| Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families P Noris, S Perrotta, M Seri, A Pecci, C Gnan, G Loffredo, N Pujol-Moix, ... Blood, The Journal of the American Society of Hematology 117 (24), 6673-6680, 2011 | 319 | 2011 |
| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... European Journal of Human Genetics 28 (11), 1602-1614, 2020 | 270 | 2020 |
| Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 T Pippucci, A Savoia, S Perrotta, N Pujol-Moix, P Noris, G Castegnaro, ... The American Journal of Human Genetics 88 (1), 115-120, 2011 | 237 | 2011 |
| ANKRD26-related thrombocytopenia and myeloid malignancies P Noris, R Favier, MC Alessi, AE Geddis, S Kunishima, PG Heller, ... Blood, The Journal of the American Society of Hematology 122 (11), 1987-1989, 2013 | 201 | 2013 |
| Bleeding risk of surgery and its prevention in patients with inherited platelet disorders S Orsini, P Noris, L Bury, PG Heller, C Santoro, RA Kadir, NC Butta, ... haematologica 102 (7), 1192, 2017 | 120 | 2017 |
| Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia F Melazzini, F Palombo, A Balduini, D De Rocco, C Marconi, P Noris, ... Haematologica 101 (11), 1333, 2016 | 114 | 2016 |
| Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia P Noris, N Schlegel, C Klersy, PG Heller, E Civaschi, N Pujol-Moix, ... Haematologica 99 (8), 1387, 2014 | 73 | 2014 |
| ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization R Bottega, C Marconi, M Faleschini, G Baj, C Cagioni, A Pecci, T Pippucci, ... Blood, The Journal of the American Society of Hematology 125 (5), 869-872, 2015 | 69 | 2015 |
| A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree C Marconi, P Brunamonti Binello, G Badiali, E Caci, R Cusano, ... European Journal of Human Genetics 21 (6), 613-619, 2013 | 65 | 2013 |
| FA2H‐related disorders: a novel c.270+3A>T splice‐site mutation leads to a complex neurodegenerative phenotype C Garone, T Pippucci, DM Cordelli, R Zuntini, G Castegnaro, C Marconi, ... Developmental Medicine & Child Neurology 53 (10), 958-961, 2011 | 51 | 2011 |
| Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia C Marconi, CA Di Buduo, K LeVine, S Barozzi, M Faleschini, V Bozzi, ... Blood, The Journal of the American Society of Hematology 133 (12), 1346-1357, 2019 | 45 | 2019 |
| 5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia C Marconi, I Canobbio, V Bozzi, T Pippucci, G Simonetti, F Melazzini, ... Journal of Hematology & Oncology 10, 1-4, 2017 | 44 | 2017 |
| SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia C Marconi, CA Di Buduo, S Barozzi, F Palombo, S Pardini, C Zaninetti, ... Thrombosis and haemostasis 116 (05), 1076-1079, 2016 | 39 | 2016 |
| GEN-COVID Multicenter Study. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... Eur J Hum Genet 28 (11), 1602-1614, 2020 | 23 | 2020 |
| A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene P Noris, C Marconi, D De Rocco, F Melazzini, T Pippucci, G Loffredo, ... British journal of haematology 181 (5), 698-701, 2018 | 22 | 2018 |
| ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia M Faleschini, F Melazzini, C Marconi, T Giangregorio, T Pippucci, ... British Journal of Haematology 183 (2), 276-288, 2018 | 19 | 2018 |
| Mutations of RUNX1 in families with inherited thrombocytopenia D De Rocco, F Melazzini, C Marconi, A Pecci, R Bottega, C Gnan, ... American journal of hematology 92 (6), 86-88, 2017 | 19 | 2017 |
| Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies T Pippucci, L Licchetta, S Baldassari, C Marconi, M De Luise, C Myers, ... Annals of Clinical and Translational Neurology 6 (3), 475-485, 2019 | 18 | 2019 |
| European Hematology Association–Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Analysis of 339 pregnancies in 181 women with 13 different forms … P Noris, N Schlegel, C Klersy, PG Heller, E Civaschi, N Pujol-Moix, ... Haematologica 99 (8), 1387-1394, 2014 | 16 | 2014 |
| Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy L Gozzelino, G Kochlamazashvili, S Baldassari, AI Mackintosh, ... Brain 145 (7), 2313-2331, 2022 | 15 | 2022 |
