Phylogenomics of the oxidative phosphorylation in fungi reveals extensive gene duplication followed by functional divergence

por Marcet-Houben, Marina, Marceddu, Giuseppe, Gabaldón, Toni
Publicado 2009

A fast, reliable and easy method to detect within-species DNA contamination

por Dallavilla, Tiziano, Marceddu, Giuseppe, Casadei, Arianna, De Antoni, Luca, Bertelli, Matteo
Publicado 2020

appMAGI: A complete laboratory information management system for clinical diagnostics

por Marceddu, Giuseppe, Dallavilla, Tiziano, Xhuvani, Aleksander, Daja, Muharrem, De Antoni, Luca, Casadei, Arianna, Bertelli, Matteo
Publicado 2020

Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain

por Naureen, Zakira, Lorusso, Lorenzo, Manganotti, Paolo, Caruso, Paola, Mazzon, Giulia, Cecchin, Stefano, Marceddu, Giuseppe, Bertelli, Matteo
Publicado 2020

Bacteriophages in food supplements obtained from natural sources

por Kiani, Aysha Karim, Anpilogov, Kyrylo, Dautaj, Astrit, Marceddu, Giuseppe, Sonna, Willy Nelson, Percio, Marcella, Dundar, Munis, Beccari, Tommaso, Bertelli, Matteo
Publicado 2020

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

por Paolacci, Stefano, Mattassi, Raul Ettore, Marceddu, Giuseppe, Manara, Elena, Zulian, Alessandra, Guerri, Giulia, De Antoni, Luca, Arduino, Carlo, Cavalca, Daniela, Bertelli, Matteo
Publicado 2020

Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing

por Mareso, Chiara, Albion, Elena, Cozza, William, Tanzi, Benedetta, Cecchin, Stefano, Gisondi, Paolo, Michelini, Sandro, Bellinato, Francesco, Michelini, Serena, Michelini, Silvia, Bertelli, Matteo, Marceddu, Giuseppe
Publicado 2023

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

por Precone, Vincenza, Cannarella, Rossella, Paolacci, Stefano, Busetto, Gian Maria, Beccari, Tommaso, Stuppia, Liborio, Tonini, Gerolamo, Zulian, Alessandra, Marceddu, Giuseppe, Calogero, Aldo E., Bertelli, Matteo
Publicado 2021

Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder

por DONATO, KEVIN, CECCARINI, MARIA RACHELE, DHULI, KRISTJANA, BONETTI, GABRIELE, MEDORI, MARIA CHIARA, MARCEDDU, GIUSEPPE, PRECONE, VINCENZA, XHUFI, SUELA, BUSHATI, MARSIDA, BOZO, DHURATA, BECCARI, TOMMASO, BERTELLI, MATTEO
Publicado 2022

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series

por Cannarella, Rossella, Gusmano, Carmelo, Condorelli, Rosita A., Bernini, Andrea, Kaftalli, Jurgen, Maltese, Paolo Enrico, Paolacci, Stefano, Dautaj, Astrit, Marceddu, Giuseppe, Bertelli, Matteo, La Vignera, Sandro, Calogero, Aldo E.
Publicado 2023

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations

por Cristofoli, Francesca, Daja, Muharrem, Maltese, Paolo Enrico, Guerri, Giulia, Tanzi, Benedetta, Miotto, Roberta, Bonetti, Gabriele, Miertus, Jan, Chiurazzi, Pietro, Stuppia, Liborio, Gatta, Valentina, Cecchin, Stefano, Bertelli, Matteo, Marceddu, Giuseppe
Publicado 2023

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

por Cristofoli, Francesca, Sorrentino, Elisa, Guerri, Giulia, Miotto, Roberta, Romanelli, Roberta, Zulian, Alessandra, Cecchin, Stefano, Paolacci, Stefano, Miertus, Jan, Bertelli, Matteo, Maltese, Paolo Enrico, Chiurazzi, Pietro, Stuppia, Liborio, Castori, Marco, Marceddu, Giuseppe
Publicado 2021

Non-syndromic monogenic female infertility

por Guerri, Giulia, Maniscalchi, Tiziana, Barati, Shila, Gerli, Sandro, Di Renzo, Gian Carlo, Della Morte, Chiara, Marceddu, Giuseppe, Casadei, Arianna, Laganà, Antonio Simone, Sturla, Davide, Ghezzi, Fabio, Garzon, Simone, Unfer, Vittorio, Bertelli, Matteo
Publicado 2019

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy

por Falsini, Benedetto, Placidi, Giorgio, De Siena, Elisa, Chiurazzi, Pietro, Minnella, Angelo Maria, Savastano, Maria Cristina, Ziccardi, Lucia, Parisi, Vincenzo, Iarossi, Giancarlo, Percio, Marcella, Piteková, Barbora, Marceddu, Giuseppe, Maltese, Paolo Enrico, Bertelli, Matteo
Publicado 2022

Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes

por Ricci, Maurizio, Compagna, Rita, Amato, Bruno, Kenanoglu, Sercan, Veselenyiova, Dominika, Kurti, Danjela, Baglivo, Mirko, Basha, Syed Hussain, Serrani, Roberta, Miggiano, Giacinto Abele Donato, Aquilanti, Barbara, Matera, Giuseppina, Marceddu, Giuseppe, Velluti, Valeria, Gagliardi, Lucilla, Dundar, Munis, Krajcovic, Juraj, Bertelli, Matteo
Publicado 2020

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy

por Michelini, Sandro, Herbst, Karen L., Precone, Vincenza, Manara, Elena, Marceddu, Giuseppe, Dautaj, Astrit, Maltese, Paolo Enrico, Paolacci, Stefano, Ceccarini, Maria Rachele, Beccari, Tommaso, Sorrentino, Elisa, Aquilanti, Barbara, Velluti, Valeria, Matera, Giuseppina, Gagliardi, Lucilla, Miggiano, Giacinto Abele Donato, Bertelli, Matteo
Publicado 2022

Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity

por Bonetti, Gabriele, Dhuli, Kristjana, Ceccarini, Maria Rachele, Kaftalli, Jurgen, Samaja, Michele, Precone, Vincenza, Cecchin, Stefano, Maltese, Paolo Enrico, Guerri, Giulia, Marceddu, Giuseppe, Beccari, Tommaso, Aquilanti, Barbara, Velluti, Valeria, Matera, Giuseppina, Perrone, Marco, Iaconelli, Amerigo, Colombo, Francesca, Greco, Francesco, Raffaelli, Marco, Ergoren, Mahmut Cerkez, Bertelli, Matteo
Publicado 2022