Publications by authors named "Tommaso Mazza"

100Publications

Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post- service-based study.

J Neurol Neurosurg Psychiatry 2020 Jul 31. Epub 2020 Jul 31.

Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1136/jnnp-2020-323241DOI Listing
July 2020

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.

Genet Med 2020 Jul 14. Epub 2020 Jul 14.

Centre for Molecular Medicine Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/s41436-020-0895-1DOI Listing
July 2020

Compound Phenotype Due to Recessive Variants in and Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Genes (Basel) 2020 Mar 31;11(4). Epub 2020 Mar 31.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.

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http://dx.doi.org/10.3390/genes11040379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230222PMC
March 2020

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Am J Med Genet A 2020 03 27;182(3):508-512. Epub 2019 Dec 27.

Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61431DOI Listing
March 2020

Novel Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 11 25;10(12). Epub 2019 Nov 25.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo (Foggia), Italy.

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http://dx.doi.org/10.3390/genes10120967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947605PMC
November 2019

microRNA-mRNA network model in patients with achalasia.

Neurogastroenterol Motil 2020 03 26;32(3):e13764. Epub 2019 Nov 26.

Gastroenterology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1111/nmo.13764DOI Listing
March 2020

A Role for the Biological Clock in Liver Cancer.

Cancers (Basel) 2019 Nov 11;11(11). Epub 2019 Nov 11.

Fondazione Policlinico Universitario A Gemelli-IRCCS- Catholic University of the Sacred Heart, 00168 Rome, Italy.

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http://dx.doi.org/10.3390/cancers11111778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895918PMC
November 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770795PMC
September 2019

Association of a homozygous GCK missense mutation with mild diabetes.

Mol Genet Genomic Med 2019 07 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 05 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

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

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

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

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

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

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

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

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

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

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

"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

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

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

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

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

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

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

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

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