Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm

por Magi, Alberto, Benelli, Matteo, Yoon, Seungtai, Roviello, Franco, Torricelli, Francesca
Publicado 2011

Bioinformatics for Next Generation Sequencing Data

por Magi, Alberto, Benelli, Matteo, Gozzini, Alessia, Girolami, Francesca, Torricelli, Francesca, Brandi, Maria Luisa
Publicado 2010

Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients

por Sodi, Andrea, Menchini, Francesca, Manitto, Maria Pia, Passerini, Ilaria, Murro, Vittoria, Torricelli, Francesca, Menchini, Ugo
Publicado 2011

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome

por Sodi, Andrea, Mariottini, Alessandro, Passerini, Ilaria, Murro, Vittoria, Tachyla, Iryna, Bianchi, Benedetta, Menchini, Ugo, Torricelli, Francesca
Publicado 2014

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy

por Sodi, Andrea, Passerini, Ilaria, Murro, Vittoria, Caputo, Roberto, Bacci, Giacomo Maria, Bodoj, Mirela, Torricelli, Francesca, Menchini, Ugo
Publicado 2012

Draft Genome Sequence of Proteus mirabilis NO-051/03, Representative of a Multidrug-Resistant Clone Spreading in Europe and Expressing the CMY-16 AmpC-Type β-Lactamase

por D’Andrea, Marco Maria, Giani, Tommaso, Henrici De Angelis, Lucia, Ciacci, Nagaia, Gniadkowski, Marek, Miriagou, Vivi, Torricelli, Francesca, Rossolini, Gian Maria
Publicado 2016

Draft Genome Sequence of the First Hypermucoviscous Klebsiella quasipneumoniae subsp. quasipneumoniae Isolate from a Bloodstream Infection

por Arena, Fabio, Henrici De Angelis, Lucia, Pieralli, Filippo, Di Pilato, Vincenzo, Giani, Tommaso, Torricelli, Francesca, D’Andrea, Marco Maria, Rossolini, Gian Maria
Publicado 2015

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

por Eandi, Chiara M., Dallorto, Laura, Spinetta, Roberta, Micieli, Maria Pia, Vanzetti, Mario, Mariottini, Alessandro, Passerini, Ilaria, Torricelli, Francesca, Alovisi, Camilla, Marchese, Cristiana
Publicado 2017

Sphingosine 1-Phosphate Induces Differentiation of Mesoangioblasts towards Smooth Muscle. A Role for GATA6

por Donati, Chiara, Marseglia, Giuseppina, Magi, Alberto, Serratì, Simona, Cencetti, Francesca, Bernacchioni, Caterina, Nannetti, Genni, Benelli, Matteo, Brunelli, Silvia, Torricelli, Francesca, Cossu, Giulio, Bruni, Paola
Publicado 2011

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

por Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza, Torricelli, Francesca, Benelli, Matteo, Papi, Laura
Publicado 2015

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

por Coppini, Raffaele, Ho, Carolyn Y., Ashley, Euan, Day, Sharlene, Ferrantini, Cecilia, Girolami, Francesca, Tomberli, Benedetta, Bardi, Sara, Torricelli, Francesca, Cecchi, Franco, Mugelli, Alessandro, Poggesi, Corrado, Tardiff, Jil, Olivotto, Iacopo
Publicado 2014

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

por Mazzarotto, Francesco, Girolami, Francesca, Boschi, Beatrice, Barlocco, Fausto, Tomberli, Alessia, Baldini, Katia, Coppini, Raffaele, Tanini, Ilaria, Bardi, Sara, Contini, Elisa, Cecchi, Franco, Pelo, Elisabetta, Cook, Stuart A., Cerbai, Elisabetta, Poggesi, Corrado, Torricelli, Francesca, Walsh, Roddy, Olivotto, Iacopo
Publicado 2018