Edoardo Giacopuzzi

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Alistair T. Pagnamenta, Edoardo Giacopuzzi, John Taylor et al. · Genome Medicine · 2023 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Edoardo Giacopuzzi, Roberto Bresciani, Roland Schauer et al. · PLoS ONE · 2012 · 51 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

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

Edoardo Giacopuzzi, Mattia Laffranchi, Romina Berardelli et al. · Human Mutation · 2018 · 45 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

Simone Perucca, Andrea Di Palma, Pier Paolo Piccaluga et al. · PLoS ONE · 2017 · 42 citations · Full text

Life Sciences, Cell Biology, Hematology +17

Next Generation Sequencing Analysis in Early Onset Dementia Patients

Cristian Bonvicini, Catia Scassellati, Luisa Benussi et al. · Journal of Alzheimer s Disease · 2018 · 41 citations · Full text

Life Sciences, Genetics, Neurology +17