| U1 snRNP determines mRNA length and regulates isoform expression MG Berg, LN Singh, I Younis, Q Liu, AM Pinto, D Kaida, Z Zhang, S Cho, ... Cell 150 (1), 53-64, 2012 | 500 | 2012 |
| 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 | 281 | 2020 |
| U1 snRNP regulates cancer cell migration and invasion in vitro JM Oh, CC Venters, C Di, AM Pinto, L Wan, I Younis, Z Cai, C Arai, BR So, ... Nature communications 11 (1), 1, 2020 | 228 | 2020 |
| Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients C Brahe, T Vitali, FD Tiziano, C Angelozzi, AM Pinto, F Borgo, U Moscato, ... European Journal of Human Genetics 13 (2), 256-259, 2005 | 211 | 2005 |
| Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy Z Zhang, AM Pinto, L Wan, W Wang, MG Berg, I Oliva, LN Singh, ... Proceedings of the National Academy of Sciences 110 (48), 19348-19353, 2013 | 193 | 2013 |
| U1 snRNP telescripting regulates a size–function-stratified human genome JM Oh, C Di, CC Venters, J Guo, C Arai, BR So, AM Pinto, Z Zhang, L Wan, ... Nature structural & molecular biology 24 (11), 993-999, 2017 | 115 | 2017 |
| Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design FD Tiziano, R Lomastro, AM Pinto, S Messina, A D'Amico, S Fiori, ... Journal of medical genetics 47 (12), 856-858, 2010 | 91 | 2010 |
| Alport syndrome: impact of digenic inheritance in patients management C Fallerini, M Baldassarri, E Trevisson, V Morbidoni, A La Manna, ... Clinical genetics 92 (1), 34-44, 2017 | 85 | 2017 |
| SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR FD Tiziano, AM Pinto, S Fiori, R Lomastro, S Messina, C Bruno, A Pini, ... European journal of human genetics 18 (1), 52-58, 2010 | 58 | 2010 |
| High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints C Gervasini, P Castronovo, A Bentivegna, F Mottadelli, F Faravelli, ... Genomics 90 (5), 567-573, 2007 | 56 | 2007 |
| Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1 A Giannini, AM Pinto, G Rossetti, E Prandi, D Tiziano, C Brahe, ... Intensive care medicine 32, 1851-1855, 2006 | 56 | 2006 |
| iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome E Landucci, M Brindisi, L Bianciardi, LM Catania, S Daga, S Croci, ... Experimental cell research 368 (2), 225-235, 2018 | 48 | 2018 |
| New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells S Daga, F Donati, K Capitani, S Croci, R Tita, A Giliberti, F Valentino, ... European Journal of Human Genetics 28 (4), 480-490, 2020 | 35 | 2020 |
| Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of … E Gelli, M Colombo, AM Pinto, G De Vecchi, C Foglia, S Amitrano, ... Cancers 11 (3), 295, 2019 | 28 | 2019 |
| Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome S Daga, M Baldassarri, C Lo Rizzo, C Fallerini, V Imperatore, I Longo, ... Human mutation 39 (2), 302-314, 2018 | 23 | 2018 |
| Non-collagen genes role in digenic Alport syndrome S Daga, C Fallerini, S Furini, C Pecoraro, F Scolari, F Ariani, M Bruttini, ... BMC nephrology 20, 1-9, 2019 | 22 | 2019 |
| Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma V Imperatore, AM Pinto, E Gelli, E Trevisson, V Morbidoni, E Frullanti, ... European Journal of Human Genetics 26 (7), 1026-1037, 2018 | 21 | 2018 |
| Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation AM Pinto, L Bianciardi, MA Mencarelli, V Imperatore, C Di Marco, S Furini, ... Brain and Development 38 (6), 590-596, 2016 | 21 | 2016 |
| Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis A Catania, A Ardissone, D Verrigni, A Legati, A Reyes, E Lamantea, ... Journal of human genetics 63 (5), 563-568, 2018 | 19 | 2018 |
| High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot S Croci, ML Carriero, K Capitani, S Daga, F Donati, E Frullanti, ... European Journal of Human Genetics 28 (9), 1231-1242, 2020 | 18 | 2020 |
