| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2072 | 2013 |
| Expression Atlas update—a database of gene and transcript expression from microarray-and sequencing-based functional genomics experiments R Petryszak, T Burdett, B Fiorelli, NA Fonseca, M Gonzalez-Porta, ... Nucleic acids research 42 (D1), D926-D932, 2014 | 380 | 2014 |
| Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 351 | 2015 |
| Best practices for benchmarking germline small-variant calls in human genomes P Krusche, L Trigg, PC Boutros, CE Mason, FM De La Vega, BL Moore, ... Nature biotechnology 37 (5), 555-560, 2019 | 333 | 2019 |
| Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene M Gonzàlez-Porta, A Frankish, J Rung, J Harrow, A Brazma Genome biology 14, 1-11, 2013 | 296 | 2013 |
| Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories PAC 't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ... Nature biotechnology 31 (11), 1015-1022, 2013 | 272 | 2013 |
| Variation in genomic landscape of clear cell renal cell carcinoma across Europe G Scelo, Y Riazalhosseini, L Greger, L Letourneau, M Gonzàlez-Porta, ... Nature communications 5 (1), 5135, 2014 | 196 | 2014 |
| Impact of alternative splicing on the human proteome Y Liu, M Gonzàlez-Porta, S Santos, A Brazma, JC Marioni, R Aebersold, ... Cell reports 20 (5), 1229-1241, 2017 | 186 | 2017 |
| The RNA-binding protein HuR is essential for the B cell antibody response MD Diaz-Muñoz, SE Bell, K Fairfax, E Monzon-Casanova, ... Nature immunology 16 (4), 415-425, 2015 | 165 | 2015 |
| Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways B Ballester, A Medina-Rivera, D Schmidt, M Gonzàlez-Porta, M Carlucci, ... Elife 3, e02626, 2014 | 115 | 2014 |
| Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5′ splice site strength VO Wickramasinghe, M Gonzàlez-Porta, D Perera, AR Bartolozzi, ... Genome biology 16, 1-21, 2015 | 98 | 2015 |
| Estimation of alternative splicing variability in human populations M Gonzalez-Porta, M Calvo, M Sammeth, R Guigo Genome Research, 2011 | 73 | 2011 |
| Comparative analysis of human and mouse expression data illuminates tissue-specific evolutionary patterns of miRNAs J Roux, M Gonzalez-Porta, M Robinson-Rechavi Nucleic acids research 40 (13), 5890-5900, 2012 | 65 | 2012 |
| Analysis of clinically relevant variants from ancestrally diverse Asian genomes SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin, M Gonzalez-Porta, ... Nature Communications 13 (1), 6694, 2022 | 24 | 2022 |
| Blood transcriptome profile induced by an efficacious vaccine formulated with salivary antigens from cattle ticks SR Maruyama, B Carvalho, M González-Porta, J Rung, A Brazma, ... npj Vaccines 4 (1), 53, 2019 | 13 | 2019 |
| Identification, annotation and visualisation of extreme changes in splicing from RNA-seq experiments with SwitchSeq M Gonzàlez-Porta, A Brazma bioRxiv, 005967, 2014 | 13 | 2014 |
| Author Correction: Best practices for benchmarking germline small-variant calls in human genomes. P Krusche, L Trigg, PC Boutros, CE Mason, FM De La Vega, BL Moore, ... Nature Biotechnology 37 (5), 567-567, 2019 | 4 | 2019 |
| Aberration hubs in protein interaction networks highlight actionable targets in cancer M Karimzadeh, P Jandaghi, AI Papadakis, S Trainor, J Rung, ... Oncotarget 9 (38), 25166, 2018 | 4 | 2018 |
| RNA sequencing for the study of splicing M Gonzàlez-Porta | 1 | 2014 |
| The variation landscape of CYP2D6 in a multi-ethnic Asian population Y Maulana, R Toro Jimenez, D Twesigomwe, L Sani, A Irwanto, N Bertin, ... Scientific Reports 14 (1), 16725, 2024 | | 2024 |
Alvis BrazmaSenior Scientist, European Bioinformatics Institute, EMBL在 ebi.ac.uk 的电子邮件经过验证
