| Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study P Guglielmelli, F Biamonte, G Rotunno, V Artusi, L Artuso, I Bernardis, ... Blood, The Journal of the American Society of Hematology 123 (14), 2157-2160, 2014 | 156 | 2014 |
| Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms E Tenedini, I Bernardis, V Artusi, L Artuso, E Roncaglia, P Guglielmelli, ... Leukemia 28 (5), 1052-1059, 2014 | 84 | 2014 |
| Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio) L Artuso, A Romano, T Verri, A Domenichini, F Argenton, FM Santorelli, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1817 (7), 1002-1011, 2012 | 77 | 2012 |
| Unravelling the complexity of inherited retinal dystrophies molecular testing: Added value of targeted next‐generation sequencing I Bernardis, L Chiesi, E Tenedini, L Artuso, A Percesepe, V Artusi, ... BioMed research international 2016 (1), 6341870, 2016 | 45 | 2016 |
| Amplicon‐based next‐generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa E Tenedini, L Artuso, I Bernardis, V Artusi, A Percesepe, L De Rosa, ... British Journal of Dermatology 173 (3), 731-738, 2015 | 42 | 2015 |
| A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H L Bisceglia, S Zoccolella, A Torraco, MR Piemontese, R Dell'Aglio, ... European Journal of Human Genetics 18 (6), 636-641, 2010 | 42 | 2010 |
| iVar, an interpretation-oriented tool to manage the update and revision of variant annotation and classification S Castellano, F Cestari, G Faglioni, E Tenedini, M Marino, L Artuso, ... Genes 12 (3), 384, 2021 | 25 | 2021 |
| Hereditary pancreatic cancer: a retrospective single-center study of 5143 Italian families with history of BRCA-related malignancies A Toss, M Venturelli, E Molinaro, S Pipitone, E Barbieri, I Marchi, ... Cancers 11 (2), 193, 2019 | 20 | 2019 |
| Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease L Artuso, S Zoccolella, P Favia, A Amati, R Capozzo, G Logroscino, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14 (4), 261-266, 2013 | 19 | 2013 |
| Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome S Zoccolella, V Petruzzella, F Prascina, L Artuso, F Pacillo, R Dell’Aglio, ... Journal of neurology 257, 1999-2003, 2010 | 19 | 2010 |
| Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B BS Yilmaz, NO Mungan, E Di Leo, L Magnolo, L Artuso, I Bernardis, ... Clinica Chimica Acta 452, 185-190, 2016 | 18 | 2016 |
| Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants V Petruzzella, R Carrozzo, C Calabrese, R Dell'Aglio, R Trentadue, ... Human molecular genetics 21 (17), 3753-3764, 2012 | 17 | 2012 |
| Genomic alterations at the basis of treatment resistance in metastatic breast cancer: Clinical applications A Toss, F Piacentini, L Cortesi, L Artuso, I Bernardis, S Parenti, E Tenedini, ... Oncotarget 9 (60), 31606, 2018 | 15 | 2018 |
| Characterization of New ATM Deletion Associated with Hereditary Breast Cancer S Parenti, C Rabacchi, M Marino, E Tenedini, L Artuso, S Castellano, ... Genes 12 (2), 136, 2021 | 9 | 2021 |
| Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA S Zoccolella, L Artuso, R Capozzo, A Amati, F Guerra, I Simone, ... Eur J Neurol 19, e63-4, 2012 | 9 | 2012 |
| Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia R Negro, S Zoccolella, R Dell’Aglio, A Amati, L Artuso, L Bisceglia, ... Neuromuscular Disorders 19 (6), 423-426, 2009 | 9 | 2009 |
| Bilateral progressive visual loss in an epileptic, mentally retarded boy S Guerriero, M Vetrugno, L Ciracì, L Artuso, R Dell’Aglio, V Petruzzella Middle East African Journal of Ophthalmology 18 (1), 67-70, 2011 | 7 | 2011 |
| Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study E Corradini, I Bernardis, P Dongiovanni, E Buzzetti, A Caleffi, L Artuso, ... Journal of Hepatology 68, S58-S59, 2018 | 6 | 2018 |
| Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies. Cancers (Basel). 2019; 11 (2): 193 A Toss, M Venturelli, E Molinaro, S Pipitone, E Barbieri, I Marchi, ... E193, 2019 | 5 | 2019 |
| Automated capture-based NGS workflow: One thousand patients experience in a clinical routine framework E Tenedini, F Celestini, P Iapicca, M Marino, S Castellano, L Artuso, ... Diagnosis 9 (1), 115-122, 2022 | 4 | 2022 |
