Publications
Publications
2024
Rossano Atzeni; Matteo Massidda; Enrico Pieroni; Vincenzo Rallo; Massimo Pisu; Andrea Angius.
A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer
International Journal of Molecular Sciences, 2024, 25(15), 8044. doi:10.3390/ijms25158044
2023
Danesino, Cesare, Monica Gualtierotti, Matteo Origi, Angelina Cistaro, Michela Malacarne, Matteo Massidda, Katia Bencardino, Domenico Coviello, Giovanni Albani, Irene Giovanna Schiera, Alexandra Liava and Andrea Guala.
Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome
Diseases 2024, 12(1), 9. doi:10.3390/diseases12010009
Grossi A. , Rusmini M. , Cusano R. , Massidda M. , Santamaria G. , Napoli F. , Angelelli A. , Fava D. , Uva P. , Ceccherini I. , Maghnie M.
Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
Frontiers in Genetics, Sec. Genetics of Common and Rare Diseases. 2023,14. doi:10.3389/fgene.2023.1031074
Wen, Xiaofen, Donatella Coradduzza, Jiaxin Shen, Antonio Mario Scanu, Maria Rosaria Muroni, Matteo Massidda, Vincenzo Rallo, Ciriaco Carru, Andrea Angius, and Maria Rosaria De Miglio.
Harnessing Minimal Residual Disease as a Predictor for Colorectal Cancer: Promising Horizons Amidst Challenges
Medicina 2023, 59(10), 1886. doi:10.3390/medicina59101886
Roberto Cherchi, Roberto Cusano, Sandro Orrù, Paolo A Ferrari, Matteo Massidda, Giorgio Fotia, Sara De Matteis and Pierluigi Cocco.
Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study
Epigenetics Insights. 2023;16. doi:10.1177/25168657231160985
2022
Atzeni, R., Massidda, M., Fotia, G., & Uva, P.
VariantAlert: A web-based tool to notify updates in genetic variant annotations
Human Mutation, 1– 8. doi:10.1002/humu.24495
Dattilo A, Ceccarini G, Scabia G, Magno S, Quintino L, Pelosini C, Salvetti G, Cusano R, Massidda M, Montanelli L, Gilio D, Gatti G, Giacomina A, Costa M, Santini F, Maffei M.
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease
Frontiers in Endocrinology volume 13 (June 2022). doi:10.3389/fendo.2022.866679
2017
Saba L, Masala M, Capponi V, Marceddu G, Massidda M, Rosatelli MC.
Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population
European journal of human genetics : EJHG, 25(5), 600–607. doi:10.1038/ejhg.2017.26
Abstracts
2022
Atzeni R, Massidda M, Pieroni E, Pisu M, Fotia G.
A novel affordable and reliable framework for accurate detection and comprehensive analysis of somatic mutations in cancer.
18th Annual Meeting of the Bioinformatics Italian Society, 27-29 June 2022, Verona.
Accepted as Oral CommunicationR. Atzeni, M. Massidda, E. Pieroni, M. Pisu, G. Fotia.
Musta: end-to-end pipeline to detect, classify and interpret mutations in cancer.
European Society of Human Genetics ESHG, 11-14 June 2022.R. Murru, G. Piras, S. Uda, M. Monne, A. Galitzia, P. Uva, R. Cusano,R. Asproni, M. Murineddu, F. Culurgioni, A. Uras, A. Bianchi, S.A.M. Urru, G. Loghi, I. Tandurella, M. Massidda, C. Mereu, A.D. Palmas, E. Angelucci, G. La Nasa.
GENOMIC MUTATION PROFILE IN CHRONIC LYMPHOCYTIC LEUKEMIA (CLL): RESULTS FROM REGIONAL CLINICAL RESEARCH PROJECT BASED ON TARGETED NEXT GENERATION SEQUENCING.
Società Italiana Ematologia Sperimentale - SIES, 31 March - 2 April 2022, Rome. HAEMATOLOGICA 107, 33-33
Accepted as Oral Communication
2021
M. Massidda, G. Cuccuru , R. Atzeni, R. Pal, P. Uva, G. Fotia.
Bioinformatic NGS data analysis with solida-core.
European Society of Human Genetics ESHG, 28-31 August 2021. EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 495-496Rossano Atzeni, Matteo Massidda, Giorgio Fotia. Paolo Uva.
VariantAlert: a free service to notify updates in genetic variant annotations.
European Society of Human Genetics ESHG, 28-31 August 2021. EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 435-435
2020
- R. Murru, G. Piras, S. Uda, M. Monne, A. Galitzia, P. Uva, R. Cusano,R. Asproni, M. Murineddu, F. Culurgioni, A. Uras, S. Cardani, A. Bianchi, D. Pulisci , S.A.M. Urru, G. Loghi, I. Tandurella, M. Massidda, E. Lutzu, A.D. Palmas, E. Angelucci, G. La Nasa.
GENE MUTATIONS ANALYSIS AND NEW INSIGHTS IN CHRONIC LYMPHOCYTIC LEUKEMIA (CLL): PRELIMINARY RESULTS FROM A CLINICAL RESEARCH PROJECT BASED ON NEXT GENERATION SEQUENCING (NGS)
European Hematology Association, 2020. HAEMATOLOGICA 105, S100-S100
2019
Cuccuru G, Massidda M, Atzeni R, Uva P, Fotia G.
solida.core: download, deploy and use an open-source and ready-to-use set of bioinformatic analysis pipelines
The 18th European Conference on Computational Biology. ISMB/ECCB 2019.Cuccuru G, Massidda M, Atzeni R, Uva P, Fotia G.
solida.core: an open-source and ready-to-use set of bioinformatic analysis pipelines
16th Annual Meeting of the Bioinformatics Italian Society. BITS 2019.
2015 & before
M. Massidda, G. Marceddu, V. Capponi, M. Masala, L. Saba, M.C. Rosatelli.
Development of a pipeline for fetal genotype prediction in NIPD of ß-Thalassemia
XVIII Congresso Nazionale SIGU. SIGU 2015.A. Picciau, L. Saba, M. Masala, V. Capponi, M. Massidda, M.C. Rosatelli.
Application of Ion Torrent Technology for the development of a Non-Invasive Prenatal Diagnosis protocol for ß-Thalassemia on free Fetal DNA extracted from maternal plasma
XVI Congresso Nazionale SIGU. SIGU 2013.L. Saba, A. Picciau, M. Masala, V. Capponi, M. Massidda, M.C. Rosatelli.
Study of family haplotypes in Non-Invasive Prenatal Diagnosis through Long-Range PCR and Next-Generation Sequencing technologies
XVI Congresso Nazionale SIGU. SIGU 2013.M. Masala, A. Picciau, M. Massidda, L. Saba, C. Cossu, M.C. Rosatelli.
In-vitro model for isolation and analysis of fetal erythroblasts from maternal peripheral blood in Non-Invasive Prenatal Diagnosis
XV Congresso Nazionale SIGU. SIGU 2012.