Pubblicazioni

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

2018 - PLOS GENETICS

Chen, Ying; Gilbert, Melissa A; Grochowski, Christopher M; Mceldrew, Deborah; Llewellyn, Jessica; Waisbourd-Zinman, Orith; Hakonarson, Hakon; Bailey-Wilson, Joan E; Russo, Pierre; Wells, Rebecca G; Loomes, Kathleen M; Spinner, Nancy B; Devoto, Marcella

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

The PHD finger protein Spp1 has distinct functions in the Set1 and the meiotic DSB formation complexes

2018 - PLOS GENETICS

Adam, C.; Guerois, R.; Citarella, Anna; Verardi, L.; Adolphe, F.; Beneut, C.; Sommermeyer, V.; Ramus, C.; Govin, J.; Coute, Y.; Borde, V.