Detection of genomic structural variants from next-generation sequencing data L Tattini, R D’Aurizio, A Magi Frontiers in bioengineering and biotechnology 3, 92, 2015 | 333 | 2015 |
EXCAVATOR: detecting copy number variants from whole-exome sequencing data A Magi, L Tattini, I Cifola, R D’Aurizio, M Benelli, E Mangano, C Battaglia, ... Genome biology 14, 1-18, 2013 | 253 | 2013 |
Nanopore sequencing data analysis: state of the art, applications and challenges A Magi, R Semeraro, A Mingrino, B Giusti, R D’aurizio Briefings in bioinformatics 19 (6), 1256-1272, 2018 | 213 | 2018 |
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript M Benelli, C Pescucci, G Marseglia, M Severgnini, F Torricelli, A Magi Bioinformatics 28 (24), 3232-3239, 2012 | 213 | 2012 |
Bioinformatics for next generation sequencing data A Magi, M Benelli, A Gozzini, F Girolami, F Torricelli, ML Brandi Genes 1 (2), 294-307, 2010 | 136 | 2010 |
H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data A Magi, L Tattini, F Palombo, M Benelli, A Gialluisi, B Giusti, R Abbate, ... Bioinformatics 30 (20), 2852-2859, 2014 | 123 | 2014 |
Read count approach for DNA copy number variants detection A Magi, L Tattini, T Pippucci, F Torricelli, M Benelli Bioinformatics 28 (4), 470-478, 2012 | 108 | 2012 |
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2 R D'Aurizio, T Pippucci, L Tattini, B Giusti, M Pellegrini, A Magi Nucleic acids research 44 (20), e154-e154, 2016 | 103 | 2016 |
Genetic bases of bicuspid aortic valve: the contribution of traditional and high-throughput sequencing approaches on research and diagnosis B Giusti, E Sticchi, R De Cario, A Magi, S Nistri, G Pepe Frontiers in physiology 8, 612, 2017 | 96 | 2017 |
372 kb microdeletion in 18q12. 3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment G Marseglia, MR Scordo, C Pescucci, G Nannetti, E Biagini, V Scandurra, ... European journal of medical genetics 55 (3), 216-221, 2012 | 90 | 2012 |
Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm A Magi, M Benelli, S Yoon, F Roviello, F Torricelli Nucleic acids research 39 (10), e65-e65, 2011 | 90 | 2011 |
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization P Striano, A Coppola, R Paravidino, M Malacarne, S Gimelli, A Robbiano, ... Archives of neurology 69 (3), 322-330, 2012 | 86 | 2012 |
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm B Giusti, C Saracini, P Bolli, A Magi, I Sestini, E Sticchi, G Pratesi, R Pulli, ... Journal of Medical Genetics 45 (11), 721-730, 2008 | 85 | 2008 |
The antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosis B Giusti, S Serratì, F Margheri, L Papucci, L Rossi, F Poggi, A Magi, ... Arthritis & Rheumatism 52 (11), 3618-3628, 2005 | 78 | 2005 |
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells AJ Peired, G Antonelli, ML Angelotti, M Allinovi, F Guzzi, A Sisti, ... Science translational medicine 12 (536), eaaw6003, 2020 | 75 | 2020 |
Characterization of MinION nanopore data for resequencing analyses A Magi, B Giusti, L Tattini Briefings in bioinformatics 18 (6), 940-953, 2017 | 71 | 2017 |
Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants B Giusti, A Vestrini, C Poggi, A Magi, E Pasquini, R Abbate, C Dani Free Radical Research, 1-24, 2012 | 70 | 2012 |
A model of anti-angiogenesis: differential transcriptosome profiling of microvascular endothelial cells from diffuse systemic sclerosis patients B Giusti, G Fibbi, F Margheri, S Serratì, L Rossi, F Poggi, I Lapini, A Magi, ... Arthritis research & therapy 8, 1-17, 2006 | 65 | 2006 |
Epilepsy with auditory features: A heterogeneous clinico-molecular disease T Pippucci, L Licchetta, S Baldassari, F Palombo, V Menghi, R D'Aurizio, ... Neurology: Genetics 1 (1), e5, 2015 | 62 | 2015 |
Sanger validation of high-throughput sequencing in genetic diagnosis: still the best practice? R De Cario, A Kura, S Suraci, A Magi, A Volta, R Marcucci, AM Gori, ... Frontiers in genetics 11, 592588, 2020 | 55 | 2020 |