Detection of aberrant splicing events in RNA-seq data using FRASER

por Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
Publicado 2021

Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

por Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A. Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perrochi, Daniel Gitler, Israel Sekler
Publicado 2021

Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

por Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A. Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
Publicado 2021

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

por Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Publicado 2016

Differences between human plasma and serum metabolite profiles.

por Zhonghao Yu, Gabi Kastenmüller, Ying He, Petra Belcredi, Gabriele Möller, Cornelia Prehn, Joaquim Mendes, Simone Wahl, Werner Roemisch-Margl, Uta Ceglarek, Alexey Polonikov, Norbert Dahmen, Holger Prokisch, Lu Xie, Yixue Li, H-Erich Wichmann, Annette Peters, Florian Kronenberg, Karsten Suhre, Jerzy Adamski, Thomas Illig, Rui Wang-Sattler
Publicado 2011

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.

por Eva C Schulte, Katharina Schramm, Claudia Schurmann, Peter Lichtner, Christian Herder, Michael Roden, Christian Gieger, Annette Peters, Claudia Trenkwalder, Birgit Högl, Birgit Frauscher, Klaus Berger, Ingo Fietze, Nadine Gross, Karin Stiasny-Kolster, Wolfgang Oertel, Cornelius G Bachmann, Walter Paulus, Alexander Zimprich, Henry Völzke, Ulf Schminke, Matthias Nauck, Thomas Illig, Thomas Meitinger, Bertram Müller-Myhsok, Holger Prokisch, Juliane Winkelmann
Publicado 2014

Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortium.

por Claudia Schurmann, Katharina Heim, Arne Schillert, Stefan Blankenberg, Maren Carstensen, Marcus Dörr, Karlhans Endlich, Stephan B Felix, Christian Gieger, Harald Grallert, Christian Herder, Wolfgang Hoffmann, Georg Homuth, Thomas Illig, Jochen Kruppa, Thomas Meitinger, Christian Müller, Matthias Nauck, Annette Peters, Rainer Rettig, Michael Roden, Konstantin Strauch, Uwe Völker, Henry Völzke, Simone Wahl, Henri Wallaschofski, Philipp S Wild, Tanja Zeller, Alexander Teumer, Holger Prokisch, Andreas Ziegler
Publicado 2012

Mapping the genetic architecture of gene regulation in whole blood.

por Katharina Schramm, Carola Marzi, Claudia Schurmann, Maren Carstensen, Eva Reinmaa, Reiner Biffar, Gertrud Eckstein, Christian Gieger, Hans-Jörgen Grabe, Georg Homuth, Gabriele Kastenmüller, Reedik Mägi, Andres Metspalu, Evelin Mihailov, Annette Peters, Astrid Petersmann, Michael Roden, Konstantin Strauch, Karsten Suhre, Alexander Teumer, Uwe Völker, Henry Völzke, Rui Wang-Sattler, Melanie Waldenberger, Thomas Meitinger, Thomas Illig, Christian Herder, Harald Grallert, Holger Prokisch
Publicado 2014

Genetic diagnosis of Mendelian disorders via RNA sequencing

por Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publicado 2017

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

por Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publicado 2016

Multiple loci are associated with white blood cell phenotypes.

por Michael A Nalls, David J Couper, Toshiko Tanaka, Frank J A van Rooij, Ming-Huei Chen, Albert V Smith, Daniela Toniolo, Neil A Zakai, Qiong Yang, Andreas Greinacher, Andrew R Wood, Melissa Garcia, Paolo Gasparini, Yongmei Liu, Thomas Lumley, Aaron R Folsom, Alex P Reiner, Christian Gieger, Vasiliki Lagou, Janine F Felix, Henry Völzke, Natalia A Gouskova, Alessandro Biffi, Angela Döring, Uwe Völker, Sean Chong, Kerri L Wiggins, Augusto Rendon, Abbas Dehghan, Matt Moore, Kent Taylor, James G Wilson, Guillaume Lettre, Albert Hofman, Joshua C Bis, Nicola Pirastu, Caroline S Fox, Christa Meisinger, Jennifer Sambrook, Sampath Arepalli, Matthias Nauck, Holger Prokisch, Jonathan Stephens, Nicole L Glazer, L Adrienne Cupples, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Tatsuhiko Tsunoda, Toshihiro Tanaka, Michiaki Kubo, Yusuke Nakamura, Kazuhiko Yamamoto, Naoyuki Kamatani, Michael Stumvoll, Anke Tönjes, Inga Prokopenko, Thomas Illig, Kushang V Patel, Stephen F Garner, Brigitte Kuhnel, Massimo Mangino, Ben A Oostra, Swee Lay Thein, Josef Coresh, H-Erich Wichmann, Stephan Menzel, JingPing Lin, Giorgio Pistis, André G Uitterlinden, Tim D Spector, Alexander Teumer, Gudny Eiriksdottir, Vilmundur Gudnason, Stefania Bandinelli, Timothy M Frayling, Aravinda Chakravarti, Cornelia M van Duijn, David Melzer, Willem H Ouwehand, Daniel Levy, Eric Boerwinkle, Andrew B Singleton, Dena G Hernandez, Dan L Longo, Nicole Soranzo, Jacqueline C M Witteman, Bruce M Psaty, Luigi Ferrucci, Tamara B Harris, Christopher J O'Donnell, Santhi K Ganesh
Publicado 2011