Pubblicazioni

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

2019 - GENETICS IN MEDICINE

Unolt, M.; Kammoun, M.; Nowakowska, B.; Graham, G. E.; Crowley, T. B.; Hestand, M. S.; Demaerel, W.; Geremek, M.; Emanuel, B. S.; Zackai, E. H.; Vermeesch, J. R.; McDonald-McGinn, D.

Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy

2019 - CANCERS

Fumagalli, Caterina; Tomao, Federica; Betella, Ilaria; Rappa, Alessandra; Calvello, Mariarosaria; Bonanni, Bernardo; Bernard, Loris; Peccatori, Fedro; Colombo, Nicoletta; Viale, Giuseppe; Barberis, Massimo; Guerini-Rocco, Elena

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

2019 - FRONTIERS IN GENETICS

Graziola, F.; Garone, G.; Stregapede, F.; Bosco, L.; Vigevano, F.; Curatolo, P.; Bertini, E.; Travaglini, L.; Capuano, A.

A new HLA-C04 variant, HLA-C04:01:106, discovered in an Italian hematopoietic stem cell donor

2019 - HLA

Catalano, Manuela; Preziosi, Nicoletta; Iaquinta, Giovanni; Testi, Manuela; Grammatico, Paola

Effective treatment of a platinum-resistant cutaneous squamous cell carcinoma case by EGFR pathway inhibition

2018 - MOLECULAR AND CLINICAL ONCOLOGY

Capalbo, Carlo; Belardinilli, Francesca; Filetti, Marco; Parisi, Claudia; Petroni, Marialaura; Colicchia, Valeria; Tessitore, Alessandra; Santoni, Matteo; Coppa, Anna; Giannini, Giuseppe; Marchetti, Paolo

Small non-coding RNA profiling in human biofluids and surrogate tissues from healthy individuals: Description of the diverse and most represented species

2018 - ONCOTARGET

Ferrero, G.; Cordero, F.; Tarallo, S.; Arigoni, M.; Riccardo, F.; Gallo, G.; Ronco, G.; Allasia, M.; Kulkarni, N.; Matullo, G.; Vineis, P.; Calogero, R. A.; Pardini, B.; Naccarati, A.

Diversity of cervical microbiota in asymptomatic chlamydia trachomatis genital infection: a pilot study

2017 - FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY

Filardo, Simone; DI PIETRO, Marisa; Porpora, Maria Grazia; Recine, Nadia; Farcomeni, Alessio; Latino, Maria A; Sessa, Rosa

Next-generation sequencing: recent applications to the analysis of colorectal cancer

2017 - JOURNAL OF TRANSLATIONAL MEDICINE

Del Vecchio, Filippo; Mastroiaco, Valentina; Di Marco, Antinisca; Compagnoni, Chiara; Capece, Daria; Zazzeroni, Francesca; Capalbo, Carlo; Alesse, Edoardo; Tessitore, Alessandra

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort

2016 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Maria Beatrice; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

Mind the gap; seven reasons to close fragmented genome assemblies

2016 - FUNGAL GENETICS AND BIOLOGY

Thomma, Bart P. H. J.; Seidl, Michael F.; Shi-Kunne, Xiaoqian; Cook, David E.; Bolton, Melvin D.; van Kan, Jan A. L.; Faino, Luigi

Hematopoietic stem cell transplantation: Improving alloreactive Bw4 donor selection by genotyping codon 86 of KIR3DL1/S1

2016 - EUROPEAN JOURNAL OF IMMUNOLOGY

Alicata, C.; Pende, D.; Meazza, R.; Canevali, P.; Loiacono, F.; Bertaina, A.; Locatelli, F.; Nemat-Gorgani, N.; Guethlein, L. A.; Parham, P.; Moretta, L.; Moretta, A.; Bottino, C.; Norman, P. J.; Falco, M.

Heterogeneity of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer and potential effects on therapy in the CAPRI GOIM trial

2015 - ANNALS OF ONCOLOGY

Normanno, N.; Rachiglio, A. M.; Lambiase, M.; Martinelli, E.; Fenizia, F.; Esposito, C.; Roma, C.; Troiani, T.; Rizzi, D.; Tatangelo, F.; Botti, G.; Maiello, E.; Colucci, G.; Ciardiello, F.; Giuliani, F.; Simone, G.; Febbraro, A.; Tommaselli, E.; Cinieri, S.; Criscuolo, M.; Rinaldi, A.; Bordonaro, R.; Manusia, M.; Romito, S.; Bufo, P.; Carteni, G.; Biglietto, M.; Nappi, O.; Montesarchio, E.; Micheli, P.; Nasti, G.; Chicchinelli, N.; Iannaccone, A.; Russo, A.; Cabibi, D.; Barone, C.; Rindi, G.; Tonini, G.; Onetti Muda, A.; Perrone, G.; Latiano, T.; Graziano, P.; Pisconti, S.; Sebastio, A.