.


2018


67 – Lo Re O, Mazza T, Vinciguerra M.
Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.
Front Genet. 2018 Dec 12;9:654. doi: 10.3389/fgene.2018.00654.

66 – De Robertis M, Mazza T, Fusilli C, Loiacono L, Poeta ML, Sanchez M, Massi E, Lamorte G, Diodoro MG, Pescarmona E, Signori E, Pesole G, Vescovi AL, Garcia-Foncillas J, Fazio VM.
EphB2 stem-related and EphA2 progression-related miRNA-based networks in progressive stages of CRC evolution: clinical significance and potential miRNA drivers.
Mol Cancer. 2018 Nov 30;17(1):169. doi: 10.1186/s12943-018-0912-z.

65 – Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL.
Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies.
Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2.

64 – Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F.
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.
Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1.

63 – Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379.

62 – Castellana S, Mazza T, Capocefalo D, Genov N, Biagini T, Fusilli C, Scholkmann F, Relógio A, Hogenesch JB, Mazzoccoli G.
Systematic Analysis of Mouse Genome Reveals Distinct Evolutionary and Functional Properties Among Circadian and Ultradian Genes.
Front Physiol. 2018 Aug 23;9:1178. doi: 10.3389/fphys.2018.01178. eCollection 2018.

61 – Di Stolfo G, Palumbo P, Castellana S, Mastroianno S, Biagini T, Palumbo O, Leone MP, De Luca G, Potenza DR, Mazza T, Russo AA, Carella M.
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
J Electrocardiol. 2018 Sep - Oct;51(5):809-813. doi: 10.1016/j.jelectrocard.2018.06.005. Epub 2018 Jun 9.

60 – Lo Re O, Douet J, Buschbeck M, Fusilli C, Pazienza V, Panebianco C, Castracani CC, Mazza T, Li Volti G, Vinciguerra M.
Histone variant macroH2A1 rewires carbohydrate and lipid metabolism of hepatocellular carcinoma cells towards cancer stem cells.
Epigenetics. 2018;13(8):829-845. doi: 10.1080/15592294.2018.1514239. Epub 2018 Sep 29.

59 – Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24.

58 – Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30.

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).


2017


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, ValÄŤíková 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.


2016


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.


2015


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, Ä°ncecik 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.


2014


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.


2013


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.


2012


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


2014

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].


2012

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


2014

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