Gonzàlez-Porta, Mar

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene

Gonzàlez-Porta, M., Frankish, A., Rung, J., Harrow, J., & Brazma, A. (2013) · Genome Biology

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 266

Impact of Alternative Splicing on the Human Proteome

Liu, Y., Gonzàlez-Porta, M., Santos, S., Brazma, A., Marioni, J. C., Aebersold, R., Venkitaraman, A. R., & Wickramasinghe, V. O. (2017) · Cell Reports

RNA Research and SplicingAdvanced Proteomics Techniques and Applications

Cited by 190

Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways

Ballester, B., Medina-Rivera, A., Schmidt, D., Gonzàlez-Porta, M., Carlucci, M., Chen, X., Chessman, K., Faure, A. J., Funnell, A. P., Goncalves, A., et al. (2014) · eLife

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 96

Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5′ splice site strength

Wickramasinghe, V. O., Gonzàlez-Porta, M., Perera, D., Bartolozzi, A. R., Sibley, C. R., Hallegger, M., Ule, J., Marioni, J. C., & Venkitaraman, A. R. (2015) · Genome Biology

RNA Research and SplicingRNA and protein synthesis mechanisms

Cited by 91