Tommaso Mazza

Tommaso Mazza

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Tommaso Mazza

Tommaso Mazza

Publications by authors named "Tommaso Mazza"

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Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Na 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.

J Electrocardiol 2018 Sep - Oct;51(5):809-813. Epub 2018 Jun 9.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00220736183029
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http://dx.doi.org/10.1016/j.jelectrocard.2018.06.005DOI Listing
October 2019

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics.

Int J Mol Sci 2019 Sep 17;20(18). Epub 2019 Sep 17.

Division of Internal Medicine and Chronobiology Unit, Fondazione IRCCS "Casa Sollievo della Sofferenza", 71013 San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.3390/ijms20184585DOI Listing
September 2019

Association of a homozygous GCK missense mutation with mild diabetes.

Mol Genet Genomic Med 2019 Jul 14;7(7):e00728. Epub 2019 Jun 14.

Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/mgg3.728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625123PMC
July 2019

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Am J Med Genet A 2019 May 1;179(5):846-851. Epub 2019 Mar 1.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.61100DOI Listing
May 2019

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways.

Biochim Biophys Acta Gen Subj 2019 02 5;1863(2):491-501. Epub 2018 Dec 5.

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013, San Giovanni Rotondo, Foggia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2018.12.001DOI Listing
February 2019

Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.

Front Genet 2018 12;9:654. Epub 2018 Dec 12.

International Clinical Research Center, St Anne's University Hospital, Brno, Czechia.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00654
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http://dx.doi.org/10.3389/fgene.2018.00654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305994PMC
December 2018

Molecular dynamics recipes for genome research.

Brief Bioinform 2018 09;19(5):853-862

IRCCS Casa Sollievo della Sofferenza, Bioinformatics unit, viale Regina Margherita, Rome, Italy.

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http://dx.doi.org/10.1093/bib/bbx006DOI Listing
September 2018

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.

Eur J Hum Genet 2018 07 25;26(7):928-929. Epub 2018 May 25.

Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1038/s41431-018-0158-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018709PMC
July 2018

Association Between MICA Gene Variants and the Risk of Hepatitis C Virus-Induced Hepatocellular Cancer in a Sicilian Population Sample.

OMICS 2018 04 27;22(4):274-282. Epub 2018 Mar 27.

1 Institute of Biomedicine and Molecular Immunology "Alberto Monroy ," National Research Council (CNR), Palermo, Italy .

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http://dx.doi.org/10.1089/omi.2017.0215DOI Listing
April 2018

The Biological Clock: A Pivotal Hub in Non-alcoholic Fatty Liver Disease Pathogenesis.

Front Physiol 2018 15;9:193. Epub 2018 Mar 15.

Bioinformatics Unit, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.3389/fphys.2018.00193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890189PMC
March 2018

Induction of cancer cell stemness by depletion of macrohistone H2A1 in hepatocellular carcinoma.

Hepatology 2018 02 2;67(2):636-650. Epub 2018 Jan 2.

Center for Translational Medicine, International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.

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http://dx.doi.org/10.1002/hep.29519DOI Listing
February 2018

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

Methods Mol Biol 2016 ;1415:423-40

IRCCS Casa Sollievo della Sofferenza, Viale Regina Margherita 261, 00198, Rome, Italy.

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http://dx.doi.org/10.1007/978-1-4939-3572-7_22DOI Listing
December 2017

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Mol Cell Probes 2017 06 3;33:24-27. Epub 2017 Mar 3.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2017.03.001DOI Listing
June 2017

Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells.

Cancer Res 2017 02 23;77(4):996-1007. Epub 2016 Dec 23.

IRCSS Casa Sollievo della Sofferenza, ISBReMIT- Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies, Italy.

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http://dx.doi.org/10.1158/0008-5472.CAN-16-1693DOI Listing
February 2017

Inflammatory Bowel Disease Meets Systems Biology: A Multi-Omics Challenge and Frontier.

OMICS 2016 12;20(12):692-698

1 Division of Gastroenterology, IRCCS "Casa Sollievo della Sofferenza" Hospital , San Giovanni Rotondo, Italy .

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http://dx.doi.org/10.1089/omi.2016.0147DOI Listing
December 2016

Identification of p53-target genes in Danio rerio.

Sci Rep 2016 09 1;6:32474. Epub 2016 Sep 1.

Medical Genetics Unit, I.R.C.C.S. "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, 71013, Italy.

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http://dx.doi.org/10.1038/srep32474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007497PMC
September 2016

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Neurogenetics 2016 07 2;17(3):191-5. Epub 2016 Jun 2.

Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Via Salvador Allende, 84081, Baronissi, Salerno, Italy.

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http://dx.doi.org/10.1007/s10048-016-0488-yDOI Listing
July 2016

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.

Nucleic Acids Res 2016 05 11;44(9):4025-36. Epub 2016 Apr 11.

Division of Epidemiology and Health Statistics, IRCCS Scientific Institute and Regional General Hospital 'Casa Sollievo della Sofferenza', San Giovanni Rotondo (FG), Italy

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http://dx.doi.org/10.1093/nar/gkw245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872111PMC
May 2016

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Neurol Genet 2016 Apr 3;2(2):e61. Epub 2016 Mar 3.

CSS-Mendel Institute (M.R., T.M., E.M.V.), IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Division of Immunology (C.M.), Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA; Institut Jérôme Lejeune (A.M.), Paris, France; and Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830194PMC
April 2016

DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progression.

Cancer Res 2016 Feb 15;76(3):594-606. Epub 2016 Jan 15.

Institute for Liver and Digestive Health, Royal Free Hospital, University College London, London, United Kingdom. Gastroenterology Unit, IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, Italy. Euro-Mediterranean Institute of Science and Technology (IEMEST), Palermo, Italy. School of Science and Technology, Nottingham Trent University, Nottingham, United Kingdom.

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http://dx.doi.org/10.1158/0008-5472.CAN-15-1336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785885PMC
February 2016

The biological clock and the molecular basis of lysosomal storage diseases.

JIMD Rep 2015 13;18:93-105. Epub 2015 Jan 13.

Division of Internal Medicine and Chronobiology Unit, Department of Medical Sciences, IRCCS Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S.Giovanni Rotondo, (FG), Italy,

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http://dx.doi.org/10.1007/8904_2014_354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361918PMC
March 2015

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

Hum Mutat 2015 Feb 17;36(2):E2413-22. Epub 2014 Dec 17.

IRCCS Casa Sollievo della Sofferenza, Istituto Mendel, Bioinformatics Unit. Viale Regina Margherita, 261. 00198, Roma, Italy.

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http://dx.doi.org/10.1002/humu.22720DOI Listing
February 2015

A solid quality-control analysis of AB SOLiD short-read sequencing data.

Brief Bioinform 2013 Nov 9;14(6):684-95. Epub 2012 Aug 9.

IRCCS Casa Sollievo della Sofferenza, Mendel. Tel.: +39 0644160526; Fax: +39 0644160538;

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http://dx.doi.org/10.1093/bib/bbs048DOI Listing
November 2013

Affinity analysis of differentially expressed genes in hepatocytes expressing HCV core genotype 1b or 3a.

Biosystems 2013 Oct 3;114(1):64-8. Epub 2013 Jun 3.

Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza - Mendel Laboratory, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03032647130013
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http://dx.doi.org/10.1016/j.biosystems.2013.05.009DOI Listing
October 2013

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

BMC Med Genomics 2013 Oct 2;6:37. Epub 2013 Oct 2.

Department of Medical Sciences, Division of Internal Medicine and Chronobiology Unit, IRCCS Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S,Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1186/1755-8794-6-37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851237PMC
October 2013

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.

Brief Bioinform 2013 Jul 15;14(4):448-59. Epub 2013 Mar 15.

University Aldo Moro, Bari, Italy.

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http://dx.doi.org/10.1093/bib/bbt013DOI Listing
July 2013

TMS follow-up study in patients with vascular cognitive impairment-no dementia.

Neurosci Lett 2013 Feb 28;534:155-9. Epub 2012 Dec 28.

Department GF Ingrassia, Section of Neurosciences, University of Catania, Via Santa Sofia, 78-95123 Catania, Italy.

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http://dx.doi.org/10.1016/j.neulet.2012.12.017DOI Listing
February 2013

High performance computational systems biology.

Authors:
Tommaso Mazza

IEEE/ACM Trans Comput Biol Bioinform 2012 May-Jun;9(3):641-2

Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini 1, 71013 San Giovanni Rotondo-FG IT, Italy.

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http://dx.doi.org/10.1109/TCBB.2012.42DOI Listing
September 2012

The Relevance of Topology in Parallel Simulation of Biological Networks.

IEEE/ACM Trans Comput Biol Bioinform 2012 May-Jun;9(3):911-923. Epub 2012 Jan 30.

IRCCS Casa Sollievo della Sofferenza, Rome.

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http://dx.doi.org/10.1109/TCBB.2012.27DOI Listing
January 2012

Estimating the divisibility of complex biological networks by sparseness indices.

Brief Bioinform 2010 May 11;11(3):364-74. Epub 2010 Jan 11.

The Microsoft Research, University of Trento Centre for Computational and Systems Biology, Piazza Manci 17, 38123 Povo, Trento, Italy.

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http://dx.doi.org/10.1093/bib/bbp060DOI Listing
May 2010

Editorial: Accelerating systems biology.

Authors:
Tommaso Mazza

Brief Bioinform 2010 May;11(3):267-9

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http://dx.doi.org/10.1093/bib/bbq012DOI Listing
May 2010

Snazer: the simulations and networks analyzer.

BMC Syst Biol 2010 Jan 7;4. Epub 2010 Jan 7.

The Microsoft Research University of Trento, CoSBi, Trento, Italy.

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http://dx.doi.org/10.1186/1752-0509-4-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880970PMC
January 2010

Taming the complexity of biological pathways through parallel computing.

Brief Bioinform 2009 May 1;10(3):278-88. Epub 2009 Apr 1.

The Microsoft Research - University of Trento Centre for Computational and Systems Biology, Piazza Manci 17 38100 Povo, Trento, Italy.

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http://dx.doi.org/10.1093/bib/bbp020DOI Listing
May 2009

Cyto-Sim: a formal language model and stochastic simulator of membrane-enclosed biochemical processes.

Bioinformatics 2007 Oct 13;23(20):2800-2. Epub 2007 Sep 13.

Microsoft Research-University of Trento Centre for Computational & Systems Biology, Italy.

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http://dx.doi.org/10.1093/bioinformatics/btm416DOI Listing
October 2007

Using ontologies in PROTEUS for modeling proteomics data mining applications.

Stud Health Technol Inform 2005 ;112:17-26

Magna Graecia University, 88100 Catanzaro, Italy.

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July 2005