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Anzahl der Publikationen: 15
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]
Meul, Thomas; Berschneider, Korbinian; Schmitt, Sabine; Mayr, Christoph H.; Mattner, Laura F.; Schiller, Herbert B.; Yazgili, Ayse S.; Wang, Xinyuan; Lukas, Christina; Schlesser, Camille; Prehn, Cornelia; Adamski, Jerzy; Graf, Elisabeth; Schwarzmayr, Thomas; Perocchi, Fabiana; Kukat, Alexandra; Trifunovic, Aleksandra; Kremer, Laura; Prokisch, Holger; Popper, Bastian; Toerne, Christine von; Hauck, Stefanie M.; Zischka, Hans und Meiners, Silke
(2020):
Mitochondria! Regulation of the 26S Proteasome.
In: Cell Reports, Bd. 32, Nr. 8, 108059
[PDF, 3MB]
Wagner, Alexandra Elisabeth; Schwarzmayr, Thomas; Haeberle, Beate; Vokuhl, Christian; Schmid, Irene; Schweinitz, Dietrich von und Kappler, Roland
(2020):
SP8 Promotes an Aggressive Phenotype in Hepatoblastoma via FGF8 Activation.
In: Cancers, Bd. 12, Nr. 8, 2294
Catania, Alessia; Iuso, Arcangela; Bouchereau, Juliette; Kremer, Laura S.; Paviolo, Marina; Terrile, Caterina; Benit, Paule; Rasmusson, Allan G.; Schwarzmayr, Thomas; Tiranti, Valeria; Rustin, Pierre; Rak, Malgorzata; Prokisch, Holger und Schiff, Manuel
(2019):
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.
In: Orphanet Journal of Rare Diseases, Bd. 14, Nr. 1, 236
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca
(2019):
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
In: Nature Communications, Bd. 10, 4790
[PDF, 2MB]
Sachs, Stephan; Zarini, Simona; Kahn, Darcy E.; Harrison, Kathleen A.; Perreault, Leigh; Phang, Tzu; Newsom, Sean A.; Strauss, Allison; Kerege, Anna; Schön, Jonathan A.; Bessesen, Daniel H.; Schwarzmayr, Thomas; Graf, Elisabeth; Lufter, Dominik; Krumsiek, Jan; Hofmann, Susanna M. und Bergman, Bryan C.
(2019):
Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans.
In: American Journal of Physiology-Endocrinology and Metabolism, Bd. 316, Nr. 5, E866-E879
Fischer, Carola; Milting, Hendrik; Fein, Evelyn; Reiser, Elisabeth; Lu, Kun; Seidel, Thomas; Schinner, Camilla; Schwarzmayr, Thomas; Schramm, Rene; Tomasi, Roland; Husse, Britta; Cao-Ehlker, Xiaochun; Pohl, Ulrich und Dendorfer, Andreas
(2019):
Long-term functional and structural preservation of precision-cut human myocardium under continuous electromechanical stimulation in vitro.
In: Nature Communications, Bd. 10, 117
[PDF, 2MB]
Beck, Alexander; Trippel, Franziska; Wagner, Alexandra; Joppien, Saskia; Felle, Max; Vokuhl, Christian; Schwarzmayr, Thomas; Strom, Tim M.; Schweinitz, Dietrich von; Längst, Gernot und Kappler, Roland
(2018):
Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma.
In: Clinical Epigenetics
10:27
[PDF, 1MB]
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]
Ronchi, Cristina L.; Peverelli, Erika; Herterich, Sabine; Weigand, Isabel; Mantovani, Giovanna; Schwarzmayr, Thomas; Sbiera, Silviu; Allolio, Bruno; Honegger, Jürgen; Appenzeller, Silke; Lania, Andrea G.; Reincke, Martin; Calebiro, Davide; Spada, Anna; Buchfelder, Michael; Flitsch, Joerg; Strom, Tim M. und Fassnacht, Martin
(2016):
Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.
In: European Journal of Endocrinology, Bd. 174, Nr. 3: S. 363-372
Ronchi, Cristina L.; Di Dalmazi, Guido; Faillot, Simon; Sbiera, Silviu; Assié, Guillaume; Weigand, Isabel; Calebiro, Davide; Schwarzmayr, Thomas; Appenzeller, Silke; Rubin, Beatrice; Waldmann, Jens; Scaroni, Carla; Bartsch, Detlef K.; Mantero, Franco; Mannelli, Massimo; Kastelan, Darko; Chiodini, Iacopo; Bertherat, Jerome; Reincke, Martin; Strom, Tim M.; Fassnacht, Martin und Beuschlein, Felix
(2016):
Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 101, Nr. 9: S. 3526-3538
Rhayem, Yara; Perez-Rivas, Luis G.; Dietz, Anna; Bathon, Kerstin; Gebhard, Christian; Riester, Anna; Mauracher, Brigitte; Gomez-Sanchez, Celso; Eisenhofer, Graeme; Schwarzmayr, Thomas; Calebiro, Davide; Strom, Tim M.; Reincke, Martin und Beuschlein, Felix
(2016):
PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 101, Nr. 8: S. 3010-3017
Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K. H.; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M.; Hrabě de Angelis, Martin und Lorenz-Depiereux, Bettina
(2016):
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
In: Mammalian Genome, Bd. 27, Nr. 3-4: S. 111-121
Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha; Agarwala, Vineeta; Gaulton, Kyle J.; Ma, Clement; Fontanillas, Pierre; Moutsianas, Loukas; McCarthy, Davis J.; Rivas, Manuel A.; Perry, John R. B.; Sim, Xueling; Blackwell, Thomas W.; Robertson, Neil R.; Rayner, N. William; Cingolani, Pablo; Locke, Adam E.; Tajes, Juan Fernandez; Highland, Heather M.; Dupuis, Josee; Chines, Peter S.; Lindgren, Cecilia M.; Hartl, Christopher; Jackson, Anne U.; Chen, Han; Huyghe, Jeroen R.; Bunt, Martijn van de; Pearson, Richard D.; Kumar, Ashish; Mueller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M.; Gamazon, Eric R.; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A.; Below, Jennifer E.; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L.; Pasko, Dorota; Parker, Stephen C. J.; Varga, Tibor V.; Green, Todd; Beer, Nicola L.; Day-Williams, Aaron G.; Ferreira, Teresa; Fingerlin, Tasha; Horikoshi, Momoko; Hu, Cheng; Huh, Iksoo; Ikram, Mohammad Kamran; Kim, Bong-Jo; Kim, Yongkang; Kim, Young Jin; Kwon, Min-Seok; Lee, Juyoung; Lee, Selyeong; Lin, Keng-Han; Maxwell, Taylor J.; Nagai, Yoshihiko; Wang, Xu; Welch, Ryan P.; Yoon, Joon; Zhang, Weihua; Barzilai, Nir; Voight, Benjamin F.; Han, Bok-Ghee; Jenkinson, Christopher P.; Kuulasmaa, Teemu; Kuusisto, Johanna; Manning, Alisa; Ng, Maggie C. Y.; Palmer, Nicholette D.; Balkau, Beverley; Stancakova, Alena; Abboud, Hanna E.; Boeing, Heiner; Giedraitis, Vilmantas; Prabhakaran, Dorairaj; Gottesman, Omri; Scott, James; Carey, Jason; Kwan, Phoenix; Grant, George; Smith, Joshua D.; Neale, Benjamin M.; Purcell, Shaun; Butterworth, Adam S.; Howson, Joanna M. M.; Lee, Heung Man; Lu, Yingchang; Kwak, Soo-Heon; Zhao, Wei; Danesh, John; Lam, Vincent K. L.; Park, Kyong Soo; Saleheen, Danish; So, Wing Yee; Tam, Claudia H. T.; Afzal, Uzma; Aguilar, David; Arya, Rector; Aung, Tin; Chan, Edmund; Navarro, Carmen; Cheng, Ching-Yu; Palli, Domenico; Correa, Adolfo; Curran, Joanne E.; Rybin, Denis; Farook, Vidya S.; Fowler, Sharon P.; Freedman, Barry I.; Griswold, Michael; Hale, Daniel Esten; Hicks, Pamela J.; Khor, Chiea-Chuen; Kumar, Satish; Lehne, Benjamin; Thuillier, Dorothee; Lim, Wei Yen; Liu, Jianjun; Schouw, Yvonne T. van der; Loh, Marie; Musani, Solomon K.; Puppala, Sobha; Scott, William R.; Yengo, Loic; Tan, Sian-Tsung; Taylor, Herman A.; Thameem, Farook; Wilson, Gregory; Wong, Tien Yin; Njolstad, Pal Rasmus; Levy, Jonathan C.; Mangino, Massimo; Bonnycastle, Lori L.; Schwarzmayr, Thomas; Fadista, Joao; Surdulescu, Gabriela L.; Herder, Christian; Groves, Christopher J.; Wieland, Thomas; Bork-Jensen, Jette; Brandslund, Ivan; Christensen, Cramer; Koistinen, Heikki A.; Doney, Alex S. F.; Kinnunen, Leena; Esko, Tonu; Farmer, Andrew J.; Hakaste, Liisa; Hodgkiss, Dylan; Kravic, Jasmina; Lyssenko, Valeriya; Hollensted, Mette; Jorgensen, Marit E.; Jorgensen, Torben; Ladenvall, Claes; Justesen, Johanne Marie; Karajamaki, Annemari; Kriebel, Jennifer; Rathmann, Wolfgang; Lannfelt, Lars; Lauritzen, Torsten; Narisu, Narisu; Linneberg, Allan; Melander, Olle; Milani, Lili; Neville, Matt; Orho-Melander, Marju; Qi, Lu; Qi, Qibin; Roden, Michael; Rolandsson, Olov; Swift, Amy; Rosengren, Anders H.; Stirrups, Kathleen; Wood, Andrew R.; Mihailov, Evelin; Blancher, Christine; Carneiro, Mauricio O.; Maguire, Jared; Poplin, Ryan; Shakir, Khalid; Fennell, Timothy; DePristo, Mark; de Angelis, Martin Hrabe; Deloukas, Panos; Gjesing, Anette P.; Jun, Goo; Nilsson, Peter; Murphy, Jacquelyn; Onofrio, Robert; Thorand, Barbara; Hansen, Torben; Meisinger, Christa; Hu, Frank B.; Isomaa, Bo; Karpe, Fredrik; Liang, Liming; Peters, Annette; Huth, Cornelia; O'Rahilly, Stephen P.; Palmer, Colin N. A.; Pedersen, Oluf; Rauramaa, Rainer; Tuomilehto, Jaakko; Salomaa, Veikko; Watanabe, Richard M.; Syvanen, Ann-Christine; Bergman, Richard N.; Bharadwaj, Dwaipayan; Bottinger, Erwin P.; Cho, Yoon Shin; Chandak, Giriraj R.; Chan, Juliana C. N.; Chia, Kee Seng; Daly, Mark J.; Ebrahim, Shah B.; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A.; Lehman, Donna M.; Jia, Weiping; Ma, Ronald C. W.; Pollin, Toni I.; Sandhu, Manjinder; Tandon, Nikhil; Froguel, Philippe; Barroso, Ines; Teo, Yik Ying; Zeggini, Eleftheria; Loos, Ruth J. F.; Small, Kerrin S.; Ried, Janina S.; DeFronzo, Ralph A.; Grallert, Harald; Glaser, Benjamin; Metspalu, Andres; Wareham, Nicholas J.; Walker, Mark; Banks, Eric; Gieger, Christian; Ingelsson, Erik; Im, Hae Kyung; Illig, Thomas; Franks, Paul W.; Buck, Gemma; Trakalo, Joseph; Buck, David; Prokopenko, Inga; Magi, Reedik; Lind, Lars; Farjoun, Yossi; Owen, Katharine R.; Gloyn, Anna L.; Strauch, Konstantin; Tuomi, Tiinamaija; Kooner, Jaspal Singh; Lee, Jong-Young; Park, Taesung; Donnelly, Peter; Morris, Andrew D.; Hattersley, Andrew T.; Bowden, Donald W.; Collins, Francis S.; Atzmon, Gil; Chambers, John C.; Spector, Timothy D.; Laakso, Markku; Strom, Tim M.; Bell, Graeme I.; Blangero, John; Duggirala, Ravindranath; Tai, E. Shyong; McVean, Gilean; Hanis, Craig L.; Wilson, James G.; Seielstad, Mark; Frayling, Timothy M.; Meigs, James B.; Cox, Nancy J.; Sladek, Rob; Lander, Eric S.; Gabriel, Stacey; Burtt, Noel P.; Mohlke, Karen L.; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Florez, Jose C.; Scott, Laura J.; Morris, Andrew P.; Kang, Hyun Min; Boehnke, Michael; Altshuler, David und McCarthy, Mark I.
(2016):
The genetic architecture of type 2 diabetes.
In: Nature, Bd. 536, Nr. 7614: S. 41-47
Schiller, Herbert B.; Fernandez, Isis E.; Burgstaller, Gerald; Schaab, Christoph; Scheltema, Richard A.; Schwarzmayr, Thomas; Strom, Tim M.; Eickelberg, Oliver und Mann, Matthias
(2015):
Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair.
In: Molecular Systems Biology, Bd. 11, Nr. 7, 819
[PDF, 4MB]