A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases

by Lorena Magraner-Pardo, Roman A. Laskowski, Tirso Pons, Janet M. Thornton
Published 2021-07-01

Comprehensive analysis of interacting proteins and genome-wide location studies of the Sas3-dependent NuA3 histone acetyltransferase complex

by Sara Vicente-Muñoz, Paco Romero, Lorena Magraner-Pardo, Celia P. Martinez-Jimenez, Vicente Tordera, Mercè Pamblanco
Published 2014-01-01

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

by Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-Pierri
Published 2019-12-01