| 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 | 275 | 2020 |
| Adult cardiac stem cells are multipotent and robustly myogenic: c-kit expression is necessary but not sufficient for their identification C Vicinanza, I Aquila, M Scalise, F Cristiano, F Marino, E Cianflone, ... Cell Death & Differentiation 24 (12), 2101-2116, 2017 | 150 | 2017 |
| The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ... Neurology 87 (1), 71-76, 2016 | 111 | 2016 |
| Interpreting genetic variants in titin in patients with muscle disorders M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ... JAMA neurology 75 (5), 557-565, 2018 | 88 | 2018 |
| Kitcre knock-in mice fail to fate-map cardiac stem cells C Vicinanza, I Aquila, E Cianflone, M Scalise, F Marino, T Mancuso, ... Nature 555 (7697), E1-E5, 2018 | 84 | 2018 |
| MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples M Savarese, G Di Fruscio, M Mutarelli, A Torella, F Magri, FM Santorelli, ... Acta neuropathologica communications 2, 1-13, 2014 | 84 | 2014 |
| Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ... PloS one 8 (5), e63536, 2013 | 82 | 2013 |
| Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism L Perillo, A Monsurrò, E Bonci, A Torella, M Mutarelli, V Nigro Journal of dental research 94 (4), 569-576, 2015 | 78 | 2015 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 74 | 2021 |
| The genetic landscape of dystrophin mutations in Italy: a nationwide study M Neri, R Rossi, C Trabanelli, A Mauro, R Selvatici, MS Falzarano, ... Frontiers in genetics 11, 131, 2020 | 71 | 2020 |
| Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders G Piluso, M Dionisi, F Del Vecchio Blanco, A Torella, S Aurino, ... Clinical chemistry 57 (11), 1584-1596, 2011 | 64 | 2011 |
| Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene A Taglia, R Petillo, P D'AMBROSIO, E Picillo, A Torella, C Orsini, M Ergoli, ... Acta Myologica 34 (1), 9, 2015 | 60 | 2015 |
| TBCE mutations cause early-onset progressive encephalopathy with distal spinal muscular atrophy A Sferra, G Baillat, T Rizza, S Barresi, E Flex, G Tasca, A D’amico, ... The American Journal of Human Genetics 99 (4), 974-983, 2016 | 56 | 2016 |
| Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies M La Verde, L De Falco, A Torella, G Savarese, P Savarese, R Ruggiero, ... BMC medical genomics 14, 1-11, 2021 | 45 | 2021 |
| Genotype–phenotype correlations in recessive titinopathies M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ... Genetics in Medicine 22 (12), 2029-2040, 2020 | 44 | 2020 |
| De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct … G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ... Genetics in Medicine 22 (11), 1838-1850, 2020 | 43 | 2020 |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ... European Journal of Human Genetics 27 (8), 1254-1259, 2019 | 40 | 2019 |
| Clinical and genetic findings in children with neurofibromatosis type 1, Legius syndrome, and other related neurocutaneous disorders T Giugliano, C Santoro, A Torella, F Del Vecchio Blanco, A Grandone, ... Genes 10 (8), 580, 2019 | 40 | 2019 |
| The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene A Torella, M Zanobio, R Zeuli, F del Vecchio Blanco, M Savarese, ... PLoS One 15 (8), e0237803, 2020 | 38 | 2020 |
| Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review E Agolini, ML Dentici, E Bellacchio, V Alesi, FC Radio, A Torella, ... Clinical Genetics 93 (3), 675-681, 2018 | 35 | 2018 |
