| The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining … J Beygo, V Citro, A Sparago, A De Crescenzo, F Cerrato, M Heitmann, ... Human molecular genetics 22 (3), 544-557, 2013 | 97 | 2013 |
| Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour F Cerrato, A Sparago, G Verde, A De Crescenzo, V Citro, MV Cubellis, ... Human molecular genetics 17 (10), 1427-1435, 2008 | 94 | 2008 |
| Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms’ tumor A Riccio, A Sparago, G Verde, A De Crescenzo, V Citro, MV Cubellis, ... Endocrine Involvement in Developmental Syndromes 14, 1-9, 2009 | 54 | 2009 |
| A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype A De Crescenzo, V Citro, A Freschi, A Sparago, O Palumbo, MV Cubellis, ... Journal of human genetics 60 (6), 287-293, 2015 | 42 | 2015 |
| Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests G Andreotti, V Citro, A De Crescenzo, P Orlando, M Cammisa, A Correra, ... Orphanet journal of rare diseases 6, 1-10, 2011 | 39 | 2011 |
| The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A meta-analysis can help to differentiate missense mutations V Citro, M Cammisa, L Liguori, C Cimmaruta, J Lukas, MV Cubellis, ... International Journal of Molecular Sciences 17 (12), 2010, 2016 | 38 | 2016 |
| The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can … V Citro, C Cimmaruta, M Monticelli, G Riccio, B Hay Mele, MV Cubellis, ... International journal of molecular sciences 19 (8), 2218, 2018 | 36 | 2018 |
| Drug repositioning can accelerate discovery of pharmacological chaperones B Hay Mele, V Citro, G Andreotti, MV Cubellis Orphanet journal of rare diseases 10, 1-3, 2015 | 36 | 2015 |
| Identification of an allosteric binding site on human lysosomal alpha-galactosidase opens the way to new pharmacological chaperones for Fabry disease V Citro, J Peña-García, H den-Haan, H Pérez-Sánchez, R Del Prete, ... PLoS One 11 (10), e0165463, 2016 | 33 | 2016 |
| Heterodimerization of two pathological mutants enhances the activity of human phosphomannomutase2 G Andreotti, MC Monti, V Citro, MV Cubellis PLoS One 10 (10), e0139882, 2015 | 25 | 2015 |
| Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease S Seemann, M Ernst, C Cimmaruta, S Struckmann, C Cozma, D Koczan, ... Biochemical Journal 477 (2), 359-380, 2020 | 18 | 2020 |
| A thermodynamic assay to test pharmacological chaperones for Fabry disease G Andreotti, V Citro, A Correra, MV Cubellis Biochimica et Biophysica Acta (BBA)-General Subjects 1840 (3), 1214-1224, 2014 | 18 | 2014 |
| D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR G Eden, M Archinti, R Arnaudova, G Andreotti, A Motta, F Furlan, V Citro, ... Cellular and Molecular Life Sciences 75, 1889-1907, 2018 | 16 | 2018 |
| In silico docking of urokinase plasminogen activator and integrins B Degryse, J Fernandez-Recio, V Citro, F Blasi, MV Cubellis BMC bioinformatics 9, 1-9, 2008 | 15 | 2008 |
| Extracellular vesicles mediate the communication between multiple myeloma and bone marrow microenvironment in a NOTCH dependent way D Giannandrea, N Platonova, M Colombo, M Mazzola, V Citro, R Adami, ... Haematologica 107 (9), 2183, 2022 | 14 | 2022 |
| Restoring tissue homeostasis at metastatic sites: a focus on extracellular vesicles in bone metastasis D Giannandrea, V Citro, E Lesma, M Bignotto, N Platonova, ... Frontiers in Oncology 11, 644109, 2021 | 14 | 2021 |
| A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG V Citro, C Cimmaruta, L Liguori, G Viscido, MV Cubellis, G Andreotti PLoS One 12 (12), e0189629, 2017 | 14 | 2017 |
| Jagged ligands enhance the pro-angiogenic activity of multiple myeloma cells MT Palano, D Giannandrea, N Platonova, G Gaudenzi, M Falleni, D Tosi, ... Cancers 12 (9), 2600, 2020 | 10 | 2020 |
| Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase C Cimmaruta, V Citro, G Andreotti, L Liguori, MV Cubellis, B Hay Mele BMC bioinformatics 19, 39-46, 2018 | 8 | 2018 |
| E-learning for rare diseases: An example using Fabry disease C Cimmaruta, L Liguori, M Monticelli, G Andreotti, V Citro International Journal of Molecular Sciences 18 (10), 2049, 2017 | 7 | 2017 |
