Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome

by Massella, Laura, Gangemi, Concetta, Giannakakis, Kostas, Crisafi, Antonella, Faraggiana, Tullio, Fallerini, Chiara, Renieri, Alessandra, Muda, Andrea Onetti, Emma, Francesco
Published 2013

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

by Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
Published in Int J Mol Sci (2016)

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

by Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni
Published in Front Med (Lausanne) (2020)

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

by Monticelli, Maria, Hay Mele, Bruno, Benetti, Elisa, Fallerini, Chiara, Baldassarri, Margherita, Furini, Simone, Frullanti, Elisa, Mari, Francesca, Andreotti, Giuseppina, Cubellis, Maria Vittoria, Renieri, Alessandra
Published in Genes (Basel) (2021)

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

by Gelli, Elisa, Fallerini, Chiara, Valentino, Floriana, Giliberti, Annarita, Castiglione, Francesca, Laschi, Lucrezia, Palmieri, Maria, Fabbiani, Alessandra, Tita, Rossella, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Front Oncol (2020)

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

by Baldassarri, Margherita, Fallerini, Chiara, Cetta, Francesco, Ghisalberti, Marco, Bellan, Cristiana, Furini, Simone, Spiga, Ottavia, Crispino, Sergio, Gotti, Giuseppe, Ariani, Francesca, Paladini, Piero, Renieri, Alessandra, Frullanti, Elisa
Published in Cancer Res Treat (2018)

Advances in Alport syndrome diagnosis using next-generation sequencing

by Artuso, Rosangela, Fallerini, Chiara, Dosa, Laura, Scionti, Francesca, Clementi, Maurizio, Garosi, Guido, Massella, Laura, Epistolato, Maria Carmela, Mancini, Roberta, Mari, Francesca, Longo, Ilaria, Ariani, Francesca, Renieri, Alessandra, Bruttini, Mirella
Published 2012

Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Bu...

by Amato, Teresa, Abate, Francesco, Piccaluga, Pierpaolo, Iacono, Michele, Fallerini, Chiara, Renieri, Alessandra, De Falco, Giulia, Ambrosio, Maria Raffaella, Mourmouras, Vaselious, Ogwang, Martin, Calbi, Valeria, Rabadan, Roul, Hummel, Michael, Pileri, Stefano, Leoncini, Lorenzo, Bellan, Cristiana
Published in Am J Clin Pathol (2016)

Assessment of haptoglobin alleles in autism spectrum disorders

by Cupaioli, Francesca Anna, Mosca, Ettore, Magri, Chiara, Gennarelli, Massimo, Moscatelli, Marco, Raggi, Maria Elisabetta, Landini, Martina, Galluccio, Nadia, Villa, Laura, Bonfanti, Arianna, Renieri, Alessandra, Fallerini, Chiara, Minelli, Alessandra, Marabotti, Anna, Milanesi, Luciano, Fasano, Alessio, Mezzelani, Alessandra
Published in Sci Rep (2020)

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

by Daga, Sergio, Donati, Francesco, Capitani, Katia, Croci, Susanna, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Fallerini, Chiara, Niccheri, Francesca, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Frullanti, Elisa, Furini, Simone, Conticello, Silvestro Giovanni, Renieri, Alessandra, Pinto, Anna Maria
Published in Eur J Hum Genet (2019)

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

by McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
Published in Brain (2020)

Human CRY1 variants associate with attention deficit/hyperactivity disorder

by Onat, O. Emre, Kars, M. Ece, Gül, Şeref, Bilguvar, Kaya, Wu, Yiming, Özhan, Ayşe, Aydın, Cihan, Başak, A. Nazlı, Trusso, M. Allegra, Goracci, Arianna, Fallerini, Chiara, Renieri, Alessandra, Casanova, Jean-Laurent, Itan, Yuval, Atbaşoğlu, Cem E., Saka, Meram C., Kavaklı, İ. Halil, Özçelik, Tayfun
Published in J Clin Invest (2020)

Clinical and molecular characterization of COVID-19 hospitalized patients

by Benetti, Elisa, Giliberti, Annarita, Emiliozzi, Arianna, Valentino, Floriana, Bergantini, Laura, Fallerini, Chiara, Anedda, Federico, Amitrano, Sara, Conticini, Edoardo, Tita, Rossella, d’Alessandro, Miriana, Fava, Francesca, Marcantonio, Simona, Baldassarri, Margherita, Bruttini, Mirella, Mazzei, Maria Antonietta, Montagnani, Francesca, Mandalà, Marco, Bargagli, Elena, Furini, Simone, Renieri, Alessandra, Mari, Francesca
Published in PLoS One (2020)

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

by Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca
Published in Brain Sci (2021)

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

by Fallerini, Chiara, Daga, Sergio, Mantovani, Stefania, Benetti, Elisa, Picchiotti, Nicola, Francisci, Daniela, Paciosi, Francesco, Schiaroli, Elisabetta, Baldassarri, Margherita, Fava, Francesca, Palmieri, Maria, Ludovisi, Serena, Castelli, Francesco, Quiros-Roldan, Eugenia, Vaghi, Massimo, Rusconi, Stefano, Siano, Matteo, Bandini, Maria, Spiga, Ottavia, Capitani, Katia, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Mondelli, Mario U, Frullanti, Elisa
Published in eLife (2021)

Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants

by Baldassarri, Margherita, Fava, Francesca, Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Zguro, Kristina, Amitrano, Sara, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Beligni, Giada, Iuso, Nicola, Castelli, Francesco, Quiros-Roldan, Eugenia, Mondelli, Mario Umberto, Miceli, Rosalba, Frullanti, Elisa, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Gabbi, Chiara
Published in J Pers Med (2021)

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

by Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P., Birolo, Giovanni, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
Published in Eur J Hum Genet (2021)

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

by Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Published in Front Oncol (2021)

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

by Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca
Published in EBioMedicine (2021)