Estimation of alternative splicing variability in human populations
Gonzàlez-Porta, Mar, Calvo, Miquel, Sammeth, Michael, Guigó, Roderic
Published in Genome research (01.03.2012)
Published in Genome research (01.03.2012)
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Journal Article
Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene
Gonzàlez-Porta, Mar, Frankish, Adam, Rung, Johan, Harrow, Jennifer, Brazma, Alvis
Published in Genome biology (01.07.2013)
Published in Genome biology (01.07.2013)
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Journal Article
Impact of Alternative Splicing on the Human Proteome
Liu, Yansheng, Gonzàlez-Porta, Mar, Santos, Sergio, Brazma, Alvis, Marioni, John C., Aebersold, Ruedi, Venkitaraman, Ashok R., Wickramasinghe, Vihandha O.
Published in Cell reports (Cambridge) (01.08.2017)
Published in Cell reports (Cambridge) (01.08.2017)
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Journal Article
Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength
Wickramasinghe, Vihandha O, Gonzàlez-Porta, Mar, Perera, David, Bartolozzi, Arthur R, Sibley, Christopher R, Hallegger, Martina, Ule, Jernej, Marioni, John C, Venkitaraman, Ashok R
Published in Genome Biology (21.09.2015)
Published in Genome Biology (21.09.2015)
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Journal Article
Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways
Ballester, Benoit, Medina-Rivera, Alejandra, Schmidt, Dominic, Gonzàlez-Porta, Mar, Carlucci, Matthew, Chen, Xiaoting, Chessman, Kyle, Faure, Andre J, Funnell, Alister P W, Goncalves, Angela, Kutter, Claudia, Lukk, Margus, Menon, Suraj, McLaren, William M, Stefflova, Klara, Watt, Stephen, Weirauch, Matthew T, Crossley, Merlin, Marioni, John C, Odom, Duncan T, Flicek, Paul, Wilson, Michael D
Published in eLife (03.10.2014)
Published in eLife (03.10.2014)
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Journal Article
Blood transcriptome profile induced by an efficacious vaccine formulated with salivary antigens from cattle ticks
Maruyama, Sandra R., Carvalho, Benilton, González-Porta, Mar, Rung, Johan, Brazma, Alvis, Gustavo Gardinassi, Luiz, Ferreira, Beatriz R., Banin, Tamy M., Veríssimo, Cecília J., Katiki, Luciana M., de Miranda-Santos, Isabel K. F.
Published in npj vaccines (18.12.2019)
Published in npj vaccines (18.12.2019)
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Journal Article
Expression Atlas update--a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments
Petryszak, Robert, Burdett, Tony, Fiorelli, Benedetto, Fonseca, Nuno A, Gonzalez-Porta, Mar, Hastings, Emma, Huber, Wolfgang, Jupp, Simon, Keays, Maria, Kryvych, Nataliya, McMurry, Julie, Marioni, John C, Malone, James, Megy, Karine, Rustici, Gabriella, Tang, Amy Y, Taubert, Jan, Williams, Eleanor, Mannion, Oliver, Parkinson, Helen E, Brazma, Alvis
Published in Nucleic acids research (01.01.2014)
Published in Nucleic acids research (01.01.2014)
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Journal Article
The variation landscape of CYP2D6 in a multi-ethnic Asian population
Maulana, Yusuf, Toro Jimenez, Rodrigo, Twesigomwe, David, Sani, Levana, Irwanto, Astrid, Bertin, Nicolas, Gonzalez-Porta, Mar
Published in Scientific reports (20.07.2024)
Published in Scientific reports (20.07.2024)
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Journal Article
Variation in genomic landscape of clear cell renal cell carcinoma across Europe
Scelo, Ghislaine, Riazalhosseini, Yasser, Greger, Liliana, Letourneau, Louis, Gonzàlez-Porta, Mar, Wozniak, Magdalena B., Bourgey, Mathieu, Harnden, Patricia, Egevad, Lars, Jackson, Sharon M., Karimzadeh, Mehran, Arseneault, Madeleine, Lepage, Pierre, How-Kit, Alexandre, Daunay, Antoine, Renault, Victor, Blanché, Hélène, Tubacher, Emmanuel, Sehmoun, Jeremy, Viksna, Juris, Celms, Edgars, Opmanis, Martins, Zarins, Andris, Vasudev, Naveen S., Seywright, Morag, Abedi-Ardekani, Behnoush, Carreira, Christine, Selby, Peter J., Cartledge, Jon J., Byrnes, Graham, Zavadil, Jiri, Su, Jing, Holcatova, Ivana, Brisuda, Antonin, Zaridze, David, Moukeria, Anush, Foretova, Lenka, Navratilova, Marie, Mates, Dana, Jinga, Viorel, Artemov, Artem, Nedoluzhko, Artem, Mazur, Alexander, Rastorguev, Sergey, Boulygina, Eugenia, Heath, Simon, Gut, Marta, Bihoreau, Marie-Therese, Lechner, Doris, Foglio, Mario, Gut, Ivo G., Skryabin, Konstantin, Prokhortchouk, Egor, Cambon-Thomsen, Anne, Rung, Johan, Bourque, Guillaume, Brennan, Paul, Tost, Jörg, Banks, Rosamonde E., Brazma, Alvis, Lathrop, G. Mark
Published in Nature communications (29.10.2014)
Published in Nature communications (29.10.2014)
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Journal Article
Transcriptome and genome sequencing uncovers functional variation in humans
Lappalainen, Tuuli, Sammeth, Michael, Friedländer, Marc R., ‘t Hoen, Peter A. C., Monlong, Jean, Rivas, Manuel A., Gonzàlez-Porta, Mar, Kurbatova, Natalja, Griebel, Thasso, Ferreira, Pedro G., Barann, Matthias, Wieland, Thomas, Greger, Liliana, van Iterson, Maarten, Almlöf, Jonas, Ribeca, Paolo, Pulyakhina, Irina, Esser, Daniela, Giger, Thomas, Tikhonov, Andrew, Sultan, Marc, Bertier, Gabrielle, MacArthur, Daniel G., Lek, Monkol, Lizano, Esther, Buermans, Henk P. J., Padioleau, Ismael, Schwarzmayr, Thomas, Karlberg, Olof, Ongen, Halit, Kilpinen, Helena, Beltran, Sergi, Gut, Marta, Kahlem, Katja, Amstislavskiy, Vyacheslav, Stegle, Oliver, Pirinen, Matti, Montgomery, Stephen B., Donnelly, Peter, McCarthy, Mark I., Flicek, Paul, Strom, Tim M., Lehrach, Hans, Schreiber, Stefan, Sudbrak, Ralf, Carracedo, Ángel, Antonarakis, Stylianos E., Häsler, Robert, Syvänen, Ann-Christine, van Ommen, Gert-Jan, Brazma, Alvis, Meitinger, Thomas, Rosenstiel, Philip, Guigó, Roderic, Gut, Ivo G., Estivill, Xavier, Dermitzakis, Emmanouil T.
Published in Nature (London) (15.09.2013)
Published in Nature (London) (15.09.2013)
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Journal Article
Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip
Gan, Pamela, Hajis, Muhammad Irfan Bin, Yumna, Mazaya, Haruman, Jessline, Matoha, Husnul Khotimah, Wahyudi, Dian Tri, Silalahi, Santha, Oktariani, Dwi Rizky, Dela, Fitria, Annisa, Tazkia, Pitaloka, Tessalonika Damaris Ayu, Adhiwijaya, Priscilla Klaresza, Pauzi, Rizqi Yanuar, Hertanto, Robby, Kumaheri, Meutia Ayuputeri, Sani, Levana, Irwanto, Astrid, Pradipta, Ariel, Chomchopbun, Kamonlawan, Gonzalez-Porta, Mar
Published in Frontiers in pharmacology (11.03.2024)
Published in Frontiers in pharmacology (11.03.2024)
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Journal Article
Blood transcriptome profile induced by an efficacious vaccine formulated with salivary antigens from cattle ticks
Maruyama, Sandra R, Carvalho, Benilton, González-Porta, Mar, Rung, Johan, Brazma, Alvis, Gustavo Gardinassi, Luiz, Ferreira, Beatriz R, Banin, Tamy M, Veríssimo, Cecília J, Katiki, Luciana M, de Miranda-Santos, Isabel K F
Published in npj vaccines (18.12.2019)
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Published in npj vaccines (18.12.2019)
Journal Article
Best practices for benchmarking germline small-variant calls in human genomes
Krusche, Peter, Trigg, Len, Boutros, Paul C., Mason, Christopher E., De La Vega, Francisco M., Moore, Benjamin L., Gonzalez-Porta, Mar, Eberle, Michael A., Tezak, Zivana, Lababidi, Samir, Truty, Rebecca, Asimenos, George, Funke, Birgit, Fleharty, Mark, Chapman, Brad A., Salit, Marc, Zook, Justin M.
Published in Nature biotechnology (01.05.2019)
Published in Nature biotechnology (01.05.2019)
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Journal Article
Transcriptome and genome sequencing uncovers functional variation in humans
Lappalainen, Tuuli, Sammeth, Michael, Friedländer, Marc R., ‘t Hoen, Peter A. C., Monlong, Jean, Rivas, Manuel A., Gonzàlez-Porta, Mar, Kurbatova, Natalja, Griebel, Thasso, Ferreira, Pedro G., Barann, Matthias, Wieland, Thomas, Greger, Liliana, van Iterson, Maarten, Almlöf, Jonas, Ribeca, Paolo, Pulyakhina, Irina, Esser, Daniela, Giger, Thomas, Tikhonov, Andrew, Sultan, Marc, Bertier, Gabrielle, MacArthur, Daniel G., Lek, Monkol, Lizano, Esther, Buermans, Henk P. J., Padioleau, Ismael, Schwarzmayr, Thomas, Karlberg, Olof, Ongen, Halit, Kilpinen, Helena, Beltran, Sergi, Gut, Marta, Kahlem, Katja, Amstislavskiy, Vyacheslav, Stegle, Oliver, Pirinen, Matti, Montgomery, Stephen B., Donnelly, Peter, McCarthy, Mark I., Flicek, Paul, Strom, Tim M., Lehrach, Hans, Schreiber, Stefan, Sudbrak, Ralf, Carracedo, Ángel, Antonarakis, Stylianos E., Häsler, Robert, Syvänen, Ann-Christine, van Ommen, Gert-Jan, Brazma, Alvis, Meitinger, Thomas, Rosenstiel, Philip, Guigó, Roderic, Gut, Ivo G., Estivill, Xavier, Dermitzakis, Emmanouil T.
Published in Nature (London) (26.09.2013)
Published in Nature (London) (26.09.2013)
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Journal Article
The RNA-binding protein HuR is essential for the B cell antibody response
Diaz-Muñoz, Manuel D, Bell, Sarah E, Fairfax, Kirsten, Monzon-Casanova, Elisa, Cunningham, Adam F, Gonzalez-Porta, Mar, Andrews, Simon R, Bunik, Victoria I, Zarnack, Kathi, Curk, Tomaž, Heggermont, Ward A, Heymans, Stephane, Gibson, Gary E, Kontoyiannis, Dimitris L, Ule, Jernej, Turner, Martin
Published in Nature immunology (01.04.2015)
Published in Nature immunology (01.04.2015)
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Journal Article
Effect of predicted protein-truncating genetic variants on the human transcriptome
Rivas, Manuel A., Pirinen, Matti, Conrad, Donald F., Lek, Monkol, Tsang, Emily K., Karczewski, Konrad J., Maller, Julian B., Kukurba, Kimberly R., DeLuca, David S., Fromer, Menachem, Ferreira, Pedro G., Smith, Kevin S., Zhang, Rui, Zhao, Fengmei, Banks, Eric, Poplin, Ryan, Ruderfer, Douglas M., Purcell, Shaun M., Tukiainen, Taru, Minikel, Eric V., Stenson, Peter D., Cooper, David N., Huang, Katharine H., Sullivan, Timothy J., Nedzel, Jared, Bustamante, Carlos D., Li, Jin Billy, Daly, Mark J., Guigo, Roderic, Donnelly, Peter, Ardlie, Kristin, Sammeth, Michael, Dermitzakis, Emmanouil T., McCarthy, Mark I., Montgomery, Stephen B., Lappalainen, Tuuli, MacArthur, Daniel G.
Published in Science (American Association for the Advancement of Science) (08.05.2015)
Published in Science (American Association for the Advancement of Science) (08.05.2015)
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Journal Article
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
't Hoen, Peter A C, Friedländer, Marc R, Almlöf, Jonas, Sammeth, Michael, Pulyakhina, Irina, Anvar, Seyed Yahya, Laros, Jeroen F J, Buermans, Henk P J, Karlberg, Olof, Brännvall, Mathias, den Dunnen, Johan T, van Ommen, Gert-Jan B, Gut, Ivo G, Guigó, Roderic, Estivill, Xavier, Syvänen, Ann-Christine, Dermitzakis, Emmanouil T, Lappalainen, Tuuli
Published in Nature biotechnology (01.11.2013)
Published in Nature biotechnology (01.11.2013)
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Journal Article
Analysis of clinically relevant variants from ancestrally diverse Asian genomes
Chan, Sock Hoai, Bylstra, Yasmin, Teo, Jing Xian, Kuan, Jyn Ling, Bertin, Nicolas, Gonzalez-Porta, Mar, Hebrard, Maxime, Tirado-Magallanes, Roberto, Tan, Joanna Hui Juan, Jeyakani, Justin, Li, Zhihui, Chai, Jin Fang, Chong, Yap Seng, Davila, Sonia, Goh, Liuh Ling, Lee, Eng Sing, Wong, Eleanor, Wong, Tien Yin, Prabhakar, Shyam, Liu, Jianjun, Cheng, Ching-Yu, Eisenhaber, Birgit, Karnani, Neerja, Leong, Khai Pang, Sim, Xueling, Yeo, Khung Keong, Chambers, John C., Tai, E-Shyong, Tan, Patrick, Jamuar, Saumya S., Ngeow, Joanne, Lim, Weng Khong
Published in Nature communications (05.11.2022)
Published in Nature communications (05.11.2022)
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Journal Article
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes
Tan, Joanna Hui Juan, Li, Zhihui, Porta, Mar Gonzalez, Rajaby, Ramesh, Lim, Weng Khong, Tan, Ye An, Jimenez, Rodrigo Toro, Teo, Renyi, Hebrard, Maxime, Ow, Jack Ling, Ang, Shimin, Jeyakani, Justin, Chong, Yap Seng, Lim, Tock Han, Goh, Liuh Ling, Tham, Yih Chung, Leong, Khai Pang, Chin, Calvin Woon Loong, Davila, Sonia, Karnani, Neerja, Cheng, Ching-Yu, Chambers, John, Tai, E. Shyong, Liu, Jianjun, Sim, Xueling, Sung, Wing Kin, Prabhakar, Shyam, Tan, Patrick, Bertin, Nicolas
Published in Nature communications (04.11.2024)
Published in Nature communications (04.11.2024)
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