| Identification of de novo mutations and rare variants in hypoplastic left heart syndrome M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, ... Clinical genetics 81 (6), 542-554, 2012 | 129 | 2012 |
| Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study F Girolami, M Iascone, B Tomberli, S Bardi, M Benelli, G Marseglia, ... Circulation: Cardiovascular Genetics 7 (6), 741-750, 2014 | 96 | 2014 |
| Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ... European Journal of Human Genetics 23 (3), 354-362, 2015 | 70 | 2015 |
| Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis A Lopez-Sainz, F Dominguez, LR Lopes, JP Ochoa, R Barriales-Villa, ... Journal of the American College of Cardiology 76 (2), 186-197, 2020 | 63 | 2020 |
| Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy L Pezzani, D Marchetti, A Cereda, LG Caffi, O Manara, D Mamoli, ... American Journal of Medical Genetics Part A 176 (12), 2867-2871, 2018 | 35 | 2018 |
| Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association A Vetro, M Iascone, I Limongelli, N Ameziane, S Gana, ED Mina, ... Human mutation 36 (5), 562-568, 2015 | 31 | 2015 |
| Role of preoperative cardiovascular magnetic resonance in planning ventricular septal myectomy in patients with obstructive hypertrophic cardiomyopathy P Spirito, I Binaco, D Poggio, A Zyrianov, M Grillo, L Pezzoli, J Rossi, ... The American Journal of Cardiology 123 (9), 1517-1526, 2019 | 29 | 2019 |
| Extensive Arterial Tortuosity and Severe Aortic Dilation in a Newborn With an EFEMP2 Mutation M Iascone, M Elena Sana, L Pezzoli, P Bianchi, D Marchetti, G Fasolini, ... Circulation 126 (23), 2764-2768, 2012 | 26 | 2012 |
| Intraoperative diagnosis of Anderson-Fabry disease in patients with obstructive hypertrophic cardiomyopathy undergoing surgical myectomy F Cecchi, M Iascone, N Maurizi, L Pezzoli, I Binaco, E Biagini, ML Fibbi, ... JAMA cardiology 2 (10), 1147-1151, 2017 | 23 | 2017 |
| Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like … F Saettini, A Cattoni, M D'Angio, P Corti, S Maitz, F Pagni, D Seminati, ... British Journal of Haematology 189 (4), 2020 | 18 | 2020 |
| A new mutational mechanism for hypertrophic cardiomyopathy L Pezzoli, ME Sana, P Ferrazzi, M Iascone Gene 507 (2), 165-169, 2012 | 18 | 2012 |
| Congenital muscular mitral-aortic discontinuity identified in patients with obstructive hypertrophic cardiomyopathy P Ferrazzi, P Spirito, I Binaco, A Zyrianov, D Poggio, G Vaccari, M Grillo, ... Journal of the American College of Cardiology 76 (19), 2238-2247, 2020 | 17 | 2020 |
| DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort F Di Lorenzo, E Marchionni, V Ferradini, A Latini, L Pezzoli, A Martino, ... International Journal of Molecular Sciences 24 (3), 2490, 2023 | 15 | 2023 |
| Not only diagnostic yield: Whole-exome sequencing in infantile cardiomyopathies impacts on clinical and family management L Pezzoli, L Pezzani, E Bonanomi, C Marrone, A Scatigno, A Cereda, ... Journal of Cardiovascular Development and Disease 9 (1), 2, 2021 | 13 | 2021 |
| Atypical, composite, or blended phenotypes: how different molecular mechanisms could associate in double-diagnosed patients E Rosina, L Pezzani, L Pezzoli, D Marchetti, M Bellini, A Pilotta, ... Genes 13 (7), 1275, 2022 | 12 | 2022 |
| A novel HRAS mutation independently contributes to left ventricular hypertrophy in a family with a known MYH7 mutation ME Sana, LA Quilliam, A Spitaleri, L Pezzoli, D Marchetti, C Lodrini, ... PLoS One 11 (12), e0168501, 2016 | 12 | 2016 |
| Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? L Pezzani, L Pezzoli, A Pansa, B Facchinetti, D Marchetti, A Scatigno, ... Molecular Genetics & Genomic Medicine 8 (3), e1064, 2020 | 9 | 2020 |
| Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome ME Sana, A Spitaleri, D Spiliotopoulos, L Pezzoli, L Preda, G Musco, ... American Journal of Medical Genetics Part A 164 (8), 2069-2073, 2014 | 9 | 2014 |
| Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome C Mio, F Fogolari, L Pezzoli, AV D’Elia, M Iascone, G Damante Molecular Genetics & Genomic Medicine 8 (7), e1278, 2020 | 8 | 2020 |
| A child with ichthyosis and liver failure G Indolfi, M Iascone, G Remaschi, MA Donati, C Nesti, A Rubegni, ... Journal of Pediatric Gastroenterology and Nutrition 65 (3), e70-e73, 2017 | 7 | 2017 |
