| Laboratory diagnosis of thalassemia V Brancaleoni, E Di Pierro, I Motta, MD Cappellini International Journal of laboratory hematology 38, 32-40, 2016 | 224 | 2016 |
| Advances in understanding the pathogenesis of congenital erythropoietic porphyria E Di Pierro, V Brancaleoni, F Granata British Journal of Haematology 173 (3), 365-379, 2016 | 52 | 2016 |
| Congenital erythropoietic porphyria linked to GATA 1‐R 216 W mutation: challenges for diagnosis E Di Pierro, R Russo, Z Karakas, V Brancaleoni, A Gambale, I Kurt, ... European journal of haematology 94 (6), 491-497, 2015 | 49 | 2015 |
| Porphyrias at a glance: diagnosis and treatment MD Cappellini, V Brancaleoni, G Graziadei, D Tavazzi, E Di Pierro Internal and emergency medicine 5, 73-80, 2010 | 38 | 2010 |
| X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria V Brancaleoni, M Balwani, F Granata, G Graziadei, P Missineo, ... Clinical genetics 89 (1), 20-26, 2016 | 32 | 2016 |
| A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria E Di Pierro, MD Cappellini, R Mazzucchelli, V Moriondo, D Mologni, ... Experimental hematology 33 (5), 584-591, 2005 | 27 | 2005 |
| Laboratory diagnosis of porphyria E Di Pierro, M De Canio, R Mercadante, M Savino, F Granata, D Tavazzi, ... Diagnostics 11 (8), 1343, 2021 | 26 | 2021 |
| Hyperhomocysteinemia in patients with acute porphyrias: a potentially dangerous metabolic crossroad? P Ventura, E Corradini, E Di Pierro, S Marchini, M Marcacci, C Cuoghi, ... European journal of internal medicine 79, 101-107, 2020 | 25 | 2020 |
| Nutrients and porphyria: an intriguing crosstalk E Di Pierro, F Granata International Journal of Molecular Sciences 21 (10), 3462, 2020 | 25 | 2020 |
| Molecular basis of β-thalassemia intermedia in Erbil province of Iraqi Kurdistan RP Shamoon, NAS Al-Allawi, MD Cappellini, E Di Pierro, V Brancaleoni, ... Hemoglobin 39 (3), 178-183, 2015 | 25 | 2015 |
| Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy FM di Montemuros, E Di Pierro, G Biolcati, E Rocchi, E Bissolotti, ... Blood Cells, Molecules, and Diseases 27 (6), 961-970, 2001 | 21 | 2001 |
| Hematologically important mutations: acute intermittent porphyria MD Cappellini, FM di Montemuros, E Di Pierro, G Fiorelli Blood Cells, Molecules, and Diseases 28 (1), 5-12, 2002 | 20 | 2002 |
| Co‐existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria E Di Pierro, V Brancaleoni, V Moriondo, V Besana, MD Cappellini Clinical genetics 71 (1), 84-88, 2007 | 18 | 2007 |
| Clinical, biochemical and geneticcharacteristics of variegate porphyria in Italy E Di Pierro, P Ventura, V Brancaleoni, V Moriondo, S Marchini, D Tavazzi, ... Cellular and Molecular Biology 55 (2), 79-88, 2009 | 17 | 2009 |
| Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. F Martinez di Montemuros, E Di Pierro, E Patti, D Tavazzi, MG Danielli, ... Cellular and Molecular Biology (Noisy-le-Grand, France) 48 (8), 867-876, 2002 | 17 | 2002 |
| Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations FM di Montemuros, E Di Pierro, S Fargion, G Biolcati, D Griso, A Macrì, ... Human Mutation 15 (5), 480-480, 2000 | 16 | 2000 |
| Seven novel genetic mutations within the 5′ UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria V Brancaleoni, F Granata, A Colancecco, D Tavazzi, MD Cappellini, ... Blood Cells, Molecules, and Diseases 49 (3-4), 147-151, 2012 | 15 | 2012 |
| Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria E Di Pierro, V Brancaleoni, V Besana, MD Cappellini Journal of human genetics 54 (8), 479-487, 2009 | 15 | 2009 |
| Recognized and emerging features of erythropoietic and X-linked protoporphyria E Di Pierro, F Granata, M De Canio, M Rossi, A Ricci, M Marcacci, ... Diagnostics 12 (1), 151, 2022 | 14 | 2022 |
| Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation … M Chiara, I Primon, L Tarantini, L Agnelli, V Brancaleoni, F Granata, ... Genetics in Medicine 22 (1), 35-43, 2020 | 14 | 2020 |
