The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

por Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Jean Remi Trotta, Gemma Marfany, Rebeca Valero, Vianney Cortés-González, Roser Gonzàlez-Duarte
Publicado 2021

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Publicado 2021

Framework for quality assessment of whole genome cancer sequences

por Justin P. Whalley, Ivo Buchhalter, Esther Rheinbay, Keiran M. Raine, Miranda D. Stobbe, Kortine Kleinheinz, Johannes Werner, Sergi Beltran, Marta Gut, Daniel Hübschmann, Barbara Hutter, Dimitri Livitz, Marc D. Perry, Mara Rosenberg, Gordon Saksena, Jean-Rémi Trotta, Roland Eils, Daniela S. Gerhard, Peter J. Campbell, Matthias Schlesner, Ivo G. Gut
Publicado 2020