| Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor … M Solmone, D Vincenti, MCF Prosperi, A Bruselles, G Ippolito, ... Journal of virology 83 (4), 1718-1726, 2009 | 182 | 2009 |
| Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populations G Rozera, I Abbate, A Bruselles, C Vlassi, G D'Offizi, P Narciso, G Chillemi, ... Retrovirology 6 (1), 1-13, 2009 | 128 | 2009 |
| Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I P Fiorani, A Bruselles, M Falconi, G Chillemi, A Desideri, P Benedetti Journal of Biological Chemistry 278 (44), 43268-43275, 2003 | 92 | 2003 |
| A specific mutational signature associated with DNA 8-oxoguanine persistence in MUTYH-defective colorectal cancer A Viel, A Bruselles, E Meccia, M Fornasarig, M Quaia, V Canzonieri, ... EBioMedicine 20, 39-49, 2017 | 88 | 2017 |
| 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 | 87 | 2015 |
| Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing MCF Prosperi, L Prosperi, A Bruselles, I Abbate, G Rozera, D Vincenti, ... BMC bioinformatics 12 (1), 1-13, 2011 | 83 | 2011 |
| p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ... European Journal of Human Genetics 23 (8), 1068-1071, 2015 | 77 | 2015 |
| 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 | 66 | 2020 |
| 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 | 56 | 2015 |
| Effect on DNA relaxation of the single Thr718Ala mutation in human topoisomerase I: a functional and molecular dynamics study G Chillemi, P Fiorani, S Castelli, A Bruselles, P Benedetti, A Desideri Nucleic acids research 33 (10), 3339-3350, 2005 | 53 | 2005 |
| Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infection I Abbate, C Vlassi, G Rozera, A Bruselles, B Bartolini, E Giombini, ... Aids 25 (5), 611-617, 2011 | 46 | 2011 |
| Analysis of co‐receptor usage of circulating viral and proviral HIV genome quasispecies by ultra‐deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment I Abbate, G Rozera, C Tommasi, A Bruselles, B Bartolini, G Chillemi, ... Clinical microbiology and infection 17 (5), 725-731, 2011 | 45 | 2011 |
| Use of massive parallel pyrosequencing for near full-length characterization of a unique HIV Type 1 BF recombinant associated with a fatal primary infection A Bruselles, G Rozera, B Bartolini, M Prosperi, F Del Nonno, P Narciso, ... AIDS research and human retroviruses 25 (9), 937-942, 2009 | 36 | 2009 |
| Cancer stem cell‐based models of colorectal cancer reveal molecular determinants of therapy resistance ML De Angelis, A Zeuner, E Policicchio, G Russo, A Bruselles, M Signore, ... Stem cells translational medicine 5 (4), 511-523, 2016 | 35 | 2016 |
| Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases L Grassi, R Alfonsi, F Francescangeli, M Signore, ML De Angelis, ... Cell death & disease 10 (3), 1-15, 2019 | 34 | 2019 |
| 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 | 33 | 2018 |
| Role of the linker domain and the 203–214 N-terminal residues in the human topoisomerase I DNA complex dynamics G Chillemi, M Redinbo, A Bruselles, A Desideri Biophysical journal 87 (6), 4087-4097, 2004 | 31 | 2004 |
| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, ... Clinical genetics 91 (1), 86-91, 2017 | 29 | 2017 |
| The open state of human topoisomerase I as probed by molecular dynamics simulation G Chillemi, A Bruselles, P Fiorani, S Bueno, A Desideri Nucleic acids research 35 (9), 3032-3038, 2007 | 25 | 2007 |
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples E Giorgio, A Ciolfi, E Biamino, V Caputo, E Di Gregorio, EF Belligni, ... American Journal of Medical Genetics Part A 170 (7), 1772-1779, 2016 | 22 | 2016 |
Maria Rosaria CapobianchiINMI SpallanzaniVerified email at inmi.it
