| MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing C Calabrese, D Simone, MA Diroma, M Santorsola, C Gutta, G Gasparre, ... Bioinformatics 30 (21), 3115-3117, 2014 | 207 | 2014 |
| Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 91 | 2015 |
| Elucidating the editome: bioinformatics approaches for RNA editing detection MA Diroma, L Ciaccia, G Pesole, E Picardi Briefings in bioinformatics 20 (2), 436-447, 2019 | 72 | 2019 |
| Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data MA Diroma, C Calabrese, D Simone, M Santorsola, FM Calabrese, ... BMC genomics 15, 1-15, 2014 | 70 | 2014 |
| HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor R Clima, R Preste, C Calabrese, MA Diroma, M Santorsola, G Scioscia, ... Nucleic acids research 45 (D1), D698-D706, 2017 | 65 | 2017 |
| NumtS colonization in mammalian genomes FM Calabrese, DL Balacco, R Preste, MA Diroma, R Forino, M Ventura, ... Scientific Reports 7 (1), 16357, 2017 | 57 | 2017 |
| MSeqDR: a centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease L Shen, MA Diroma, M Gonzalez, D Navarro‐Gomez, J Leipzig, MT Lott, ... Human mutation 37 (6), 540-548, 2016 | 45 | 2016 |
| A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest M Santorsola, C Calabrese, G Girolimetti, MA Diroma, G Gasparre, ... Human genetics 135, 121-136, 2016 | 38 | 2016 |
| HPC-REDItools: a novel HPC-aware tool for improved large scale RNA-editing analysis T Flati, S Gioiosa, N Spallanzani, I Tagliaferri, MA Diroma, G Pesole, ... BMC Bioinformatics 21 (Suppl 10), 353-364, 2020 | 35 | 2020 |
| 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 M Nunziato, MV Esposito, F Starnone, MA Diroma, A Calabrese, ... Analytica Chimica Acta 1046, 154-162, 2019 | 27 | 2019 |
| A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs MA Diroma, P Lubisco, M Attimonelli BMC bioinformatics 17, 73-82, 2016 | 14 | 2016 |
| More data on ancient human mitogenome variability in Italy: new mitochondrial genome sequences from three Upper Palaeolithic burials A Modi, S Vai, C Posth, C Vergata, V Zaro, MA Diroma, F Boschin, ... Annals of human biology 48 (3), 213-222, 2021 | 11 | 2021 |
| New insights into mitochondrial DNA reconstruction and variant detection in ancient samples MA Diroma, A Modi, M Lari, L Sineo, D Caramelli, S Vai Frontiers in genetics 12, 619950, 2021 | 9 | 2021 |
| Investigating human mitochondrial genomes in single cells MA Diroma, AS Varvara, M Attimonelli, G Pesole, E Picardi Genes 11 (5), 534, 2020 | 8 | 2020 |
| How a paleogenomic approach can provide details on bioarchaeological reconstruction: a case study from the globular amphorae culture S Vai, MA Diroma, C Cannariato, A Budnik, M Lari, D Caramelli, E Pilli Genes 12 (6), 910, 2021 | 4 | 2021 |
| The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics AM Mc Cartney, G Formenti, A Mouton, D De Panis, LS Marins, HG Leitão, ... bioRxiv, 2023.09. 25.559365, 2023 | 3 | 2023 |
| Bioinformatics resources for RNA editing MA Diroma, L Ciaccia, G Pesole, E Picardi RNA Editing: Methods and Protocols, 177-191, 2021 | 3 | 2021 |
| MToolBox: a package for the analysis of human NGS mitochondrial data C Calabrese, D Simone, MA Diroma, M Santorsola, FM Calabrese, ... 10th Annual Meeting of the Bioinformatics Italian Society (BITS), 2013 | 2 | 2013 |
| Elucidating the editome: bioinformatics approaches for RNA editing detection. G Pesole, MA Diroma, L Ciaccia, E Picardi Briefings in Bioinformatics 20 (2), 2019 | 1 | 2019 |
| MARGe: the human mitochondrial Major Allele Reference Genome M Santorsola, MA Diroma, FM Calabrese, D Simone, C Calabrese, ... 10th Annual Meeting of the Bioinformatics Italian Society (BITS), 2013 | 1 | 2013 |
