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A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
Nunziato M, Esposito MV, Starnone F, Diroma MA, Calabrese A, Del Monaco V, Buono P, Frasci G, Botti G, D'Aiuto M, Salvatore F, D'Argenio V. Nunziato M, et al. Among authors: diroma ma. Anal Chim Acta. 2019 Jan 10;1046:154-162. doi: 10.1016/j.aca.2018.09.032. Epub 2018 Sep 18. Anal Chim Acta. 2019. PMID: 30482293
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing.
Calabrese C, Simone D, Diroma MA, Santorsola M, Guttà C, Gasparre G, Picardi E, Pesole G, Attimonelli M. Calabrese C, et al. Among authors: diroma ma. Bioinformatics. 2014 Nov 1;30(21):3115-7. doi: 10.1093/bioinformatics/btu483. Epub 2014 Jul 14. Bioinformatics. 2014. PMID: 25028726 Free PMC article.
Bioinformatics Resources for RNA Editing.
Diroma MA, Ciaccia L, Pesole G, Picardi E. Diroma MA, et al. Methods Mol Biol. 2021;2181:177-191. doi: 10.1007/978-1-0716-0787-9_11. Methods Mol Biol. 2021. PMID: 32729081
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smei… See abstract for full author list ➔ Falk MJ, et al. Among authors: diroma ma. Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Mol Genet Metab. 2015. PMID: 25542617 Free PMC article. Review.
NumtS colonization in mammalian genomes.
Calabrese FM, Balacco DL, Preste R, Diroma MA, Forino R, Ventura M, Attimonelli M. Calabrese FM, et al. Among authors: diroma ma. Sci Rep. 2017 Nov 27;7(1):16357. doi: 10.1038/s41598-017-16750-2. Sci Rep. 2017. PMID: 29180746 Free PMC article.
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