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2023

The landscape of expression and alternative splicing variation across human traits

Cell Genomics

R. García-Pérez, J. Miguel Ramirez, A. Ripoll-Cladellas, R. Chazarra-Gil, W. Oliveros, O. Soldatkina, M. Bosio, P. Joris Rognon, S. Capella-Gutierrez, M. Calvo, F. Reverter, R. Guigó, F. Aguet, P. G. Ferreira, K. G. Ardlie, and M. Melé

2021

FGFR Inhibition Overcomes Resistance to EGFR-targeted Therapy in Epithelial-like Cutaneous Carcinoma

Clinical Cancer Research

A. Bernat-Peguera, J. Navarro-Ventura, L. Lorenzo-Sanz, V. da Silva-Diz, M. Bosio, L. Palomero, R. M. Penin, D. Pérez Sidelnikova, J. Oriol Bermejo, M. Taberna, N. Vilariño, J. M. Piulats, R. Mesia, J. Maria Viñals, E. Gonzalez-Suarez, S. Capella-Gutierrez, A. Villanueva, F. Viñals, and P. Muñoz
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Scientific Data

F. Ehrhart, A. Jacobsen, M. Rigau, M. Bosio, R. Kaliyaperumal, J. F. J. Laros, E. L. Willighagen, A. Valencia, M. Roos, S. Capella-Gutierrez, L. M. G. Curfs, and C. T. Evelo

2020

Sex differences in oncogenic mutational processes

Nature Communications

C. H. Li, S. D. Prokopec, R. X. Sun, F. Yousif, N. Schmitz, P. C. Boutros, and

2019

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

Human Mutation

M. Bosio, O. Drechsel, R. Rahman, F. Muyas, R. Rabionet, D. Bezdan, L. Domenech Salgado, H‐G. Hor, J‐J. Schott, F. Munell, R. Colobran, A. Macaya, X. Estivill, and S. Ossowski

2018