Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease M Tartaglia, S Martinelli, L Stella, G Bocchinfuso, E Flex, V Cordeddu, ... The American Journal of Human Genetics 78 (2), 279-290, 2006 | 424 | 2006 |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype C Carta, F Pantaleoni, G Bocchinfuso, L Stella, I Vasta, A Sarkozy, ... The American Journal of Human Genetics 79 (1), 129-135, 2006 | 265 | 2006 |
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ... Nature genetics 47 (6), 661-667, 2015 | 205 | 2015 |
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis E Flex, M Jaiswal, F Pantaleoni, S Martinelli, M Strullu, EK Fansa, A Caye, ... Human molecular genetics 23 (16), 4315-4327, 2014 | 155 | 2014 |
Scleroglucan: a versatile polysaccharide for modified drug delivery T Coviello, A Palleschi, M Grassi, P Matricardi, G Bocchinfuso, F Alhaique Molecules 10 (1), 6-33, 2005 | 141 | 2005 |
A theoretical model for the prediction of sequence-dependent nucleosome thermodynamic stability C Anselmi, G Bocchinfuso, P De Santis, M Savino, A Scipioni Biophysical journal 79 (2), 601-613, 2000 | 132 | 2000 |
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 123 | 2015 |
Different mechanisms of action of antimicrobial peptides: insights from fluorescence spectroscopy experiments and molecular dynamics simulations G Bocchinfuso, A Palleschi, B Orioni, G Grande, F Formaggio, C Toniolo, ... Journal of peptide science: an official publication of the European Peptide …, 2009 | 109 | 2009 |
Dual role of DNA intrinsic curvature and flexibility in determining nucleosome stability C Anselmi, G Bocchinfuso, P De Santis, M Savino, A Scipioni Journal of molecular biology 286 (5), 1293-1301, 1999 | 105 | 1999 |
Mutations in ZBTB20 cause Primrose syndrome V Cordeddu, B Redeker, E Stellacci, A Jongejan, A Fragale, TEJ Bradley, ... Nature genetics 46 (8), 815-817, 2014 | 101 | 2014 |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes S Martinelli, P Torreri, M Tinti, L Stella, G Bocchinfuso, E Flex, A Grottesi, ... Human molecular genetics 17 (13), 2018-2029, 2008 | 93 | 2008 |
Carnitine palmitoyl transferase-1A (CPT1A): a new tumor specific target in human breast cancer S Pucci, MJ Zonetti, T Fisco, C Polidoro, G Bocchinfuso, A Palleschi, ... Oncotarget 7 (15), 19982, 2016 | 92 | 2016 |
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome V Caputo, L Cianetti, M Niceta, C Carta, A Ciolfi, G Bocchinfuso, E Carrani, ... The American Journal of Human Genetics 90 (1), 161-169, 2012 | 92 | 2012 |
Determination of total and polycyclic aromatic hydrocarbons in aviation jet fuel M Bernabei, R Reda, R Galiero, G Bocchinfuso Journal of Chromatography A 985, 197–203, 2003 | 91 | 2003 |
Membrane perturbation by the antimicrobial peptide PMAP-23: a fluorescence and molecular dynamics study B Orioni, G Bocchinfuso, JY Kim, A Palleschi, G Grande, S Bobone, ... Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (7), 1523-1533, 2009 | 90 | 2009 |
Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ... The American Journal of Human Genetics 103 (4), 621-630, 2018 | 89 | 2018 |
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome V Cordeddu, JC Yin, C Gunnarsson, C Virtanen, S Drunat, F Lepri, ... Human mutation 36 (11), 1080-1087, 2015 | 87 | 2015 |
Molecular dynamics investigations of the polysaccharide scleroglucan: first study on the triple helix structure A Palleschi, G Bocchinfuso, T Coviello, F Alhaique Carbohydrate research 340 (13), 2154-2162, 2005 | 86 | 2005 |
A new scleroglucan/borax hydrogel: swelling and drug release studies T Coviello, M Grassi, A Palleschi, G Bocchinfuso, G Coluzzi, F Banishoeib, ... International Journal of Pharmaceutics 289 (1-2), 97-107, 2005 | 75 | 2005 |
Membrane thickness and the mechanism of action of the short peptaibol trichogin GA IV S Bobone, Y Gerelli, M De Zotti, G Bocchinfuso, A Farrotti, B Orioni, ... Biochimica et Biophysica Acta (BBA)-Biomembranes 1828 (3), 1013-1024, 2013 | 71 | 2013 |