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E. Giacopuzzi · SciRah

Researcher profile · Semantic Scholar

E. Giacopuzzi

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E. Giacopuzzi — researcher profile on SciRah

h-index: 19
Works: 58
Citations: 838

Most-cited papers

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
A. Pagnamenta, Carme Camps, E. Giacopuzzi, John M. Taylor +93 more
2023Genome Medicine66 citations Open access
Semantic Scholar
Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates
A. Vita, A. Minelli, S. Barlati, G. Deste +4 more
2019Frontiers in Pharmacology62 citations Open access
Semantic Scholar
New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa
E. Giacopuzzi, R. Bresciani, R. Schauer, E. Monti +1 more
2012PLoS ONE55 citations Open access
Semantic Scholar
Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency
E. Giacopuzzi, M. Laffranchi, Romina Berardelli, Viola Ravasio +4 more
2018Human Mutation36 citations Open access
Semantic Scholar
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
M. Ritelli, V. Cinquina, E. Giacopuzzi, M. Venturini +2 more
2019Genes32 citations Open access
Semantic Scholar
Next Generation Sequencing Analysis in Early Onset Dementia Patients
C. Bonvicini, C. Scassellati, L. Benussi, E. Di Maria +15 more
2018Journal of Alzheimer's Disease32 citations Open access
Semantic Scholar
Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells)
Simone Perucca, A. Di Palma, P. Piccaluga, C. Gemelli +17 more
2017PLoS ONE32 citations Open access
Semantic Scholar
Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease.
Daniela Zizioli, M. Guarienti, C. Tobia, Giuseppina Gariano +13 more
2014Biochimica et Biophysica Acta32 citations Open access
Semantic Scholar
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
H. Winter, P. Kaisaki, Joe Harvey, E. Giacopuzzi +6 more
2019Cancers29 citations Open access
Semantic Scholar
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, Daniela Bonini +9 more
2018Scientific Reports27 citations Open access
Semantic Scholar
Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types
F. Cisternino, S. Ometto, S. Chatterjee, E. Giacopuzzi +2 more
2023bioRxiv26 citations Open access
Semantic Scholar
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies
E. Damiati, G. Borsani, E. Giacopuzzi
2016Human Genetics26 citations Open access
Semantic Scholar
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS
Viola Ravasio, M. Ritelli, A. Legati, E. Giacopuzzi
2017bioRxiv25 citations Open access
Semantic Scholar
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis
Alessandro Salvi, E. Giacopuzzi, E. Bardellini, F. Amadori +4 more
2016International Journal of Molecular Medicine23 citations Open access
Semantic Scholar
The effect of childhood trauma on blood transcriptome expression in major depressive disorder.
A. Minelli, C. Magri, E. Giacopuzzi, M. Gennarelli
2018Journal of Psychiatric Research21 citations Open access
Semantic Scholar
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
M. Ritelli, S. Morlino, E. Giacopuzzi, Laura Bernardini +9 more
2018Clinical Genetics21 citations
Semantic Scholar
Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.
Flavia Orizio, E. Damiati, E. Giacopuzzi, Giuliana Benaglia +6 more
2015Glycobiology21 citations Open access
Semantic Scholar
SVRare: discovering disease-causing structural variants in the 100K Genomes Project
J. Yu, A. Szabó, A. Pagnamenta, A. Shalaby +9 more
2021medRxiv20 citations Open access
Semantic Scholar
The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia
C. Maj, A. Minelli, E. Giacopuzzi, E. Sacchetti +1 more
2016Current Neuropharmacology20 citations Open access
Semantic Scholar
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 +6 more
2017PLoS ONE17 citations Open access
Semantic Scholar
Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
M. Ritelli, S. Morlino, E. Giacopuzzi, Giulia Carini +5 more
2017American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Substrate-Immobilized HIV-1 Tat Drives VEGFR2/&agr;v&bgr;3–Integrin Complex Formation and Polarization in Endothelial Cells
C. Urbinati, C. Ravelli, E. Tanghetti, M. Belleri +4 more
2012Arteriosclerosis, Thrombosis and Vascular Biology16 citations Open access
Semantic Scholar
Clinical validation of a combinatorial PharmAcogeNomic approach in major Depressive disorder: an Observational prospective RAndomized, participant and rater-blinded, controlled trial (PANDORA trial)
A. Minelli, S. Barlati, E. Vitali, S. Bignotti +13 more
2021Trials14 citations Open access
Semantic Scholar
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables
E. Giacopuzzi, M. Gennarelli, C. Sacco, Alice Filippini +3 more
2018BMC Genomics13 citations Open access
Semantic Scholar
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.
Anna Benini, A. Bozzato, Silvia Mantovanelli, Laura Calvarini +6 more
2013International Journal of Developmental Biology13 citations Open access
Semantic Scholar
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
M. Stevenson, A. Pagnamenta, H. Mack, J. Savige +4 more
2022Journal of the Endocrine Society12 citations Open access
Semantic Scholar
Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α
E. Rossini, E. Giacopuzzi, F. Gangemi, M. Tamburello +6 more
2021Biomedicines12 citations Open access
Semantic Scholar
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain
Alice Filippini, Daniela Bonini, E. Giacopuzzi, L. La Via +3 more
2018Genes11 citations Open access
Semantic Scholar
Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model.
M. Guarienti, E. Giacopuzzi, A. Gianoncelli, S. Sigala +4 more
2015Pharmacological Research10 citations Open access
Semantic Scholar
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder
Vincenzo Dattilo, S. Ulivi, A. Minelli, Martina La Bianca +6 more
2022World Journal of Biological Psychiatry9 citations Open access
Semantic Scholar
Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish
Viola Ravasio, E. Damiati, Daniela Zizioli, Flavia Orizio +5 more
2017Glycobiology8 citations
Semantic Scholar
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.
M. Ritelli, A. Palit, E. Giacopuzzi, A. Inamadar +4 more
2017Journal of dermatological science (Amsterdam)8 citations Open access
Semantic Scholar
slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish
A. Benini, Francesca Cignarella, Laura Calvarini, Silvia Mantovanelli +3 more
2015PLoS ONE8 citations Open access
Semantic Scholar
In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization
D. Bonardi, Viola Ravasio, G. Borsani, A. d'Azzo +3 more
2014PLoS ONE8 citations Open access
Semantic Scholar
Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops
E. Giacopuzzi, S. Barlati, A. Preti, B. Venerando +3 more
2011BMC Biochemistry8 citations Open access
Semantic Scholar
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, R. Maroofian, M. Zaki, J. Wangen +187 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS)
C. Magri, E. Vitali, S. Cocco, E. Giacopuzzi +5 more
2021International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
CHARR efficiently estimates contamination from DNA sequencing data
Wen-Han Lu, Laura D. Gauthier, T. Poterba, E. Giacopuzzi +6 more
2023bioRxiv6 citations Open access
Semantic Scholar
CHARR efficiently estimates contamination from DNA sequencing data.
Wen-Han Lu, Laura D. Gauthier, T. Poterba, E. Giacopuzzi +6 more
2023American Journal of Human Genetics6 citations Open access
Semantic Scholar
Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles
C. Magri, E. Giacopuzzi, C. Sacco, L. Bocchio-Chiavetto +2 more
2021Scientific Reports6 citations Open access
Semantic Scholar
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Vassilis Ragoussis, A. Pagnamenta, R. Haines, E. Giacopuzzi +8 more
2021Journal of Medical Genetics5 citations Open access
Semantic Scholar
Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression
Muhammad Shoaib, E. Giacopuzzi, Oliver Pain, C. Fabbri +4 more
2020The Pharmacogenomics Journal4 citations Open access
Semantic Scholar
Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders
A. Legati, E. Giacopuzzi, Marco Spinazzi, Monkol Lek
2021Frontiers in Neurology3 citations Open access
Semantic Scholar
Characterization of three sialidases from Danio rerio.
M. Forcella, M. Manzoni, Giuliana Benaglia, M. Bonanomi +6 more
2021Biochimie2 citations Open access
Semantic Scholar
Author Correction: 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, Daniela Bonini +9 more
2020Scientific Reports1 citations Open access
Semantic Scholar
Genome-wide analysis of RNA-editing levels in human blood identified interactions with mRNA processing genes and suggested correlation with biological and drug-related variables
E. Giacopuzzi, M. Gennarelli, A. Barbon
20171 citations
Semantic Scholar
Study of the genetic architecture behind mood disorders by whole exome sequencing on a large Italian pedigree
E. Giacopuzzi, C. Magri, A. Minelli, P. Valsecchi +4 more
20141 citations
Semantic Scholar
OC-09Independent determinants of CAP in healthy individuals with dysmetabolism
C. Bianco, S. Pelusi, E. Giacopuzzi, L. Santoro +6 more
2021Digestive and Liver Disease0 citations
Semantic Scholar
GREEN-DB: Genomic Regulatory Elements ENcyclopedia
E. Giacopuzzi, N. Popitsch, Jenny C. Taylor
20200 citations
Semantic Scholar
SA43ANALYSIS OF GENETIC AND ENVIRONMENTAL CONTRIBUTION TO ALTERED GENE EXPRESSION PROFILES OBSERVED IN MAJOR DEPRESSIVE DISORDER
E. Giacopuzzi, C. Sacco, A. Minelli, M. Gennarelli +1 more
2019European Neuropsychopharmacology0 citations
Semantic Scholar

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