RNA interference (RNAi) in the Nucleus: roles for small RNA in transcription, epigenetics and beyond

Por Castel, Stephane E, Martienssen, Robert A
Publicado em 2013

Dicer in action at replication-transcription collisions

Por Ren, Jie, Castel, Stephane E, Martienssen, Robert A
Publicado no Mol Cell Oncol (2015)

Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change

Por Mohammadi, Pejman, Castel, Stephane E., Brown, Andrew A., Lappalainen, Tuuli
Publicado no Genome Res (2017)

Tools and best practices for data processing in allelic expression analysis

Por Castel, Stephane E., Levy-Moonshine, Ami, Mohammadi, Pejman, Banks, Eric, Lappalainen, Tuuli
Publicado no Genome Biol (2015)

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Por Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli
Publicado no Nat Commun (2016)

A vast resource of allelic expression data spanning human tissues

Por Castel, Stephane E., Aguet, François, Mohammadi, Pejman, Ardlie, Kristin G., Lappalainen, Tuuli
Publicado no Genome Biol (2020)

Structural basis of the oxidative activation of the carboxysomal γ-carbonic anhydrase, CcmM

Por Peña, Kerry L., Castel, Stephane E., de Araujo, Charlotte, Espie, George S., Kimber, Matthew S.
Publicado em 2010

The Conserved RNA Binding Cyclophilin, Rct1, Regulates Small RNA Biogenesis and Splicing Independent of Heterochromatin Assembly

Por Chang, An-Yun, Castel, Stephane E., Ernst, Evan, Kim, Hyun Soo, Martienssen, Robert A.
Publicado no Cell Rep (2017)

Dicer promotes transcription termination at sites of replication stress to maintain genome stability

Por Castel, Stephane E., Ren, Jie, Bhattacharjee, Sonali, Chang, An-Yun, Sánchez, Mar, Valbuena, Alberto, Antequera, Francisco, Martienssen, Robert A
Publicado no Cell (2014)

Leveraging allelic imbalance to refine fine-mapping for eQTL studies

Por Zou, Jennifer, Hormozdiari, Farhad, Jew, Brandon, Castel, Stephane E., Lappalainen, Tuuli, Ernst, Jason, Sul, Jae Hoon, Eskin, Eleazar
Publicado no PLoS Genet (2019)

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Por Castel, Stephane E., Cervera, Alejandra, Mohammadi, Pejman, Aguet, François, Reverter, Ferran, Wolman, Aaron, Guigo, Roderic, Iossifov, Ivan, Vasileva, Ana, Lappalainen, Tuuli
Publicado no Nat Genet (2018)

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Por Mohammadi, Pejman, Castel, Stephane E., Cummings, Beryl B., Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A. Reghan, Wheeler, Heather E., Kyung Im, Hae, Bonnemann, Carsten G., MacArthur, Daniel G., Lappalainen, Tuuli
Publicado no Science (2019)

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

Por Kim-Hellmuth, Sarah, Bechheim, Matthias, Pütz, Benno, Mohammadi, Pejman, Nédélec, Yohann, Giangreco, Nicholas, Becker, Jessica, Kaiser, Vera, Fricker, Nadine, Beier, Esther, Boor, Peter, Castel, Stephane E., Nöthen, Markus M., Barreiro, Luis B., Pickrell, Joseph K., Müller-Myhsok, Bertram, Lappalainen, Tuuli, Schumacher, Johannes, Hornung, Veit
Publicado no Nat Commun (2017)

Landscape of X chromosome inactivation across human tissues

Por Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.
Publicado no Nature (2017)

Cell type specific genetic regulation of gene expression across human tissues

Por Kim-Hellmuth, Sarah, Aguet, François, Oliva, Meritxell, Muñoz-Aguirre, Manuel, Kasela, Silva, Wucher, Valentin, Castel, Stephane E., Hamel, Andrew R., Viñuela, Ana, Roberts, Amy L., Mangul, Serghei, Wen, Xiaoquan, Wang, Gao, Barbeira, Alvaro N., Garrido-Martín, Diego, Nadel, Brian, Zou, Yuxin, Bonazzola, Rodrigo, Quan, Jie, Brown, Andrew, Martinez-Perez, Angel, Soria, José Manuel, Getz, Gad, Dermitzakis, Emmanouil T., Small, Kerrin S., Stephens, Matthew, Xi, Hualin S., Im, Hae Kyung, Guigó, Roderic, Segrè, Ayellet V., Stranger, Barbara E., Ardlie, Kristin G., Lappalainen, Tuuli
Publicado no Science (2020)

Transcriptomic signatures across human tissues identify functional rare genetic variation

Por Ferraro, Nicole M., Strober, Benjamin J., Einson, Jonah, Abell, Nathan S., Aguet, Francois, Barbeira, Alvaro N., Brandt, Margot, Bucan, Maja, Castel, Stephane E., Davis, Joe R., Greenwald, Emily, Hess, Gaelen T., Hilliard, Austin T., Kember, Rachel L., Kotis, Bence, Park, YoSon, Peloso, Gina, Ramdas, Shweta, Scott, Alexandra J., Smail, Craig, Tsang, Emily K., Zekavat, Seyedeh M., Ziosi, Marcello, Aradhana, Ardlie, Kristin G., Assimes, Themistocles L., Bassik, Michael C., Brown, Christopher D., Correa, Adolfo, Hall, Ira, Im, Hae Kyung, Li, Xin, Natarajan, Pradeep, Lappalainen, Tuuli, Mohammadi, Pejman, Montgomery, Stephen B., Battle, Alexis
Publicado no Science (2020)

The impact of sex on gene expression across human tissues

Por Oliva, Meritxell, Muñoz-Aguirre, Manuel, Kim-Hellmuth, Sarah, Wucher, Valentin, Gewirtz, Ariel D. H., Cotter, Daniel J., Parsana, Princy, Kasela, Silva, Balliu, Brunilda, Viñuela, Ana, Castel, Stephane E., Mohammadi, Pejman, Aguet, François, Zou, Yuxin, Khramtsova, Ekaterina A., Skol, Andrew D., Garrido-Martín, Diego, Reverter, Ferran, Brown, Andrew, Evans, Patrick, Gamazon, Eric R., Payne, Anthony, Bonazzola, Rodrigo, Barbeira, Alvaro N., Hamel, Andrew R., Martinez-Perez, Angel, Manuel Soria, José, Consortium, GTEx, Pierce, Brandon L., Stephens, Matthew, Eskin, Eleazar, Dermitzakis, Emmanouil T., Segrè, Ayellet V., Kyung Im, Hae, Engelhardt, Barbara E., Ardlie, Kristin G., Montgomery, Stephen B., Battle, Alexis J., Lappalainen, Tuuli, Guigó, Roderic, Stranger, Barbara E.
Publicado no Science (2020)