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Mar Gonzàlez-Porta
Mar Gonzàlez-Porta
Geverifieerd e-mailadres voor illumina.com
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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
20322013
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
3792014
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
3392015
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
3092019
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
2842013
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
2662013
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
1912014
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
1722017
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
1562015
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
1132014
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
942015
Estimation of alternative splicing variability in human populations
M Gonzalez-Porta, M Calvo, M Sammeth, R Guigo
Genome Research, 2011
722011
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
622012
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
172022
Identification, annotation and visualisation of extreme changes in splicing from RNA-seq experiments with SwitchSeq
M Gonzàlez-Porta, A Brazma
bioRxiv, 005967, 2014
132014
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
112019
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
42018
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
32019
RNA sequencing for the study of splicing
M Gonzàlez-Porta
12014
Development and validation of a pharmacogenomics reporting workflow based on the Illumina Global Screening Array chip
P Gan, MIB Hajis, J Haruman, MA Kumaheri, A Irwanto, A Pradipta, ...
Frontiers in Pharmacology 15, 1349203, 2024
2024
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Artikelen 1–20