| 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 | 112 | 2016 |
| New ribosome-inactivating proteins with polynucleotide:adenosine glycosidase and antiviral activities from Basella rubra L. and Bougainvillea spectabilis Willd. A Bolognesi, L Polito, F Olivieri, P Valbonesi, L Barbieri, MG Battelli, ... Planta 203, 422-429, 1997 | 104 | 1997 |
| 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 |
| Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas–a possible mechanism for altering the nm23-H1 activity A Forus, A D'angelo, J Henriksen, G Merla, GM Maelandsmo, VA Flørenes, ... Oncogene 20 (47), 6881-6890, 2001 | 66 | 2001 |
| 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 | 65 | 2011 |
| Ribosome‐Inactivating Proteins (RNA N‐glycosidases) from the Seeds of Saponaria ocymoides and Vaccaria pyramidata A Bolognesi, F Olivieri, MG Battelli, L Barbieri, AI Falasca, A Parente, ... European journal of biochemistry 228 (3), 935-940, 1995 | 41 | 1995 |
| 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 |
| Ethanol consumption, amino acid and glutathione blood levels in patients with and without chronic liver disease C Loguercio, F Del Vecchio Blanco, V De Girolamo, D Disalvo, G Nardi, ... Alcoholism: Clinical and Experimental Research 23 (11), 1780-1784, 1999 | 39 | 1999 |
| 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 phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis A Grandone, A Torella, C Santoro, T Giugliano, F Del Vecchio Blanco, ... Clinical Genetics 90 (5), 445-450, 2016 | 26 | 2016 |
| Complete amino-acid sequence of PD-S2, a new ribosome-inactivating protein from seeds of Phytolacca dioica L. FDV Blanco, A Bolognesi, A Malorni, MJW Sande, G Savino, A Parente Biochimica et Biophysica Acta (BBA)-Protein Structure and Molecular …, 1997 | 23 | 1997 |
| Isolation and primary structure determination of a metallothionein from Paracentrotus lividus (Echinodermata, Echinoidea) R Scudiero, C Capasso, F Del Vecchio-Blanco, G Savino, A Capasso, ... Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular …, 1995 | 23 | 1995 |
| One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography A Torella, A Trimarco, FDV Blanco, A Cuomo, S Aurino, G Piluso, ... The Journal of Molecular Diagnostics 12 (1), 65-73, 2010 | 22 | 2010 |
| A recombinant ribosome‐inactivating protein from the plant Phytolacca dioica L. produced from a synthetic gene 1 F Del Vecchio Blanco, V Cafaro, A Di Maro, R Scognamiglio, G Siniscalco, ... FEBS letters 437 (3), 241-245, 1998 | 20 | 1998 |
| Elicitin 172 from an isolate of Phytophthora nicotianae pathogenic to tomato R Capasso, G Cristinzio, A Evidente, C Visca, P Ferranti, FDV Blanco, ... Phytochemistry 50 (5), 703-709, 1999 | 19 | 1999 |
| Can dietary intake influence plasma levels of amino acids in liver cirrhosis? C Loguercio, FDV Blanco, A Nastasi, A Federico, GDV Blanco, ... Digestive and Liver Disease 32 (7), 611-616, 2000 | 13 | 2000 |
| BROX haploinsufficiency in familial nonmedullary thyroid cancer D Pasquali, A Torella, G Accardo, D Esposito, F Del Vecchio Blanco, ... Journal of Endocrinological Investigation 44, 165-171, 2021 | 12 | 2021 |
| UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism T Giugliano, C Santoro, A Torella, F Del Vecchio Blanco, P Bernardo, ... American Journal of Medical Genetics Part A 176 (3), 722-726, 2018 | 12 | 2018 |
| Enhancer chip: detecting human copy number variations in regulatory elements M Savarese, G Piluso, D Orteschi, G Di Fruscio, M Dionisi, FV Blanco, ... PLoS One 7 (12), e52264, 2012 | 12 | 2012 |
| Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients M Zacchia, FDV Blanco, A Torella, R Raucci, G Blasio, ME Onore, ... Clinical Kidney Journal 14 (6), 1545-1551, 2021 | 10 | 2021 |
