Publications

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

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

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 Communication
R. 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

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), 495-496
Rossano 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

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

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.

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.