| 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 | 222 | 2020 |
| 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 | 185 | 2009 |
| 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 | 166 | 2017 |
| 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 | 143 | 2015 |
| 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 | 132 | 2009 |
| 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 | 110 | 2015 |
| 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 | 99 | 2003 |
| 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), 201, 2019 | 92 | 2019 |
| 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 | 85 | 2011 |
| 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 | 79 | 2015 |
| 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 | 73 | 2018 |
| Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 57 | 2019 |
| 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 | 55 | 2016 |
| 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 | 55 | 2005 |
| Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum M Motta, L Pannone, F Pantaleoni, G Bocchinfuso, FC Radio, S Cecchetti, ... The American Journal of Human Genetics 107 (3), 499-513, 2020 | 52 | 2020 |
| 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 | 49 | 2011 |
| The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes L Travaglini, C Aiello, F Stregapede, A D’Amico, V Alesi, A Ciolfi, ... Neurogenetics 19, 111-121, 2018 | 45 | 2018 |
| 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 | 44 | 2011 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 41 | 2021 |
| Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome S Paolacci, Y Li, E Agolini, E Bellacchio, CE Arboleda-Bustos, D Carrero, ... Journal of medical genetics 55 (12), 837-846, 2018 | 39 | 2018 |
Maria Rosaria CapobianchiINMI SpallanzaniVerified email at inmi.it
