From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation

by Stranger Barbara E, Dermitzakis Emmanouil T
Published 2006-06-01

The genetics of regulatory variation in the human genome

by Stranger Barbara E, Dermitzakis Emmanouil T
Published 2005-06-01

Olivopontocerebellar atrophy with dementia syndrome

by Georgiadis Georgios, Theofanidis Dimitrios, Nasiopoulou Georgia, Dermitzakis Emmanouil, Fitsioris Xenofon, Gravas Ioannis
Published 2006-02-01

Data analysis issues for allele-specific expression using Illumina's GoldenGate assay

by Dermitzakis Emmanouil T, Daelemans Caroline, Dimas Antigone S, Forrest Matthew S, Ritchie Matthew E, Deloukas Panagiotis, Tavaré Simon
Published 2010-05-01

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

by Clark Taane G, Campino Susana, Forrest Matthew S, Sudbery Ian M, Abu-Amero Sayeda, Smits Guillaume, Ritchie Matthew E, Daelemans Caroline, Stanier Philip, Kwiatkowski Dominic, Deloukas Panos, Dermitzakis Emmanouil T, Tavaré Simon, Moore Gudrun E, Dunham Ian
Published 2010-04-01

Genevar: A Database and Java Application for the Analysis and Visualization of SNP-Gene Associations in eQTL Studies

by Yang, Tsun-Po, Beazley, Claude, Montgomery, Stephen B., Dimas, Antigone S., Gutierrez-Arcelus, Maria, Stranger, Barbara Elaine, Deloukas, Panos, Dermitzakis, Emmanouil T.
Published 2011

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

by Chen, Lu, Ge, Bing, Casale, Francesco Paolo, Vasquez, Louella, Kwan, Tony, Garrido-Martin, Diego, Watt, Stephen, Yan, Ying, Kundu, Kousik, Ecker, Simone, Datta, Avik, Richardson, David, Burden, Frances, Mead, Daniel, Mann, Alice L, Maria Fernandez, Jose, Rowlston, Sophia, Wilder, Steven P, Farrow, Samantha, Shao, Xiaojian, Lambourne, John J, Redensek, Adriana, Albers, Cornelis A, Amstislavskiy, Vyacheslav, Ashford, Sofie, Berentsen, Kim, Bomba, Lorenzo, Bourque, Guillaume, Bujold, David, Busche, Stephan, Caron, Maxime, Chen, Shu-Huang, Cheung, Warren, Delaneau, Oliver, Dermitzakis, Emmanouil T, Elding, Heather, Colgiu, Irina, Bagger, Frederik O, Flicek, Paul, Habibi, Ehsan, Iotchkova, Valentina, Janssen-Megens, Eva, Kim, Bowon, Lehrach, Hans, Lowy, Ernesto, Mandoli, Amit, Matarese, Filomena, Maurano, Matthew T, Morris, John A, Pancaldi, Vera, Pourfarzad, Farzin, Rehnstrom, Karola, Rendon, Augusto, Risch, Thomas, Sharifi, Nilofar, Simon, Marie-Michelle, Sultan, Marc, Valencia, Alfonso, Walter, Klaudia, Wang, Shuang-Yin, Frontini, Mattia, Antonarakis, Stylianos E, Clarke, Laura, Yaspo, Marie-Laure, Beck, Stephan, Guigo, Roderic, Rico, Daniel, Martens, Joost HA, Ouwehand, Willem H, Kuijpers, Taco W, Paul, Dirk S, Stunnenberg, Hendrik G, Stegle, Oliver, Downes, Kate, Pastinen, Tomi, Soranzo, Nicole
Published 2019

Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies

by Panousis, Nikolaos, Gutierrez-Arcelus, Maria, Dermitzakis, Emmanouil, Lappalainen, Tuuli E.
Published 2014

On Quality Control Measures in Genome-wide Association Studies: A Test to Assess the Genotyping Quality of Individual Probands in Family-based Association Studies and an Applicatio...

by Fardo, David W., Ionita-Laza, Iuliana, Dermitzakis, Emmanouil T., Lange, Christoph
Published 2012

Quantitative variability of 342 plasma proteins in a human twin population

by Liu, Yansheng, Buil, Alfonso, Collins, Ben C., Gillet, Ludovic C.J., Blum, Lorenz C., Cheng, Lin-Yang, Vitek, Olga, Mouritsen, Jeppe, Lachance, Genevieve, Spector, Tim D., Dermitzakis, Emmanouil T., Aebersold, Ruedi
Published 2015

Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR

by Scherer, Michael, Gasparoni, Gilles, Rahmouni, Souad, Shashkova, Tatiana, Arnoux, Marion, Louis, Edouard, Nostaeva, Arina, Avalos, Diana, Dermitzakis, Emmanouil T., Aulchenko, Yurii S., Lengauer, Thomas, Lyons, Paul A., Georges, Michel, Walter, Jörn
Published 2021

Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR.

by Scherer, Michael, Gasparoni, Gilles, Rahmouni, Souad, Shashkova, Tatiana, Arnoux, Marion, Louis, Edouard, Nostaeva, Arina, Avalos, Diana, Dermitzakis, Emmanouil T, Aulchenko, Yurii S, Lengauer, Thomas, Lyons, Paul A, Georges, Michel, Walter, Jörn
Published 2021

Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR.

by Scherer, Michael, Gasparoni, Gilles, Rahmouni, Souad, Shashkova, Tatiana, Arnoux, Marion, Louis, Edouard, Nostaeva, Arina, Avalos, Diana, Dermitzakis, Emmanouil T, Aulchenko, Yurii S, Lengauer, Thomas, Lyons, Paul A, Georges, Michel, Walter, Jörn
Published 2021

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.

by Small, Kerrin S, Hedman, Asa K, Grundberg, Elin, Nica, Alexandra C, Thorleifsson, Gudmar, Kong, Augustine, Thorsteindottir, Unnur, Shin, So-Youn, Richards, Hannah B, GIANT Consortium, MAGIC Investigators, DIAGRAM Consortium, Soranzo, Nicole, Ahmadi, Kourosh R, Lindgren, Cecilia M, Stefansson, Kari, Dermitzakis, Emmanouil T, Deloukas, Panos, Spector, Timothy D, McCarthy, Mark I, MuTHER Consortium
Published 2018

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

by Kondelin, Johanna, Salokas, Kari, Saarinen, Lilli, Ovaska, Kristian, Rauanheimo, Heli, Plaketti, Roosa-Maria, Hamberg, Jiri, Liu, Xiaonan, Yadav, Leena, Gylfe, Alexandra E, Cajuso, Tatiana, Hänninen, Ulrika A, Palin, Kimmo, Ristolainen, Heikki, Katainen, Riku, Kaasinen, Eevi, Tanskanen, Tomas, Aavikko, Mervi, Taipale, Minna, Taipale, Jussi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Koskensalo, Selja, Böhm, Jan, Mecklin, Jukka-Pekka, Ongen, Halit, Dermitzakis, Emmanouil T, Kilpivaara, Outi, Vahteristo, Pia, Turunen, Mikko, Hautaniemi, Sampsa, Tuupanen, Sari, Karhu, Auli, Välimäki, Niko, Varjosalo, Markku, Pitkänen, Esa, Aaltonen, Lauri A
Published 2019

Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations

by Nica, Alexandra C., Montgomery, Stephen B., Dimas, Antigone S., Beazley, Claude, Barroso, Inês, Dermitzakis, Emmanouil T., Gibson, Greg, Stranger, Barbara Elaine
Published 2010

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

by Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, Gerstein, Mark
Published 2020

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

by Gamazon, Eric R., Segrè, Ayellet V., van de Bunt, Martijn, Wen, Xiaoquan, Xi, Hualin S., Hormozdiari, Farhad, Ongen, Halit, Konkashbaev, Anuar, Derks, Eske M., Aguet, François, Quan, Jie, GTEx Consortium, Nicolae, Dan L., Eskin, Eleazar, Kamvysselis, Manolis, Getz, Gad, McCarthy, Mark I., Dermitzakis, Emmanouil T., Cox, Nancy J., Ardlie, Kristin G.
Published 2019

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

by Marioni, John C, Thorne, Natalie P, Valsesia, Armand, Fitzgerald, Tomas, Redon, Richard, Fiegler, Heike, Andrews, T Daniel, Stranger, Barbara E, Lynch, Andrew G, Dermitzakis, Emmanouil T, Carter, Nigel P, Tavaré, Simon, Hurles, Matthew E
Published 2011

Contribution of allelic imbalance to colorectal cancer.

by Palin, Kimmo, Pitkänen, Esa, Turunen, Mikko, Sahu, Biswajyoti, Pihlajamaa, Päivi, Kivioja, Teemu, Kaasinen, Eevi, Välimäki, Niko, Hänninen, Ulrika A, Cajuso, Tatiana, Aavikko, Mervi, Tuupanen, Sari, Kilpivaara, Outi, van den Berg, Linda, Kondelin, Johanna, Tanskanen, Tomas, Katainen, Riku, Grau, Marta, Rauanheimo, Heli, Plaketti, Roosa-Maria, Taira, Aurora, Sulo, Päivi, Hartonen, Tuomo, Dave, Kashyap, Schmierer, Bernhard, Botla, Sandeep, Sokolova, Maria, Vähärautio, Anna, Gladysz, Kornelia, Ongen, Halit, Dermitzakis, Emmanouil, Bramsen, Jesper Bertram, Ørntoft, Torben Falck, Andersen, Claus Lindbjerg, Ristimäki, Ari, Lepistö, Anna, Renkonen-Sinisalo, Laura, Mecklin, Jukka-Pekka, Taipale, Jussi, Aaltonen, Lauri A
Published 2019