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Italy

Activities

Employment (6)

Human Technopole: Milan, IT

2022-02-07 to present | Senior Bioinformatic Technician (Population and medical genomics)
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

Wellcome Trust Centre for Human Genetics: Oxford, Oxfordshire, GB

2019-06-03 to 2022-01-31 | Bioinformatician - Whole genome sequencing
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

IRCCS Centro S Giovanni di Dio Fatebenefratelli: Brescia, Lombardia, IT

2018-05-03 to 2019-05-31 | Researcher (Genetic laboratory)
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

University of Brescia: Brescia, Brescia, IT

2014-12-01 to 2018-03-31 | Post-doctoral fellow on "Use of genomic and bioinformatic platforms for the study of the molecular basis of mendelian and complex genetic diseases" (Molecular and Translational Medicine)
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

University of Brescia: Brescia, Lombardy, IT

2014-01-01 to 2014-11-30 | Post-doctoral fellow on "Development of new bioinformatic strategies for NGS data analysis" (Molecular and Translational Medicine)
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

University of Brescia: Brescia, Lombardy, IT

2010-01-01 to 2013-12-31 | Post doctoral fellow on "Personal Genomics" (Molecular and Translational Medicine)
Employment
Source: Self-asserted source
Edoardo Giacopuzzi

Education and qualifications (3)

University of Brescia: Brescia, Lombardy, IT

2007-11-01 to 2011-12-14 | Ph.D. Molecular Genetics applied to Medical Sciences (Molecular and Translational Medicine)
Education
Source: Self-asserted source
Edoardo Giacopuzzi

University of Brescia: Brescia, Lombardy, IT

2005-10-01 to 2007-07-09 | Master degree Medical Biotechnology (Biomedical Sciences and Biotechnology)
Education
Source: Self-asserted source
Edoardo Giacopuzzi

University of Brescia: Brescia, Lombardy, IT

2002-10-01 to 2005-06-30 | Bechelor degree Biotechnology (Biomedical Sciences and Biotechnology)
Education
Source: Self-asserted source
Edoardo Giacopuzzi

Works (36)

Unsupervised cardiac MRI phenotyping with 3D diffusion autoencoders reveals novel genetic insights

2024-11-05 | Preprint
Contributors: Sara Ometto; Soumick Chatterjee; Andrea Mario Vergani; Arianna Landini; Sodbo Sharapov; Edoardo Giacopuzzi; Alessia Visconti; Emanuele Bianchi; Federica Santonastaso; Emanuel M. Soda et al.
Source: check_circle
Crossref

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

Brain Communications
2024-09-02 | Journal article
Contributors: Laura M Watts; David J Bunyan; Edoardo Giacopuzzi; Susan Walker; Gabriella Gazdagh; N Simon Thomas; Volker Straub; Anne-Marie Childs; Joan Forsyth; Julie Vogt et al.
Source: check_circle
Crossref

Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types

Nature Communications
2024-07-13 | Journal article
Contributors: Francesco Cisternino; Sara Ometto; Soumick Chatterjee; Edoardo Giacopuzzi; Adam P. Levine; Craig A. Glastonbury
Source: check_circle
Crossref

Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder

The World Journal of Biological Psychiatry
2023-02-07 | Journal article
Contributors: Vincenzo Dattilo; Sheila Ulivi; Alessandra Minelli; Martina La Bianca; Edoardo Giacopuzzi; Marco Bortolomasi; Stefano Bignotti; Massimo Gennarelli; Paolo Gasparini; Maria Pina Concas
Source: check_circle
Crossref

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

Nucleic Acids Research
2022-03-21 | Journal article
Contributors: Edoardo Giacopuzzi; Niko Popitsch; Jenny C Taylor
Source: check_circle
Crossref

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

2021-10-18 | Preprint
Contributors: Jing Yu; Anita Szabo; Alistair T Pagnamenta; Ahmed Shalaby; Edoardo Giacopuzzi; Jenny Taylor; Deborah Shears; Nikolas Pontikos; Genevieve Wright; Michel Michaelides et al.
Source: check_circle
Crossref

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

Biomedicines
2021-06-16 | Journal article
Contributors: Elisa Rossini; Edoardo Giacopuzzi; Fabrizio Gangemi; Mariangela Tamburello; Deborah Cosentini; Andrea Abate; Marta Laganà; Alfredo Berruti; Salvatore Grisanti; Sandra Sigala
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

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

2020-09-19 | Other
Contributors: E Giacopuzzi; N Popitsch; JC Taylor
Source: check_circle
Crossref

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

Scientific Reports
2020-03-10 | Journal article
Contributors: Chiara Magri; Edoardo Giacopuzzi; Luca La Via; Daniela Bonini; Viola Ravasio; Mohammed E. A. Elhussiny; Flavia Orizio; Fabrizio Gangemi; Paolo Valsecchi; Roberto Bresciani et al.
Source: check_circle
Crossref

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Cancers
2019-11-28 | Journal article
Contributors: Helen Winter; Pamela J. Kaisaki; Joe Harvey; Edoardo Giacopuzzi; Matteo P. Ferla; Melissa M. Pentony; Samantha J.L. Knight; Ricky A. Sharma; Jenny C. Taylor; James S.O. McCullagh
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

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

Genes
2019-08-21 | Journal article
Contributors: Marco Ritelli; Valeria Cinquina; Edoardo Giacopuzzi; Marina Venturini; Nicola Chiarelli; Marina Colombi
Source: check_circle
Crossref

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Clinical Genetics
2018 | Journal article
EID:

2-s2.0-85027706832

Contributors: Ritelli, M.; Morlino, S.; Giacopuzzi, E.; Bernardini, L.; Torres, B.; Santoro, G.; Ravasio, V.; Chiarelli, N.; D'Angelantonio, D.; Novelli, A. et al.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

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

Scientific Reports
2018-10-19 | Journal article
Contributors: Chiara Magri; Edoardo Giacopuzzi; Luca La Via; Daniela Bonini; Viola Ravasio; Mohammed E. A. Elhussiny; Flavia Orizio; Fabrizio Gangemi; Paolo Valsecchi; Roberto Bresciani et al.
Source: check_circle
Crossref

The effect of childhood trauma on blood transcriptome expression in major depressive disorder

Journal of Psychiatric Research
2018-09 | Journal article
Contributors: Alessandra Minelli; Chiara Magri; Edoardo Giacopuzzi; Massimo Gennarelli
Source: check_circle
Crossref

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

Human Mutation
2018-09-28 | Journal article
Contributors: Edoardo Giacopuzzi; Mattia Laffranchi; Romina Berardelli; Viola Ravasio; Ilaria Ferrarotti; Bibek Gooptu; Giuseppe Borsani; Annamaria Fra
Source: check_circle
Crossref

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS

Bioinformatics
2018-09-01 | Journal article
Contributors: Viola Ravasio; Marco Ritelli; Andrea Legati; Edoardo Giacopuzzi; Bonnie Berger
Source: check_circle
Crossref

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

Genes
2018-02 | Journal article
Source: check_circle
Multidisciplinary Digital Publishing Institute
grade
Preferred source (of 2)‎

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

2018-01-25 | Other
Contributors: Edoardo Giacopuzzi; Massimo Gennarelli; Chiara Sacco; Alice Filippini; Jessica Mingardi; Chiara Magri; Alessandro Barbon
Source: check_circle
Crossref

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

Journal of Dermatological Science
2017 | Journal article
EID:

2-s2.0-85019025701

Contributors: Ritelli, M.; Palit, A.; Giacopuzzi, E.; Inamadar, A.C.; Dordoni, C.; Mujja, A.; Murgude, M.S.; Colombi, M.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA

American Journal of Medical Genetics, Part A
2017 | Journal article
EID:

2-s2.0-84991471672

Contributors: Ritelli, M.; Morlino, S.; Giacopuzzi, E.; Carini, G.; Cinquina, V.; Chiarelli, N.; Majore, S.; Colombi, M.; Castori, M.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

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

PLoS ONE
2017 | Journal article
EID:

2-s2.0-85026871894

Contributors: Giacopuzzi, E.; Gennarelli, M.; Minelli, A.; Gardella, R.; Valsecchi, P.; Traversa, M.; Bonvicini, C.; Vita, A.; Sacchetti, E.; Magri, C.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish

Glycobiology
2017 | Journal article
EID:

2-s2.0-85031045460

Contributors: Ravasio, V.; Damiati, E.; Zizioli, D.; Orizio, F.; Giacopuzzi, E.; Manzoni, M.; Bresciani, R.; Borsani, G.; Monti, E.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Mesenchymal stromal cells (MSCs) induce ex vivo proliferation and erythroid commitment of cord blood haematopoietic stem cells (CB-CD34+ cells)

PLoS ONE
2017 | Journal article
EID:

2-s2.0-85013667790

Contributors: Perucca, S.; Di Palma, A.; Piccaluga, P.P.; Gemelli, C.; Zoratti, E.; Bassi, G.; Giacopuzzi, E.; Lojacono, A.; Borsani, G.; Tagliafico, E. et al.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS

2017-06-14 | Other
Contributors: Viola Ravasio; Marco Ritelli; Andrea Legati; Edoardo Giacopuzzi
Source: check_circle
Crossref

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

International Journal of Molecular Medicine
2016 | Journal article
EID:

2-s2.0-84992731402

Contributors: Salvi, A.; Giacopuzzi, E.; Bardellini, E.; Amadori, F.; Ferrari, L.; De Petro, G.; Borsani, G.; Majorana, A.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

The role of metabotropic glutamate receptor genes in schizophrenia

Current Neuropharmacology
2016 | Journal article
EID:

2-s2.0-84975763964

Contributors: Maj, C.; Minelli, A.; Giacopuzzi, E.; Sacchetti, E.; Gennarelli, M.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

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

Human Genetics
2016-05-22 | Journal article
Contributors: E. Damiati; G. Borsani; Edoardo Giacopuzzi
Source: check_circle
Crossref

Slc7a6os gene plays a critical role in defined areas of the developing CNS in Zebrafish

PLoS ONE
2015 | Journal article
DOI:

10.1371/journal.pone.0119696

EID:

2-s2.0-84925810450

Contributors: Benini, A.; Cignarella, F.; Calvarini, L.; Mantovanelli, S.; Giacopuzzi, E.; Zizioli, D.; Borsani, G.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model

Pharmacological Research
2015-12-01 | Journal article
Contributors: Michela Guarienti; Edoardo Giacopuzzi; Alessandra Gianoncelli; Sandra Sigala; Pierfranco Spano; Sergio Pecorelli; Luca Pani; Maurizio Memo
Source: check_circle
Crossref

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

2015-09 | Journal article
Contributors: Orizio F; Damiati E; Giacopuzzi E; Benaglia G; Pianta S; Schauer R; Schwartz-Albiez R; Borsani G; Bresciani R; Monti E
Source: Self-asserted source
Edoardo Giacopuzzi via Europe PubMed Central

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization

PloS one
2014 | Journal article
DOI:

10.1371/journal.pone.0104229

EID:

2-s2.0-84929511478

Contributors: Bonardi, D.; Ravasio, V.; Borsani, G.; d'Azzo, A.; Bresciani, R.; Monti, E.; Giacopuzzi, E.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: New insights into the pathogenesis of Krabbe's disease

2014 | Journal article
DOI:

10.1016/j.bbadis.2014.01.008

EID:

2-s2.0-84893839340

Contributors: Zizioli, D.; Guarienti, M.; Tobia, C.; Gariano, G.; Borsani, G.; Bresciani, R.; Ronca, R.; Giacopuzzi, E.; Preti, A.; Gaudenzi, G. et al.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV

2013 | Journal article
DOI:

10.1387/ijdb.120033gb

EID:

2-s2.0-84875135127

Contributors: Benini, A.; Bozzato, A.; Mantovanelli, S.; Calvarini, L.; Giacopuzzi, E.; Bresciani, R.; Moleri, S.; Zizioli, D.; Beltrame, M.; Borsani, G.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

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

2012 | Journal article
DOI:

10.1371/journal.pone.0044193

EID:

2-s2.0-84865583094

Contributors: Giacopuzzi, E.; Bresciani, R.; Schauer, R.; Monti, E.; Borsani, G.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Substrate-Immobilized HIV-1 tat drives VEGFR2/α vβ 3-Integrin complex formation and polarization in endothelial cells

2012 | Journal article
DOI:

10.1161/ATVBAHA.111.242396

EID:

2-s2.0-84860179739

Contributors: Urbinati, C.; Ravelli, C.; Tanghetti, E.; Belleri, M.; Giacopuzzi, E.; Monti, E.; Presta, M.; Rusnati, M.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

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

2011 | Journal article
DOI:

10.1186/1471-2091-12-45

EID:

2-s2.0-80052032422

Contributors: Giacopuzzi, E.; Barlati, S.; Preti, A.; Venerando, B.; Monti, E.; Borsani, G.; Bresciani, R.
Source: Self-asserted source
Edoardo Giacopuzzi via Scopus - Elsevier

Peer review (2 reviews for 2 publications/grants)

Review activity for BMC psychiatry (1)
Review activity for Nature communications (1)