XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

por Magi, Alberto, Pippucci, Tommaso, Sidore, Carlo
Publicado 2017

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

por D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
Publicado 2016

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

por Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
Publicado 2020

Exploration of Tools for the Interpretation of Human Non-Coding Variants

por Tabarini, Nicole, Biagi, Elena, Uva, Paolo, Iovino, Emanuela, Pippucci, Tommaso, Seri, Marco, Cavalli, Andrea, Ceccherini, Isabella, Rusmini, Marta, Viti, Federica
Publicado 2022

Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only

por Iovino, Emanuela, Scapoli, Luca, Palmieri, Annalisa, Sgarzani, Rossella, Nouri, Nayereh, Pellati, Agnese, Carinci, Francesco, Seri, Marco, Pippucci, Tommaso, Martinelli, Marcella
Publicado 2023

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss

por Al-Kindi, Mohammed Nasser, Al-Khabouri, Mazin Jawad, Al-Lamki, Khalsa Ahmad, Palombo, Flavia, Pippucci, Tommaso, Romeo, Giovanni, Al-Wardy, Nadia Mohammed
Publicado 2020

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

por Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Publicado 2013

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

por Guerrini, Renzo, Cavallin, Mara, Pippucci, Tommaso, Rosati, Anna, Bisulli, Francesca, Dimartino, Paola, Barba, Carmen, Garbelli, Rita, Buccoliero, Anna Maria, Tassi, Laura, Conti, Valerio
Publicado 2020

Characterization and identification of hidden rare variants in the human genome

por Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
Publicado 2015

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

por Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
Publicado 2017

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

por Ciavarella, Michele, Miccoli, Sara, Prossomariti, Anna, Pippucci, Tommaso, Bonora, Elena, Buscherini, Francesco, Palombo, Flavia, Zuntini, Roberta, Balbi, Tiziana, Ceccarelli, Claudio, Bazzoli, Franco, Ricciardiello, Luigi, Turchetti, Daniela, Piazzi, Giulia
Publicado 2018

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

por Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
Publicado 2017

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
Publicado 2015

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

por Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L., Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso
Publicado 2022

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

por Zuntini, Roberta, Cortesi, Laura, Calistri, Daniele, Pippucci, Tommaso, Martelli, Pier Luigi, Casadio, Rita, Capizzi, Elisa, Santini, Donatella, Miccoli, Sara, Medici, Veronica, Danesi, Rita, Marchi, Isabella, Zampiga, Valentina, Fiorentino, Michelangelo, Ferrari, Simona, Turchetti, Daniela
Publicado 2017

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

por Magi, Alberto, Tattini, Lorenzo, Cifola, Ingrid, D’Aurizio, Romina, Benelli, Matteo, Mangano, Eleonora, Battaglia, Cristina, Bonora, Elena, Kurg, Ants, Seri, Marco, Magini, Pamela, Giusti, Betti, Romeo, Giovanni, Pippucci, Tommaso, Bellis, Gianluca De, Abbate, Rosanna, Gensini, Gian Franco
Publicado 2013

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

por Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Publicado 2015

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Marconi, Caterina, De Luise, Monica, Myers, Candace, Nardi, Elena, Provini, Federica, Cameli, Cinzia, Minardi, Raffaella, Bacchelli, Elena, Giordano, Lucio, Crichiutti, Giovanni, d'Orsi, Giuseppe, Seri, Marco, Gasparre, Giuseppe, Mefford, Heather C., Tinuper, Paolo, Bisulli, Francesca
Publicado 2019

Resources and tools for rare disease variant interpretation

por Licata, Luana, Via, Allegra, Turina, Paola, Babbi, Giulia, Benevenuta, Silvia, Carta, Claudio, Casadio, Rita, Cicconardi, Andrea, Facchiano, Angelo, Fariselli, Piero, Giordano, Deborah, Isidori, Federica, Marabotti, Anna, Martelli, Pier Luigi, Pascarella, Stefano, Pinelli, Michele, Pippucci, Tommaso, Russo, Roberta, Savojardo, Castrense, Scafuri, Bernardina, Valeriani, Lucrezia, Capriotti, Emidio
Publicado 2023

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

por Benetti, Elisa, Tita, Rossella, Spiga, Ottavia, Ciolfi, Andrea, Birolo, Giovanni, Bruselles, Alessandro, Doddato, Gabriella, Giliberti, Annarita, Marconi, Caterina, Musacchia, Francesco, Pippucci, Tommaso, Torella, Annalaura, Trezza, Alfonso, Valentino, Floriana, Baldassarri, Margherita, Brusco, Alfredo, Asselta, Rosanna, Bruttini, Mirella, Furini, Simone, Seri, Marco, Nigro, Vincenzo, Matullo, Giuseppe, Tartaglia, Marco, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2020