Pubblicazioni

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency

2018 - PLOS GENETICS

Pecce, Valeria; Sponziello, Marialuisa; Damante, Giuseppe; Rosignolo, Francesca; Durante, Cosimo; Lamartina, Livia; Grani, Giorgio; Russo, Diego; di Gioia, Cira Rosaria; Filetti, Sebastiano; Verrienti, Antonella

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

2017 - PLOS GENETICS

Mcdaniel, Lee D.; Conkrite, Karina L.; Chang, Xiao; Capasso, Mario; Vaksman, Zalman; Oldridge, Derek A.; Zachariou, Anna; Horn, Millicent; Diamond, Maura; Huo, Cuiping; Iolascon, Achille; Hakonarson, Hakon; Rahman, Nazneen; Devoto, Marcella; Diskin, Sharon J.

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

2016 - PLOS GENETICS

Chiabrando, Deborah; Castori, Marco; di Rocco, Maja; Ungelenk, Martin; GieÃelmann, Sebastian; Di Capua, Matteo; Madeo, Annalisa; Grammatico, Paola; Bartsch, Sophie; HÃ¼bner, Christian A.; Altruda, Fiorella; Silengo, Lorenzo; Tolosano, Emanuela; Kurth, Ingo