Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

por Damiati, E., Borsani, G., Giacopuzzi, Edoardo
Publicado 2016

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

por Giacopuzzi, Edoardo, Popitsch, Niko, Taylor, Jenny C
Publicado 2022

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

por Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol
Publicado 2021

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa

por Giacopuzzi, Edoardo, Bresciani, Roberto, Schauer, Roland, Monti, Eugenio, Borsani, Giuseppe
Publicado 2012

The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia

por Maj, Carlo, Minelli, Alessandra, Giacopuzzi, Edoardo, Sacchetti, Emilio, Gennarelli, Massimo
Publicado 2016

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

por Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina
Publicado 2019

Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles

por Magri, Chiara, Giacopuzzi, Edoardo, Sacco, Chiara, Bocchio-Chiavetto, Luisella, Minelli, Alessandra, Gennarelli, Massimo
Publicado 2021

Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops

por Giacopuzzi, Edoardo, Barlati, Sergio, Preti, Augusto, Venerando, Bruno, Monti, Eugenio, Borsani, Giuseppe, Bresciani, Roberto
Publicado 2011

slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish

por Benini, Anna, Cignarella, Francesca, Calvarini, Laura, Mantovanelli, Silvia, Giacopuzzi, Edoardo, Zizioli, Daniela, Borsani, Giuseppe
Publicado 2015

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 variab...

por Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, Barbon, Alessandro
Publicado 2018

In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

por Bonardi, Dario, Ravasio, Viola, Borsani, Giuseppe, d'Azzo, Alessandra, Bresciani, Roberto, Monti, Eugenio, Giacopuzzi, Edoardo
Publicado 2014

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain

por Filippini, Alice, Bonini, Daniela, Giacopuzzi, Edoardo, La Via, Luca, Gangemi, Fabrizio, Colombi, Marina, Barbon, Alessandro
Publicado 2018

Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates

por Vita, Antonio, Minelli, Alessandra, Barlati, Stefano, Deste, Giacomo, Giacopuzzi, Edoardo, Valsecchi, Paolo, Turrina, Cesare, Gennarelli, Massimo
Publicado 2019

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

por Salvi, Alessandro, Giacopuzzi, Edoardo, Bardellini, Elena, Amadori, Francesca, Ferrari, Lia, De Petro, Giuseppina, Borsani, Giuseppe, Majorana, Alessandra
Publicado 2016

Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS)

por Magri, Chiara, Vitali, Erika, Cocco, Sara, Giacopuzzi, Edoardo, Rinaudo, Marco, Martini, Paolo, Barbon, Alessandro, Grassi, Claudio, Gennarelli, Massimo
Publicado 2021

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

por Giacopuzzi, Edoardo, Gennarelli, Massimo, Minelli, Alessandra, Gardella, Rita, Valsecchi, Paolo, Traversa, Michele, Bonvicini, Cristian, Vita, Antonio, Sacchetti, Emilio, Magri, Chiara
Publicado 2017

Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α

por Rossini, Elisa, Giacopuzzi, Edoardo, Gangemi, Fabrizio, Tamburello, Mariangela, Cosentini, Deborah, Abate, Andrea, Laganà, Marta, Berruti, Alfredo, Grisanti, Salvatore, Sigala, Sandra
Publicado 2021

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
Publicado 2022

CHARR efficiently estimates contamination from DNA sequencing data

por Lu, Wenhan, Gauthier, Laura D., Poterba, Timothy, Giacopuzzi, Edoardo, Goodrich, Julia K., Stevens, Christine R., King, Daniel, Daly, Mark J., Neale, Benjamin M., Karczewski, Konrad J.
Publicado 2023

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

por Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo
Publicado 2018