High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

por Tricarico, Rossella, Crucianelli, Francesca, Alvau, Antonio, Orlando, Claudio, Sestini, Roberta, Tonelli, Francesco, Valanzano, Rosa, Genuardi, Maurizio
Publicado em 2011

The Use of COLD-PCR and High-Resolution Melting Analysis Improves the Limit of Detection of KRAS and BRAF Mutations in Colorectal Cancer

por Mancini, Irene, Santucci, Claudio, Sestini, Roberta, Simi, Lisa, Pratesi, Nicola, Cianchi, Fabio, Valanzano, Rosa, Pinzani, Pamela, Orlando, Claudio
Publicado em 2010

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

por Porfirio, Berardino, Sestini, Roberta, Gorelli, Greta, Cordovana, Miriam, Mannoni, Alessandro, Usher, Jeanette L., Introne, Wendy J., Gahl, William A., Vilboux, Thierry
Publicado no JIMD Rep (2016)

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

por Crucianelli, Francesca, Tricarico, Rossella, Turchetti, Daniela, Gorelli, Greta, Gensini, Francesca, Sestini, Roberta, Giunti, Laura, Pedroni, Monica, Ponz de Leon, Maurizio, Civitelli, Serenella, Genuardi, Maurizio
Publicado no Epigenetics (2014)

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 no PLoS One (2015)

Expanding the mutational spectrum of LZTR1 in schwannomatosis

por Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Papi, Laura
Publicado no Eur J Hum Genet (2015)

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

por Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Publicado no Acta Neuropathol (2020)

Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

por Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Publicado no Acta Neuropathol (2020)