| Bioavailability of VEGF in tumor-shed vesicles depends on vesicle burst induced by acidic pH G Taraboletti, S D'Ascenzoy, I Giusti, D Marchetti, P Borsotti, D Millimaggi, ... Neoplasia 8 (2), 96-103, 2006 | 260 | 2006 |
| 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 | 131 | 2012 |
| Thrombospondin 1 as a scavenger for matrix-associated fibroblast growth factor 2 B Margosio, D Marchetti, V Vergani, R Giavazzi, M Rusnati, M Presta, ... Blood 102 (13), 4399-4406, 2003 | 112 | 2003 |
| Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing E Nicastro, A Di Giorgio, D Marchetti, C Barboni, A Cereda, M Iascone, ... The Journal of Pediatrics 211, 54-62. e4, 2019 | 62 | 2019 |
| Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry Circ Genom Precis Med . 13 (6), 2020 | 44 | 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 | 37 | 2018 |
| GAMES identifies and annotates mutations in next-generation sequencing projects ME Sana, M Iascone, D Marchetti, J Palatini, M Galasso, S Volinia Bioinformatics 27 (1), 9-13, 2011 | 35 | 2011 |
| 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 | 27 | 2012 |
| 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 | 18 | 2022 |
| 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 | 15 | 2021 |
| Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene G Bossi, G Giordano, GA Rispoli, G Maggiore, M Naturale, D Marchetti, ... Pediatric reports 9 (3), 7266, 2017 | 14 | 2017 |
| 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 | 14 | 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 | 11 | 2020 |
| PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature A Peron, M Iascone, E Salvatici, B Cavirani, D Marchetti, S Corno, ... American Journal of Medical Genetics Part A 182 (6), 1477-1482, 2020 | 10 | 2020 |
| Expanding the phenotype of MED 17 mutations: description of two new cases and review of the literature A Agostini, D Marchetti, C Izzi, I Cocco, L Pinelli, P Accorsi, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 10 | 2018 |
| Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study E Rosina, L Pezzani, E Apuril, L Pezzoli, D Marchetti, M Bellini, C Lucca, ... Molecular Genetics & Genomic Medicine 12 (1), e2316, 2024 | 6 | 2024 |
| Gene symbol: LAMP2. Disease: Danon disease. M Iascone, A Iacovoni, D Marchetti, P Ferrazzi Human Genetics 123 (5), 537-537, 2008 | 5 | 2008 |
| Gene symbol: MYH7. MR Iascone, D Marchetti, P Ferrazzi Human genetics 120 (6), 916-916, 2007 | 5 | 2007 |
| Novel human pathological mutations M Iascone, A Iacovoni, D Marchetti, P Ferrazzi Hum Genet 123 (5), 537-555, 2008 | 4 | 2008 |
| Double somatic mosaicism in Cornelia de Lange syndrome L Pezzani, L Pezzoli, E Rosina, A Scatigno, A Cereda, C Lucca, M Bellini, ... American Journal of Medical Genetics Part A 194 (5), e63512, 2024 | 3 | 2024 |
