Pubblicazioni

FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epidermal growth factor receptor variants in NSCLC

2023 - PATHOLOGY ONCOLOGY RESEARCH

Behnke, Anke; Cayre, Anne; De Maglio, Giovanna; Giannini, Giuseppe; Habran, Lionel; Tarsitano, Marina; Chetta, Massimiliano; Cappellen, David; Lespagnol, Alexandra; Le Naoures, Cecile; Massazza, Gabriella; Destro, Annarita; Bonzheim, Irina; Rau, Achim; Battmann, Achim; Kah, Bettina; Watkin, Emmanuel; Hummel, Michael

Can the mutational status of KRAS drive the treatment of colorectal liver metastases?

2021 - HPB

Muttillo, Edoardo M; Felli, Emanuele

Personalized and targeted mutational analysis of multiple second primary melanomas under kinase inhibitors

2021 - ITALIAN JOURNAL OF DERMATOLOGY AND VENEREOLOGY

Donati, Michele; Zelano, Giovanni; Coppola, Rosa; Cinelli, Eleonora; Verri, Martina; Persichetti, Paolo; Perrella, Eleonora; Devirgiliis, Valeria; Calvieri, Stefano; Crescenzi, Anna; Panasiti, Vincenzo

A novel IRF2BPL truncating variant is associated with endolysosomal storage

2020 - MOLECULAR BIOLOGY REPORTS

Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E. M.

DNMT3A mutations are over-represented in young adults with NPM1 mutated AML and prompt a distinct co-mutational pattern

2019 - LEUKEMIA

Cappelli, L. V.; Meggendorfer, M.; Dicker, F.; Jeromin, S.; Hutter, S.; Kern, W.; Haferlach, T.; Haferlach, C.; Hollein, A.

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

2017 - PLOS COMPUTATIONAL BIOLOGY

Castellana, Stefano; Fusilli, Caterina; Mazzoccoli, Gianluigi; Biagini, Tommaso; Capocefalo, Daniele; Carella, Massimo; Vescovi, Angelo Luigi; Mazza, Tommaso

Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells

2017 - CLINICAL CANCER RESEARCH

Paolillo, C; Mu, Z; Rossi, G; Schiewer, Mj; Nguyen, T; Austin, L; Capoluongo, E; Knudsen, K; Cristofanilli, M; Fortina, P.

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed

2017 - NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Prudente, S.; Ludovico, O.; Trischitta, V.

Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy

2017 - MELANOMA RESEARCH

Borroni, Riccardo G.; Manganoni, Ausilia M.; Grassi, Sara; Grasso, Maurizia; Diegoli, Marta; Giorgianni, Carmela; Favalli, Valentina; Pavoni, Laura; Cespa, Maddalena; Arbustini, Eloisa

Detection and characterization of circulating tumor associated cells in metastatic breast cancer

2016 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mu, Zhaomei; Benali Furet, Naoual; Uzan, Georges; Znaty, AnaÃ«lle; Ye, Zhong; Paolillo, Carmela; Wang, Chun; Austin, Laura; Rossi, Giovanna; Fortina, Paolo; Yang, Hushan; Cristofanilli, Massimo

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

2016 - JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Nuovo, S.; Passeri, M.; Di Benedetto, E.; Calanchini, M.; Meldolesi, I.; Di Giacomo, M. C.; Petruzzi, D.; Piemontese, M. R.; Zelante, L.; Sangiuolo, F.; Novelli, G.; Fabbri, A.; Brancati, F.

A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma identification of novel and recurrent VGLL2-related fusions in infantile cases

2016 - THE AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Alaggio, Rita; Zhang, Lei; Sung, Yun Shao; Huang, Shih Chiang; Chen, Chun Liang; Bisogno, Gianni; Zin, Angelica; Agaram, Narasimhan P.; Laquaglia, Michael P.; Wexler, Leonard H.; Antonescu, Cristina R.