| New insights on the sialidase protein family revealed by a phylogenetic analysis in metazoa E Giacopuzzi, R Bresciani, R Schauer, E Monti, G Borsani Public Library of Science 7 (8), e44193, 2012 | 67 | 2012 |
| Treatment-resistant schizophrenia: genetic and neuroimaging correlates A Vita, A Minelli, S Barlati, G Deste, E Giacopuzzi, P Valsecchi, C Turrina, ... Frontiers in pharmacology 10, 402, 2019 | 55 | 2019 |
| Next generation sequencing analysis in early onset dementia patients C Bonvicini, C Scassellati, L Benussi, E Di Maria, C Maj, M Ciani, ... Journal of Alzheimer's Disease 67 (1), 243-256, 2019 | 42 | 2019 |
| Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency E Giacopuzzi, M Laffranchi, R Berardelli, V Ravasio, I Ferrarotti, B Gooptu, ... Human Mutation 39 (9), 1203-1213, 2018 | 40 | 2018 |
| Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells) S Perucca, A Di Palma, PP Piccaluga, C Gemelli, E Zoratti, G Bassi, ... PLoS One 12 (2), e0172430, 2017 | 39 | 2017 |
| Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease D Zizioli, M Guarienti, C Tobia, G Gariano, G Borsani, R Bresciani, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (4), 665-675, 2014 | 36 | 2014 |
| Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis A Salvi, E Giacopuzzi, E Bardellini, F Amadori, L Ferrari, G De Petro, ... International journal of molecular medicine 38 (5), 1338-1348, 2016 | 34 | 2016 |
| Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies E Damiati, G Borsani, E Giacopuzzi Human genetics 135, 499-511, 2016 | 32 | 2016 |
| Garfield-ngs: Genomic variants filtering by deep learning models in NGS V Ravasio, M Ritelli, A Legati, E Giacopuzzi Bioinformatics 34 (17), 3038-3040, 2018 | 28 | 2018 |
| Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes M Ritelli, V Cinquina, E Giacopuzzi, M Venturini, N Chiarelli, M Colombi Genes 10 (9), 631, 2019 | 27 | 2019 |
| A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme C Magri, E Giacopuzzi, L La Via, D Bonini, V Ravasio, MEA Elhussiny, ... Scientific reports 8 (1), 15470, 2018 | 23 | 2018 |
| Identification of circulating genomic and metabolic biomarkers in intrahepatic cholangiocarcinoma H Winter, PJ Kaisaki, J Harvey, E Giacopuzzi, MP Ferla, MM Pentony, ... Cancers 11 (12), 1895, 2019 | 21 | 2019 |
| A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations M Ritelli, S Morlino, E Giacopuzzi, L Bernardini, B Torres, G Santoro, ... Clinical Genetics 93 (1), 126-133, 2018 | 21 | 2018 |
| Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways E Giacopuzzi, M Gennarelli, A Minelli, R Gardella, P Valsecchi, ... PLoS One 12 (8), e0182778, 2017 | 20 | 2017 |
| The role of metabotropic glutamate receptor genes in schizophrenia C Maj, A Minelli, E Giacopuzzi, E Sacchetti, M Gennarelli Current neuropharmacology 14 (5), 540-550, 2016 | 20 | 2016 |
| Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme F Orizio, E Damiati, E Giacopuzzi, G Benaglia, S Pianta, R Schauer, ... Glycobiology 25 (9), 992-1006, 2015 | 19 | 2015 |
| Substrate-Immobilized HIV-1 Tat Drives VEGFR2/αvβ3–Integrin Complex Formation and Polarization in Endothelial Cells C Urbinati, C Ravelli, E Tanghetti, M Belleri, E Giacopuzzi, E Monti, ... Arteriosclerosis, thrombosis, and vascular biology 32 (5), e25-e34, 2012 | 19 | 2012 |
| The effect of childhood trauma on blood transcriptome expression in major depressive disorder A Minelli, C Magri, E Giacopuzzi, M Gennarelli Journal of psychiatric research 104, 50-54, 2018 | 18 | 2018 |
| Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA M Ritelli, S Morlino, E Giacopuzzi, G Carini, V Cinquina, N Chiarelli, ... American Journal of Medical Genetics Part A 173 (1), 169-176, 2017 | 15 | 2017 |
| Differential enzymatic activity of rat ADAR2 splicing variants is due to altered capability to interact with RNA in the deaminase domain A Filippini, D Bonini, E Giacopuzzi, L La Via, F Gangemi, M Colombi, ... Genes 9 (2), 79, 2018 | 14 | 2018 |
