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Anzahl der Publikationen: 7
Zeitschriftenartikel
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
Mertes, Christian; Scheller, Ines F.; Yepez, Vicente A.; Celik, Muhammed H.; Liang, Yingjiqiong; Kremer, Laura S.; Gusic, Mirjana; Prokisch, Holger und Gagneur, Julien
(2021):
Detection of aberrant splicing events in RNA-seq data using FRASER.
In: Nature Communications, Bd. 12, Nr. 1, 529
Yepez, Vicente A.; Mertes, Christian; Mueller, Michaela F.; Klaproth-Andrade, Daniela; Wachutka, Leonhard; Fresard, Laure; Gusic, Mirjana; Scheller, Ines F.; Goldberg, Patricia F.; Prokisch, Holger und Gagneur, Julien
(2021):
Detection of aberrant gene expression events in RNA sequencing data.
In: Nature Protocols, Bd. 16, Nr. 2
Hagl, Beate; Spielberger, Benedikt D.; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J.; Verduin, Shira; Eberherr, Andreas C.; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S.; Gijn, Marielle E. van und Renner, Ellen D.
(2018):
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.
In: Scientific Reports, Bd. 8, 16719
[PDF, 3MB]
Brechtmann, Felix; Mertes, Christian; Matuseviciute, Agne; Yepez, Vicente A.; Avsec, Ziga; Herzog, Maximilian; Bader, Daniel M.; Prokisch, Holger und Gagneur, Julien
(2018):
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.
In: American Journal of Human Genetics, Bd. 103, Nr. 6: S. 907-917
Witzel, Maximilian; Petersheim, Daniel; Fan, Yanxin; Bahrami, Ehsan; Racek, Tomas; Rohlfs, Meino; Puchalka, Jacek; Mertes, Christian; Gagneur, Julien; Ziegenhain, Christoph; Enard, Wolfgang; Stray-Pedersen, AsbJörg; Arkwright, Peter D.; Abboud, Miguel R.; Pazhakh, Vahid; Lieschke, Graham J.; Krawitz, Peter M.; Dahlhoff, Maik; Schneider, Marlon R.; Wolf, Eckhard; Horny, Hans-Peter; Schmidt, Heinrich; Schäffer, Alejandro A. und Klein, Christoph
(2017):
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
In: Nature Genetics, Bd. 49, Nr. 5: S. 742-752
Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2017):
Genetic diagnosis of Mendelian disorders via RNA sequencing.
In: Nature Communications, Bd. 8, 15824
[PDF, 1MB]