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Anzahl der Publikationen: 62

Zeitschriftenartikel

Hawe, Johann S.; Saha, Ashis; Waldenberger, Melanie; Kunze, Sonja; Wahl, Simone; Müller-Nurasyid, Martina ORCID logoORCID: https://orcid.org/0000-0003-3793-5910; Prokisch, Holger; Grallert, Harald; Herder, Christian; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Strauch, Konstantin; Theis, Fabian J.; Gieger, Christian; Chambers, John; Battle, Alexis und Heinig, Matthias ORCID logoORCID: https://orcid.org/0000-0002-5612-1720 (2022): Network reconstruction for trans acting genetic loci using multi-omics data and prior information. In: Genome Medicine, Bd. 14, 125 [PDF, 3MB]

Sanin, Veronika ORCID logoORCID: https://orcid.org/0000-0001-5371-7230; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dreßler, Arne; Strom, Tim M; Prokisch, Holger; Meitinger, Thomas; Scheidt, Moritz von ORCID logoORCID: https://orcid.org/0000-0001-7159-8271; Koenig, Wolfgang ORCID logoORCID: https://orcid.org/0000-0002-2064-9603; Leipold, Georg und Schunkert, Heribert (2022): Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. In: European Journal of Public Health, Bd. 32, Nr. 3: S. 422-428 [PDF, 894kB]

Bauer, Alina; Zierer, Astrid; Gieger, Christian; Büyüközkan, Mustafa; Müller-Nurasyid, Martina; Grallert, Harald; Meisinger, Christa; Strauch, Konstantin; Prokisch, Holger; Roden, Michael; Peters, Annette; Krumsiek, Jan; Herder, Christian; Koenig, Wolfgang; Thorand, Barbara und Huth, Cornelia (3. Juni 2021): Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study. In: Genetic Epidemiology: S. 1-18 [PDF, 1MB]

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

Biagosch, Caroline A.; Vidali, Silvia; Faerberboeck, Michael; Hensler, Svenja-Viola; Becker, Lore; Amarie, Oana V.; Aguilar-Pimentel, Antonio; Garrett, Lillian; Klein-Rodewald, Tanja; Rathkolb, Birgit; Zanuttigh, Enrica; Calzada-Wack, Julia; Silva-Buttkus, Patricia da; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Janik, Dirk; Wurst, Wolfgang; Mayr, Johannes A.; Klopstock, Thomas; Meitinger, Thomas; Prokisch, Holger und Iuso, Arcangela (2021): A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. In: Mammalian Genome, Bd. 32, Nr. 5: S. 332-349

Gomez-Alonso, Monica del C.; Kretschmer, Anja; Wilson, Rory; Pfeiffer, Liliane; Karhunen, Ville; Seppala, Ilkka; Zhang, Weihua; Mittelstrass, Kirstin; Wahl, Simone; Matias-Garcia, Pamela R.; Prokisch, Holger; Horn, Sacha; Meitinger, Thomas; Serrano-Garcia, Luis R.; Sebert, Sylvain; Raitakari, Olli; Loh, Marie; Rathmann, Wolfgang; Mueller-Nurasyid, Martina; Herder, Christian; Roden, Michael; Hurme, Mikko; Jarvelin, Marjo-Riitta; Ala-Korpela, Mika; Kooner, Jaspal S.; Peters, Annette; Lehtimaki, Terho; Chambers, John C.; Gieger, Christian; Kettunen, Johannes und Waldenberger, Melanie (2021): DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures. In: Clinical Epigenetics, Bd. 13, Nr. 1, 7

Klopstock, Thomas; Priglinger, Claudia; Yilmaz, Ali; Kornblum, Cornelia; Distelmaier, Felix und Prokisch, Holger (2021): Mitochondrial Disorders. In: Deutsches Arzteblatt International, Bd. 118, Nr. 44: S. 741-748

Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas und Staufner, Christian (2021): NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1781-1793

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

Schlosser, Pascal; Tin, Adrienne; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Weihs, Antoine; Yu, Zhi; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Adeyemo, Adebowale A.; Agyemang, Charles; Arnlov, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Chambers, John C.; Cole, Shelley A.; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Klein, Niek de; Delgado, Graciela E.; Domingo-Relloso, Arce; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Evans, Kathryn L.; Floyd, James S.; Fornage, Myriam; Franke, Lude; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Jarvelin, Marjo-Riitta; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kramer, Holly; Kronenberg, Florian; Kuhnel, Brigitte; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Liu, Yongmei; Lloyd-Jones, Donald M.; Lohman, Kurt; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Navas-Acien, Ana; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Rosas, Sylvia E.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Tellez-Plaza, Maria; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Verweij, Niek; Walker, Rosie M.; Wielscher, Matthias; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Levy, Daniel; Waldenberger, Melanie; Susztak, Katalin; Kottgen, Anna und Teumer, Alexander (2021): Meta-analyses identify DNA methylation associated with kidney function and damage. In: Nature Communications, Bd. 12, Nr. 1, 7174

Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka und Prokisch, Holger (2021): Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ... In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267

Tin, Adrienne; Schlosser, Pascal; Matias-Garcia, Pamela R.; Thio, Chris H. L.; Joehanes, Roby; Liu, Hongbo; Yu, Zhi; Weihs, Antoine; Hoppmann, Anselm; Grundner-Culemann, Franziska; Min, Josine L.; Kuhns, Victoria L. Halperin; Adeyemo, Adebowale A.; Agyemang, Charles; Ärnlöv, Johan; Aziz, Nasir A.; Baccarelli, Andrea; Bochud, Murielle; Brenner, Hermann; Bressler, Jan; Breteler, Monique M. B.; Carmeli, Cristian; Chaker, Layal; Coresh, Josef; Corre, Tanguy; Correa, Adolfo; Cox, Simon R.; Delgado, Graciela E.; Eckardt, Kai-Uwe; Ekici, Arif B.; Endlich, Karlhans; Floyd, James S.; Fraszczyk, Eliza; Gao, Xu; Gao, Xin; Gelber, Allan C.; Ghanbari, Mohsen; Ghasemi, Sahar; Gieger, Christian; Greenland, Philip; Grove, Megan L.; Harris, Sarah E.; Hemani, Gibran; Henneman, Peter; Herder, Christian; Horvath, Steve; Hou, Lifang; Hurme, Mikko A.; Hwang, Shih-Jen; Kardia, Sharon L. R.; Kasela, Silva; Kleber, Marcus E.; Koenig, Wolfgang; Kooner, Jaspal S.; Kronenberg, Florian; Kuehnel, Brigitte; Ladd-Acosta, Christine; Lehtimaki, Terho; Lind, Lars; Liu, Dan; Lloyd-Jones, Donald M.; Lorkowski, Stefan; Lu, Ake T.; Marioni, Riccardo E.; Marz, Winfried; McCartney, Daniel L.; Meeks, Karlijn A. C.; Milani, Lili; Mishra, Pashupati P.; Nauck, Matthias; Nowak, Christoph; Peters, Annette; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ratliff, Scott M.; Reiner, Alex P.; Schottker, Ben; Schwartz, Joel; Sedaghat, Sanaz; Smith, Jennifer A.; Sotoodehnia, Nona; Stocker, Hannah R.; Stringhini, Silvia; Sundstrom, Johan; Swenson, Brenton R.; Meurs, Joyce B. J. van; Vliet-Ostaptchouk, Jana V. van; Venema, Andrea; Volker, Uwe; Winkelmann, Juliane; Wolffenbuttel, Bruce H. R.; Zhao, Wei; Zheng, Yinan; Loh, Marie; Snieder, Harold; Waldenberger, Melanie; Levy, Daniel; Akilesh, Shreeram; Woodward, Owen M.; Susztak, Katalin; Teumer, Alexander und Kottgen, Anna (2021): Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus. In: Nature Communications, Bd. 12, Nr. 1, 7173

Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E.; Meisterknecht, Jana; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V.; Becker, Lore; Breen, Catherine; Calzada-Wack, Julia; Chhabra, Nirav F.; Cho, Yi-Li; Silva-Buttkus, Patricia da; Feichtinger, Rene G.; Gampe, Kristine; Garrett, Lillian; Hoefig, Kai P.; Hoelter, Sabine M.; Jameson, Elisabeth; Klein-Rodewald, Tanja; Leuchtenberger, Stefanie; Marschall, Susan; Mayer-Kuckuk, Philipp; Miller, Gregor; Oestereicher, Manuela A.; Pfannes, Kristina; Rathkolb, Birgit; Rozman, Jan; Sanders, Charlotte; Spielmann, Nadine; Stoeger, Claudia; Szibor, Marten; Treise, Irina; Walter, John H.; Wurst, Wolfgang; Mayr, Johannes A.; Fuchs, Helmut; Gaertner, Ulrich; Wittig, Ilka; Taylor, Robert W.; Newman, William G.; Prokisch, Holger; Gailus-Durner, Valerie und Hrabe de Angelis, Martin (2021): Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. In: EMBO Molecular Medicine, Bd. 13, Nr. 12, e14397

Vosa, Urmo; Claringbould, Annique; Westra, Harm-Jan; Bonder, Marc Jan; Deelen, Patrick; Zeng, Biao; Kirsten, Holger; Saha, Ashis; Kreuzhuber, Roman; Yazar, Seyhan; Brugge, Harm; Oelen, Roy; Vries, Dylan H. de; Wijst, Monique G. P. van der; Kasela, Silva; Pervjakova, Natalia; Alves, Isabel; Fave, Marie-Julie; Agbessi, Mawusse; Christiansen, Mark W.; Jansen, Rick; Seppala, Ilkka; Tong, Lin; Teumer, Alexander; Schramm, Katharina; Hemani, Gibran; Verlouw, Joost; Yaghootkar, Hanieh; Flitman, Reyhan Sonmez; Brown, Andrew; Kukushkina, Viktorija; Kalnapenkis, Anette; Rueger, Sina; Porcu, Eleonora; Kronberg, Jaanika; Kettunen, Johannes; Lee, Bernett; Zhang, Futao; Qi, Ting; Hernandez, Jose Alquicira; Arindrarto, Wibowo; Beutner, Frank; Dmitrieva, Julia; Elansary, Mahmoud; Fairfax, Benjamin P.; Georges, Michel; Heijmans, Bastiaan T.; Hewitt, Alex W.; Kahonen, Mika; Kim, Yungil; Knight, Julian C.; Kovacs, Peter; Krohn, Knut; Li, Shuang; Loeffler, Markus; Marigorta, Urko M.; Mei, Hailang; Momozawa, Yukihide; Müller-Nurasyid, Martina; Nauck, Matthias; Nivard, Michel G.; Penninx, Brenda W. J. H.; Pritchard, Jonathan K.; Raitakari, Olli T.; Rotzschke, Olaf; Slagboom, Eline P.; Stehouwer, Coen D. A.; Stumvoll, Michael; Sullivan, Patrick; Hoen, Peter A. C. 't; Thiery, Joachim; Tonjes, Anke; Dongen, Jenny van; Iterson, Maarten van; Veldink, Jan H.; Voelker, Uwe; Warmerdam, Robert; Wijmenga, Cisca; Swertz, Morris; Andiappan, Anand; Montgomery, Grant W.; Ripatti, Samuli; Perola, Markus; Kutalik, Zoltan; Dermitzakis, Emmanouil; Bergmann, Sven; Frayling, Timothy; Meurs, Joyce van; Prokisch, Holger; Ahsan, Habibul; Pierce, Brandon L.; Lehtimaki, Terho; Boomsma, Dorret I.; Psaty, Bruce M.; Gharib, Sina A.; Awadalla, Philip; Milani, Lili; Ouwehand, Willem H.; Downes, Kate; Stegle, Oliver; Battle, Alexis; Visscher, Peter M.; Yang, Jian; Scholz, Markus; Powell, Joseph; Gibson, Greg; Esko, Tonu und Franke, Lude (2021): Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. In: Nature Genetics, Bd. 53, Nr. 9: S. 1300-1310

Yao, Chen; Joehanes, Roby; Wilson, Rory; Tanaka, Toshiko; Ferrucci, Luigi; Kretschmer, Anja; Prokisch, Holger; Schramm, Katharina; Gieger, Christian; Peters, Annette; Waldenberger, Melanie; Marzi, Carola; Herder, Christian und Levy, Daniel (2021): Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases. In: Clinical Epigenetics, Bd. 13, Nr. 1, 60

Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas (2020): Delineating MT-ATP6-associated disease. In: Neurology-Genetics, Bd. 6, Nr. 1, e393

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane (2020): Monogenic variants in dystonia: an exome-wide sequencing study. In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918

Werning, Maike; Muellner, Ernst W.; Mlynek, Georg; Dobretzberger, Verena; Djinovic-Carugo, Kristina; Baron, David M.; Prokisch, Holger; Buechner, Boriana; Klopstock, Thomas und Salzer, Ulrich (2020): PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. In: Annals of Clinical and Translational Neurology, Bd. 7, Nr. 8: S. 1340-1351

Lenz, Dominic; Stahl, Mirjam; Seidl, Elias; Schoendorf, Dominik; Brennenstuhl, Heiko; Gesenhues, Florian; Heinzmann, Tina; Longerich, Thomas; Mendes, Marisa I.; Prokisch, Holger; Salomons, Gajja S.; Schoen, Carola; Smith, Desiree E. C.; Sommerburg, Olaf; Wagner, Matias; Westhoff, Jens H.; Reiter, Karl; Staufner, Christian und Griese, Matthias (2020): Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants. In: Pediatric Pulmonology, Bd. 55, Nr. 11: S. 3057-3066

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

Tan, Jing; Wagner, Matias; Stenton, Sarah L.; Strom, Tim M.; Wortmann, Saskia B.; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad und Klopstock, Thomas (2020): Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. In: Ebiomedicine, Bd. 54, 102730

Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic (2020): Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621

Maas, Silvana C. E.; Mens, Michelle M. J.; Kuehnel, Brigitte; Meurs, Joyce B. J. van; Uitterlinden, Andre G.; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Prokisch, Holger; Herder, Christian; Grallert, Harald; Kunze, Sonja; Waldenberger, Melanie; Kavousi, Maryam; Kayser, Manfred und Ghanbari, Mohsen (2020): Smoking-related changes in DNA methylation and gene expression are associated with cardio-metabolic traits. In: Clinical Epigenetics, Bd. 12, Nr. 1, 157 [PDF, 1MB]

Linner, Richard Karlsson; Biroli, Pietro; Kong, Edward; Meddens, Fleur W.; Wedow, Robbee; Fontana, Mark Alan; Lebreton, Mael; Tino, Stephen P.; Abdellaoui, Abdel; Hammerschlag, Anke R.; Nivard, Michel G.; Okbay, Aysu; Rietveld, Cornelius A.; Timshel, Pascal N.; Trzaskowski, Maciej; de Vlaming, Ronald; Zund, Christian L.; Bao, Yanchun; Buzdugan, Laura; Caplin, Ann H.; Chen, Chia-Yen; Eibich, Peter; Fontanillas, Pierre; Gonzalez, Juan R.; Joshi, Peter K.; Karhunen, Ville; Kleinman, Aaron; Levin, Remy Z.; Lill, Christina M.; Meddens, Gerardus A.; Muntane, Gerard; Sanchez-Roige, Sandra; van Rooij, Frank J.; Taskesen, Erdogan; Wu, Yang; Zhang, Futao; Agee, Michelle; Alipanahi, Babak; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Furlotte, Nicholas A.; Huber, Karen E.; Litterman, Nadia K.; McCreight, Jennifer C.; McIntyre, Matthew H.; Mountain, Joanna L.; Northover, Carrie A. M.; Pitts, Steven J.; Sathirapongsasuti, J. Fah; Sazonova, Olga V.; Shelton, Janie F.; Shringarpure, Suyash; Tian, Chao; Tung, Joyce Y.; Vacic, Vladimir; Wilson, Catherine H.; Agbessi, Mawusse; Ahsan, Habibul; Alves, Isabel; Andiappan, Anand; Awadalla, Philip; Battle, Alexis; Beutner, Frank; Bonder, Marc Jan; Boomsma, Dorret I.; Christiansen, Mark; Claringbould, Annique; Deelen, Patrick; Esko, Tonu; Fave, Marie-Julie; Franke, Lude; Frayling, Timothy; Gharib, Sina A.; Gibson, Gregory; Heijmans, Bastiaan; Hemani, Gibran; Jansen, Rick; Kahonen, Mika; Kalnapenkis, Anette; Kasela, Silva; Kettunen, Johannes; Kim, Yungil; Kirsten, Holger; Kovacs, Peter; Krohn, Knut; Kronberg-Guzman, Jaanika; Kukushkina, Viktorija; Kutalik, Zoltan; Lee, Bernett; Lehtimaki, Terho; Löffler, Markus; Marigorta, Urko M.; Metspalu, Andres; Milani, Lili; Montgomery, Grant W.; Müller-Nurasyid, Martina; Nauck, Matthias; Penninx, Brenda; Perola, Markus; Pervjakova, Natalia; Pierce, Brandon; Powell, Joseph; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli; Ring, Susan; Ripatti, Samuli; Rotzchke, Olaf; Rueger, Sina; Saha, Ashis; Scholz, Markus; Schramm, Katharina; Seppala, Ilkka; Stumvoll, Michael; Sullivan, Patrick; Hoen, Peter-Bramt; Teumer, Alexander; Thiery, Joachim; Tong, Lin; Tonjes, Anke; van Dongen, Jenny; van Meurs, Joyce; Verlouw, Joost; Visscher, Peter M.; Voelker, Uwe; Vosa, Urmo; Westra, Harm-Jan; Yaghootkar, Hanieh; Yang, Jian; Zeng, Biao; Lee, James J.; Pers, Tune H.; Turley, Patrick; Chen, Guo-Bo; Emilsson, Valur; Oskarsson, Sven; Pickrell, Joseph K.; Thom, Kevin; Timshel, Pascal; Ahluwalia, Tarunveer S.; Bacelis, Jonas; Baumbach, Clemens; Bjornsdottir, Gyda; Brandsma, Johannes H.; Concas, Maria Pina; Derringer, Jaime; Furlotte, Nicholas A.; Galesloot, Tessel E.; Girotto, Giorgia; Gupta, Richa; Hall, Leanne M.; Harris, Sarah E.; Hofer, Edith; Horikoshi, Momoko; Huffman, Jennifer E.; Kaasik, Kadri; Kalafati, Ioanna P.; Kong, Augustine; Lahti, Jari; van der Lee, Sven J.; de Leeuw, Christiaan; Lind, Penelope A.; Lindgren, Karl-Oskar; Liu, Tian; Mangino, Massimo; Marten, Jonathan; Mihailov, Evelin; Miller, Michael B.; van der Most, Peter J.; Oldmeadow, Christopher; Payton, Antony; Pervjakova, Natalia; Peyrot, Wouter J.; Qian, Yong; Raitakari, Olli; Rueedi, Rico; Salvi, Erika; Schmidt, Boerge; Schraut, Katharina E.; Shi, Jianxin; Smith, Albert V.; Poot, Raymond A.; St Pourcain, Beate; Teumer, Alexander; Thorleifsson, Gudmar; Verweij, Niek; Vuckovic, Dragana; Wellmann, Jürgen; Westra, Harm-Jan; Yang, Jingyun; Zhao, Wei; Zhu, Zhihong; Alizadeh, Behrooz Z.; Amin, Najaf; Bakshi, Andrew; Baumeister, Sebastian E.; Biino, Ginevra; Bonnelykke, Klaus; Boyle, Patricia A.; Campbell, Harry; Cappuccio, Francesco P.; Davies, Gail; De Neve, Jan-Emmanuel; Deloukas, Panos; Demuth, Ilja; Ding, Jun; Eibich, Peter; Eisele, Lewin; Eklund, Niina; Evans, David M.; Faul, Jessica D.; Feitosa, Mary F.; Forstner, Andreas J.; Gandin, Ilaria; Gunnarsson, Bjarni; Halldorsson, Bjarni V.; Harris, Tamara B.; Heath, Andrew C.; Hocking, Lynne J.; Holliday, Elizabeth G.; Homuth, Georg; Horan, Michael A.; Hottenga, Jouke-Jan; de Jager, Philip L.; Jugessur, Astanand; Kaakinen, Marika A.; Kahonen, Mika; Kanoni, Stavroula; Keltigangas-Jarvinen, Liisa; Kiemeney, Lambertus A. L. M.; Kolcic, Ivana; Koskinen, Seppo; Kraja, Aldi T.; Kroh, Martin; Kutalik, Zoltan; Latvala, Antti; Launer, Lenore J.; Lebreton, Mael P.; Levinson, Douglas F.; Lichtenstein, Paul; Lichtner, Peter; Liewald, David C. M.; Loukola, Anu; Madden, Pamela A.; Magi, Reedik; Maki-Opas, Tomi; Marioni, Riccardo E.; Marques-Vidal, Pedro; McMahon, George; Meisinger, Christa; Meitinger, Thomas; Milaneschi, Yusplitri; Milani, Lili; Montgomery, Grant W.; Myhre, Ronny; Nelson, Christopher P.; Nyholt, Dale R.; Ollier, William E. R.; Palotie, Aarno; Paternoster, Lavinia; Pedersen, Nancy L.; Petrovic, Katja E.; Porteous, David J.; Raikkonen, Katri; Ring, Susan M.; Robino, Antonietta; Rostapshova, Olga; Rudan, Igor; Rustichini, Aldo; Salomaa, Veikko; Sanders, Alan R.; Sarin, Antti-Pekka; Schmidt, Helena; Scott, Rodney J.; Smith, Blair H.; Smith, Jennifer A.; Staessen, Jan A.; Steinhagen-Thiessen, Elisabeth; Strauch, Konstantin; Terracciano, Antonio; Tobin, Martin D.; Ulivi, Sheila; Vaccargiu, Simona; Quaye, Lydia; Venturini, Cristina; Vinkhuyzen, Anna A. E.; Voelker, Uwe; Voelzke, Henry; Vonk, Judith M.; Vozzi, Diego; Waage, Johannes; Ware, Erin B.; Willemsen, Gonneke; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Bisgaard, Hans; Boomsma, Dorret I.; Borecki, Ingrid B.; Bultmann, Ute; Chabris, Christopher F.; Cucca, Francesco; Cusi, Daniele; Deary, J.; Dedoussis, George V.; van Duijn, Cornelia M.; Eriksson, Johan G.; Franke, Barbara; Franke, Lude; Gasparini, Paolo; Gejman, Pablo V.; Gieger, Christian; Grabe, Hans-Jörgen; Gratten, Jacob; Gudnason, Vilmundur; van der Harst, Pim; Hayward, Caroline; Hinds, David A.; Hoffmann, Wolfgang; Hypponen, Elina; Iacono, William G.; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Jockel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L. R.; Lehtimaki, Terho; Lehrer, Steven F.; Magnusson, Patrik K. E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Pendleton, Neil; Penninx, Brenda; Perola, Markus; Pirastu, Nicola; Pirastu, Mario; Polasek, Ozren; Posthuma, Danielle; Power, Christine; Province, Michael A.; Samani, Nilesh J.; Schlessinger, David; Schmidt, Reinhold; Sorensen, Thorkild I. A.; Spector, Tim D.; Stefansson, Kari; Thorsteinsdottir, Unnur; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Tung, Joyce Y.; Uitterlinden, Andre G.; Vitart, Veronique; Vollenweider, Peter; Weir, David R.; Wilson, James F.; Wright, Alan F.; Conley, Dalton C.; Krüger, Robert F.; Smith, George Davey; Laibson, David I.; Medland, Sarah E.; Yang, Jian; Johannesson, Magnus; Visscher, Peter M.; Esko, Tonu; Koellinger, Philipp D.; Cesarini, David; Benjamin, Daniel J.; Auton, Adam; Boardman, Jason D.; Clark, David W.; Conlin, Andrew; Dolan, Conor C.; Fischbacher, Urs; Groenen, Patrick J. F.; Harris, Kathleen Mullan; Hasler, Gregor; Hofman, Albert; Ikram, Mohammad A.; Jain, Sonia; Karlsson, Robert; Kessler, Ronald C.; Kooyman, Maarten; MacKillop, James; Mannikko, Minna; Morcillo-Suarez, Carlos; McQueen, Matthew B.; Schmidt, Klaus M.; Smart, Melissa C.; Sutter, Matthias; Thurik, A. Roy; Uitterlinden, Andre G.; White, Jon; de Wit, Harriet; Yang, Jian; Bertram, Lars; Boomsma, Dorret I.; Esko, Tonu; Fehr, Ernst; Hinds, David A.; Johannesson, Magnus; Kumari, Meena; Laibson, David; Magnusson, Patrik K. E.; Meyer, Michelle N.; Navarro, Arcadi; Palmer, Abraham A.; Pers, Tune H.; Posthuma, Danielle; Schunk, Daniel; Stein, Murray B.; Svento, Rauli; Tiemeier, Henning; Timmers, Paul R. H. J.; Turley, Patrick; Ursano, Robert J.; Wagner, Gert G.; Wilson, James F.; Gratten, Jacob; Lee, James J.; Cesarini, David; Benjamin, Daniel J.; Koellinger, Philipp D. und Beauchamp, Jonathan P. (2019): Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. In: Nature Genetics, Bd. 51, Nr. 2

Schlicht, Kristina; Nyczka, Piotr; Caliebe, Amke; Freitag-Wolf, Sandra; Claringbould, Annique; Franke, Lude; Vosa, Urmo; Kardia, Sharon L. R.; Smith, Jennifer A.; Zhao, Wei; Gieger, Christian; Peters, Annette; Prokisch, Holger; Strauch, Konstantin; Baurecht, HansJörg; Weidinger, Stephan; Rosenstiel, Philip; Huett, Marc-Thorsten; Knecht, Carolin; Szymczak, Silke und Krawczak, Michael (2019): The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. In: Human Genetics, Bd. 138, Nr. 4: S. 375-388

Porcu, Eleonora; Rüeger, Sina; Lepik, Kaido; Agbessi, Mawusse; Ahsan, Habibul; Alves, Isabel; Andiappan, Anand; Arindrarto, Wibowo; Awadalla, Philip; Battle, Alexis; Beutner, Frank; Bonder, Marc Jan; Boomsma, Dorret; Christiansen, Mark; Claringbould, Annique; Deelen, Patrick; Esko, Tonu; Fave, Marie-Julie; Franke, Lude; Frayling, Timothy; Gharib, Sina A.; Gibson, Gregory; Heijmans, Bastiaan T.; Hemani, Gibran; Jansen, Rick; Kahonen, Mika; Kalnapenkis, Anette; Kasela, Silva; Kettunen, Johannes; Kim, Yungil; Kirsten, Holger; Kovacs, Peter; Krohn, Knut; Kronberg-Guzman, Jaanika; Kukushkina, Viktorija; Lee, Bernett; Lehtimaki, Terho; Löffler, Markus; Marigorta, Urko M.; Mei, Hailang; Milani, Lili; Montgomery, Grant W.; Müller-Nurasyid, Martina; Nauck, Matthias; Nivard, Michel; Penninx, Brenda; Perola, Markus; Pervjakova, Natalia; Pierce, Brandon L.; Powell, Joseph; Prokisch, Holger; Psaty, Bruce M.; Raitakari, Olli T.; Ripatti, Samuli; Rotzschke, Olaf; Saha, Ashis; Scholz, Markus; Schramm, Katharina; Seppala, Ilkka; Slagboom, Eline P.; Stehouwer, Coen D. A.; Stumvoll, Michael; Sullivan, Patrick; Hoen, Peter A. C. 't; Teumer, Alexander; Thiery, Joachim; Tong, Lin; Tonjes, Anke; Dongen, Jenny van; Iterson, Maarten van; Meurs, Joyce van; Veldink, Jan H.; Verlouw, Joost; Visscher, Peter M.; Volker, Uwe; Vosa, Urmo; Westra, Harm-Jan; Wijmenga, Cisca; Yaghootkar, Hanieh; Yang, Jian; Zeng, Biao; Zhang, Futao; Arindrarto, Wibowo; Beekman, Marian; Boomsma, Dorret I.; Bot, Jan; Deelen, Joris; Deelen, Patrick; Franke, Lude; Heijmans, Bastiaan T.; Hofman, Bert A.; Hottenga, Jouke J.; Isaacs, Aaron; Bonder, Marc Jan; Jhamai, P. Mila; Jansen, Rick; Kielbasa, Szymon M.; Lakenberg, Nico; Luijk, Rene; Mei, Hailiang; Moed, Matthijs; Nooren, Irene; Pool, Rene; Schalkwijk, Casper G.; Slagboom, P. Eline; Stehouwer, Coen D. A.; Suchiman, H. Eka D.; Swertz, Morris A.; Tigchelaar, Ettje F.; Uitterlinden, Andre G.; Berg, Leonard H. van den; Breggen, Ruud van der; Kallen, Carla J. H. van der; Dijk, Freerk van; Dongen, Jenny van; Duijn, Cornelia M. van; Galen, Michiel van; Greevenbroek, Marleen M. J. van ORCID logoORCID: https://orcid.org/0000-0002-2989-1631; Heemst, Diana van; Iterson, Maarten van; Meurs, Joyce van; Rooij, Jeroen van; Hof, Peter van't; Zwet, Erik. W. van; Vermaat, Martijn; Veldink, Jan H.; Verbiest, Michael; Verkerk, Marijn; Wijmenga, Cisca; Zhernakova, Dasha V.; Zhernakova, Sasha; Santoni, Federico A.; Reymond, Alexandre und Kutalik, Zoltan (2019): Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits. In: Nature Communications, Bd. 10, 3300 [PDF, 1MB]

Alves, Alexessander Couto; De Silva, N. Maneka G.; Karhunen, Ville; Sovio, Ulla; Das, Shikta; Taal, H. Rob; Warrington, Nicole M.; Lewin, Alexandra M.; Kaakinen, Marika; Cousminer, Diana L.; Thiering, Elisabeth; Timpson, Nicholas J.; Bond, Tom A.; Lowry, Estelle; Brown, Christopher D.; Estivill, Xavier; Lindi, Virpi; Bradfield, Jonathan P.; Geller, Frank; Speed, Doug; Coin, Lachlan J. M.; Loh, Marie; Barton, Sheila J.; Beilin, Lawrence J.; Bisgaard, Hans; Bonnelykke, Klaus; Alili, Rohia; Hatoum, Ida J.; Schramm, Katharina; Cartwright, Rufus; Charles, Marie-Aline; Salerno, Vincenzo; Clement, Karine; Claringbould, Annique A. J.; van Duijn, Cornelia M.; Moltchanova, Elena; Eriksson, Johan G.; Elks, Cathy; Feenstra, Bjarke; Flexeder, Claudia; Franks, Stephen; Frayling, Timothy M.; Freathy, Rachel M.; Elliott, Paul; Widen, Elisabeth; Hakonarson, Hakon; Hattersley, Andrew T.; Rodriguez, Alina; Banterle, Marco; Heinrich, Joachim; Heude, Barbara; Holloway, John W.; Hofman, Albert; Hypponen, Elina; Inskip, Hazel; Kaplan, Lee M.; Hedman, Asa K.; Laara, Esa; Prokisch, Holger; Grallert, Harald; Lakka, Timo A.; Lawlor, Debbie A.; Melbye, Mads; Ahluwalia, Tarunveer S.; Marinelli, Marcella; Millwood, Iona Y.; Palmer, Lyle J.; Pennell, Craig E.; Perry, John R.; Ring, Susan M.; Savolainen, Markku J.; Rivadeneira, Fernando; Standl, Marie; Sunyer, Jordi; Tiesler, Carla M. T.; Uitterlinden, Andre G.; Schierding, William; O'Sullivan, Justin M.; Prokopenko, Inga; Herzig, Karl-Heinz; Smith, George Davey; O'Reilly, Paul; Felix, Janine F.; Buxton, Jessica L.; Blakemore, Alexandra I. F.; Ong, Ken K.; Jaddoe, Vincent W. V.; Grant, Struan F. A.; Sebert, Sylvain; McCarthy, Mark I. und Jarvelin, Marjo-Riitta (2019): GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. In: Science Advances, Bd. 5, Nr. 9, eaaw3095

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

Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai, Nguyen; Buchert, Rebecca; Jünger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B. und Dumont, Nicolas A. (2019): Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2521-2531

Yepez, Vicente A.; Kremer, Laura S.; Iuso, Arcangela; Gusic, Mirjana; Kopajtich, Robert; Konarikova, Eliska; Nadel, Agnieszka; Wachutka, Leonhard; Prokisch, Holger und Gagneur, Julien (2018): OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.
In: PLOS One 13(7), e0199938 [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

Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix und Koch, Johannes (2018): PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. In: Neuropediatrics, Bd. 49, Nr. 5: S. 330-338

Xu, Zhiwen; Lo, Wing-Sze; Beck, David B.; Schuch, Luise A.; Olahova, Monika; Kopajtich, Robert; Chong, Yeeting E.; Alston, Charlotte L.; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A.; Borczuk, Alain C.; Teich, Andrew F.; Juusola, Jane; Sofeso, Christina; Müller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D.; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A.; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W.; Prokisch, Holger; Griese, Matthias; Chung, Wendy K. und Schimmel, Paul (2018): Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. In: American Journal of Human Genetics, Bd. 103, Nr. 1: S. 100-114

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia (2018): Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? In: Orphanet Journal of Rare Diseases 13:120 [PDF, 3MB]

Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne und Haack, Tobias B. (2018): Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. In: American Journal of Human Genetics, Bd. 103, Nr. 5: S. 817-825

Wahl, Simone; Drong, Alexander; Lehne, Benjamin; Loh, Marie; Scott, William R.; Kunze, Sonja; Tsai, Pei-Chien; Ried, Janina S.; Zhang, Weihua; Yang, Youwen; Tan, Sili; Fiorito, Giovanni; Franke, Lude; Guarrera, Simonetta; Kasela, Silva; Kriebel, Jennifer; Richmond, Rebecca C.; Adamo, Marco; Afzal, Uzma; Ala-Korpela, Mika; Albetti, Benedetta; Ammerpohl, Ole; Apperley, Jane F.; Beekman, Marian; Bertazzi, Pier Alberto; Black, S. Lucas; Blancher, Christine; Bonder, Marc-Jan; Brosch, Mario; Carstensen-Kirberg, Maren; Craen, Anton J. M. de; Lusignan, Simon de; Dehghan, Abbas; Elkalaawy, Mohamed; Fischer, Krista; Franco, Oscar H.; Gaunt, Tom R.; Hampe, Jochen; Hashemi, Majid; Isaacs, Aaron; Jenkinson, Andrew; Jha, Sujeet; Kato, Norihiro; Krogh, Vittorio; Laffan, Michael; Meisinger, Christa; Meitinger, Thomas; Mok, Zuan Yu; Motta, Valeria; Ng, Hong Kiat; Nikolakopoulou, Zacharoula; Nteliopoulos, Georgios; Panico, Salvatore; Pervjakova, Natalia; Prokisch, Holger; Rathmann, Wolfgang; Roden, Michael; Rota, Federica; Rozario, Michelle Ann; Sandling, Johanna K.; Schafmayer, Clemens; Schramm, Katharina; Siebert, Reiner; Slagboom, P. Eline; Soininen, Pasi; Stolk, Lisette; Strauch, Konstantin; Tai, E-Shyong; Tarantini, Letizia; Thorand, Barbara; Tigchelaar, Ettje F.; Tumino, Rosario; Uitterlinden, Andre G.; Duijn, Cornelia van; Meurs, Joyce B. J. van; Vineis, Paolo; Wickremasinghe, Ananda Rajitha; Wijmenga, Cisca; Yang, Tsun-Po; Yuan, Wei; Zhernakova, Alexandra; Batterham, Rachel L.; Smith, George Davey; Deloukas, Panos; Heijmans, Bastiaan T.; Herder, Christian; Hofman, Albert; Lindgren, Cecilia M.; Milani, Lili; Harst, Pim van der; Peters, Annette; Illig, Thomas; Relton, Caroline L.; Waldenberger, Melanie; Järvelin, Marjo-Riitta; Bollati, Valentina; Soong, Richie; Spector, Tim D.; Scott, James; McCarthy, Mark I.; Elliott, Paul; Bell, Jordana T.; Matullo, Giuseppe; Gieger, Christian; Kooner, Jaspal S.; Grallert, Harald und Chambers, John C. (2017): Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity. In: Nature, Bd. 541, Nr. 7635: 81-+

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]

Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger und Klopstock, Thomas (2017): Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA. In: Mitochondrion, Bd. 36: S. 15-20

Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G. und Klopstock, Thomas (2016): Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry. In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972

Marzi, Carola; Holdt, Lesca M.; Fiorito, Giovanni; Tsai, Pei-Chien; Kretschmer, Anja; Wahl, Simone; Guarrera, Simonetta; Teupser, Daniel; Spector, Tim D.; Iacoviello, Licia; Sacerdote, Carlotta; Strauch, Konstantin; Lee, Serene; Thasler, Wolfgang E.; Peters, Annette; Thorand, Barbara; Wolf, Petra; Prokisch, Holger; Tumino, Rosario; Gieger, Christian; Krogh, Vittorio; Panico, Salvatore; Bell, Jordana T.; Matullo, Giuseppe; Waldenberger, Melanie; Grallert, Harald und Koenig, Wolfgang (2016): Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different Tissues.
In: PLOS ONE 11(11), e0166015 [PDF, 1MB]

Klopstock, Thomas; Klopstock, Barbara und Prokisch, Holger (2016): Mitochondrial replacement approaches: challenges for clinical implementation. In: Genome Medicine 8:126 [PDF, 301kB]

Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger und Haack, Tobias B. (2016): Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. In: American Journal of Human Genetics, Bd. 98, Nr. 2: S. 358-362

Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas (2016): Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743

Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix und Prokisch, Holger (2016): NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. In: American Journal of Human Genetics, Bd. 99, Nr. 4: S. 894-902

Franko, Andras; Huypens, Peter; Neschen, Susanne; Irmler, Martin; Rozman, Jan; Rathkolb, Birgit; Neff, Frauke; Prehn, Cornelia; Dubois, Guillaume; Baumann, Martina; Massinger, Rebecca; Gradinger, Daniel; Przemeck, Gerhard K. H.; Repp, Birgit; Aichler, Michaela; Feuchtinger, Annette; Schommers, Philipp; Stöhr, Oliver; Sanchez-Lasheras, Carmen; Adamski, Jerzy; Peter, Andreas; Prokisch, Holger; Beckers, Johannes; Walch, Axel K.; Fuchs, Helmut; Wolf, Eckhard; Schubert, Markus; Wiesner, Rudolf J. und de Angelis, Martin Hrabe (2016): Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice. In: Diabetes, Bd. 65, Nr. 9: S. 2540-2552

Westra, Harm-Jan; Arends, Danny; Esko, Tõnu; Peters, Marjolein J.; Schurmann, Claudia; Schramm, Katharina; Kettunen, Johannes; Yaghootkar, Hanieh; Fairfax, Benjamin P.; Andiappan, Anand Kumar; Li, Yang; Fu, Jingyuan; Karjalainen, Juha; Platteel, Mathieu; Visschedijk, Marijn; Weersma, Rinse K.; Kasela, Silva; Milani, Lili; Tserel, Liina; Peterson, Pärt; Reinmaa, Eva; Hofman, Albert; Uitterlinden, André G.; Rivadeneira, Fernando; Homuth, Georg; Petersmann, Astrid; Lorbeer, Roberto; Prokisch, Holger; Meitinger, Thomas; Herder, Christian; Roden, Michael; Grallert, Harald; Ripatti, Samuli; Perola, Markus; Wood, Andrew R.; Melzer, David; Ferrucci, Luigi; Singleton, Andrew B.; Hernandez, Dena G.; Knight, Julian C.; Melchiotti, Rossella; Lee, Bernett; Poidinger, Michael; Zolezzi, Francesca; Larbi, Anis; Wang, De Yun; Berg, Leonard H. van den; Veldink, Jan H.; Rotzschke, Olaf; Makino, Seiko; Salomaa, Veikko; Strauch, Konstantin; Völker, Uwe; Meurs, Joyce B. J. van; Metspalu, Andres; Wijmenga, Cisca; Jansen, Ritsert C. und Franke, Lude (2015): Cell Specific eQTL Analysis without Sorting Cells.
In: PLOS Genetics 11(5), UNSP e1005223 [PDF, 1MB]

Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A. und Maier, Esther M. (2015): Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 10:40 [PDF, 2MB]

Homuth, Georg; Wahl, Simone; Müller, Christian; Schurmann, Claudia; Mäder, Ulrike; Blankenberg, Stefan; Carstensen, Maren; Dörr, Marcus; Endlich, Karlhans; Englbrecht, Christian; Felix, Stephan B.; Gieger, Christian; Grallert, Harald; Herder, Christian; Illig, Thomas; Kruppa, Jochen; Marzi, Carola S.; Mayerle, Julia; Meitinger, Thomas; Metspalu, Andres; Nauck, Matthias; Peters, Annette; Rathmann, Wolfgang; Reinmaa, Eva; Rettig, Rainer; Roden, Michael; Schillert, Arne; Schramm, Katharina; Steil, Leif; Strauch, Konstantin; Teumer, Alexander; Völzke, Henry; Wallaschofski, Henri; Wild, Philipp S.; Ziegler, Andreas; Völker, Uwe; Prokisch, Holger und Zeller, Tanja (2015): Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts. In: BMC Medical Genomics 8:65 [PDF, 1MB]

Bartel, Jörg; Krumsiek, Jan; Schramm, Katharina; Adamski, Jerzy; Gieger, Christian; Herder, Christian; Carstensen, Maren; Peters, Annette; Rathmann, Wolfgang; Roden, Michael; Strauch, Konstantin; Suhre, Karsten; Kastenmueller, Gabi; Prokisch, Holger und Theis, Fabian J. (2015): The Human Blood Metabolome-Transcriptome Interface.
In: PLOS Genetics 11(6), e1005274 [PDF, 5MB]

Flaquer, Antònia; Rospleszcz, Susanne; Reischl, Eva; Zeilinger, Sonja; Prokisch, Holger; Meitinger, Thomas; Meisinger, Christa; Peters, Annette; Waldenberger, Melanie; Grallert, Harald und Strauch, Konstantin (2015): Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.
In: PLOS ONE 10(5), UNSP e0126294 [PDF, 363kB]

Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas (2015): Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509

Schramm, Katharina; Marzi, Carola; Schurmann, Claudia; Carstensen, Maren; Reinmaa, Eva; Biffar, Reiner; Eckstein, Gertrud; Gieger, Christian; Grabe, Hans-Jörgen; Homuth, Georg; Kastenmueller, Gabriele; Maegi, Reedik; Metspalu, Andres; Mihailov, Evelin; Peters, Annette; Petersmann, Astrid; Roden, Michael; Strauch, Konstantin; Suhre, Karsten ORCID logoORCID: https://orcid.org/0000-0001-9638-3912; Teumer, Alexander; Voelker, Uwe; Voelzke, Henry; Wang-Sattler, Rui; Waldenberger, Melanie; Meitinger, Thomas; Illig, Thomas; Herder, Christian; Grallert, Harald und Prokisch, Holger (2014): Mapping the Genetic Architecture of Gene Regulation in Whole Blood.
In: PLOS ONE 9(4), e93844 [PDF, 1MB]

Becker, Lore; Kling, Eva; Schiller, Evelyn; Zeh, Ramona; Schrewe, Anja; Hölter, Sabine M.; Mossbrugger, Ilona; Calzada-Wack, Julia; Strecker, Valentina; Wittig, Ilka; Dumitru, Iulia; Wenz, Tina; Bender, Andreas; Aichler, Michaela; Janik, Dirk; Neff, Frauke; Walch, Axel; Quintanilla-Fend, Leticia; Floss, Thomas; Bekeredjian, Raffi; Gailus-Durner, Valerie; Fuchs, Helmut; Wurst, Wolfgang; Meitinger, Thomas; Prokisch, Holger; Hrabé de Angelis, Martin und Klopstock, Thomas (2014): MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy.
In: PLOS ONE 9(12), e114918 [PDF, 1MB]

Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W. und Prokisch, Holger (2014): Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. In: Orphanet Journal of Rare Diseases 9:119 [PDF, 2MB]

Hartig, Monika B.; Prokisch, Holger; Meitinger, Thomas und Klopstock, Thomas (1. August 2012): Pantothenate kinase-associated neurodegeneration. In: Current drug targets, Bd. 13, Nr. 9: S. 1182-1189 [PDF, 853kB]

Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas und Prokisch, Holger (April 2012): Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. In: Journal of medical genetics, Bd. 49, Nr. 4: S. 277-283 [PDF, 372kB]

Winkelmann, Juliane; Czamara, Darina; Schormair, Barbara; Knauf, Franziska; Schulte, Eva C.; Trenkwalder, Claudia; Dauvilliers, Yves; Polo, Olli; Hoegl, Birgit; Berger, Klaus; Fuhs, Andrea; Gross, Nadine; Stiasny-Kolster, Karin; Oertel, Wolfgang; Bachmann, Cornelius G.; Paulus, Walter; Xiong, Lan; Montplaisir, Jacques; Rouleau, Guy A.; Fietze, Ingo; Vavrova, Jana; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Lin, Siong-Chi; Wszolek, Zbigniew; Vilarino-Gueell, Carles; Farrer, Matthew J.; Gschliesser, Viola; Frauscher, Birgit; Falkenstetter, Tina; Poewe, Werner; Allen, Richard P.; Earley, Christopher J.; Ondo, William G.; Le, Wei-Dong; Spieler, Derek; Kaffe, Maria; Zimprich, Alexander; Kettunen, Johannes; Perola, Markus; Silander, Kaisa; Cournu-Rebeix, Isabelle; Francavilla, Marcella; Fontenille, Claire; Fontaine, Bertrand; Vodicka, Pavel; Prokisch, Holger; Lichtner, Peter; Peppard, Paul; Faraco, Juliette; Mignot, Emmanuel; Gieger, Christian; Illig, Thomas; Wichmann, Heinz-Erich; Mueller-Myhsok, Bertram und Meitinger, Thomas (Juli 2011): Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1.
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]

Nalls, Michael A.; Couper, David J.; Tanaka, Toshiko; van Rooij, Frank J. A.; Chen, Ming-Huei; Smith, Albert V.; Toniolo, Daniela; Zakai, Neil A.; Yang, Qiong; Greinacher, Andreas; Wood, Andrew R.; Garcia, Melissa; Gasparini, Paolo; Liu, Yongmei; Lumley, Thomas; Folsom, Aaron R.; Reiner, Alex P.; Gieger, Christian; Lagou, Vasiliki; Felix, Janine F.; Voelzke, Henry; Gouskova, Natalia A.; Biffi, Alessandro; Doering, Angela; Voelker, Uwe; Chong, Sean; Wiggins, Kerri L.; Rendon, Augusto; Dehghan, Abbas; Moore, Matt; Taylor, Kent; Wilson, James G.; Lettre, Guillaume; Hofman, Albert; Bis, Joshua C.; Pirastu, Nicola; Fox, Caroline S.; Meisinger, Christa; Sambrook, Jennifer; Arepalli, Sampath; Nauck, Matthias; Prokisch, Holger; Stephens, Jonathan; Glazer, Nicole L.; Cupples, L. Adrienne; Okada, Yukinori; Takahashi, Atsushi; Kamatani, Yoichiro; Matsuda, Koichi; Tsunoda, Tatsuhiko; Tanaka, Toshihiro; Kubo, Michiaki; Nakamura, Yusuke; Yamamoto, Kazuhiko; Kamatani, Naoyuki; Stumvoll, Michael; Toenjes, Anke; Prokopenko, Inga; Illig, Thomas; Patel, Kushang V.; Garner, Stephen F.; Kuhnel, Brigitte; Mangino, Massimo; Oostra, Ben A.; Thein, Swee Lay; Coresh, Josef; Wichmann, Heinz-Erich; Menzel, Stephan; Lin, JingPing; Pistis, Giorgio; Uitterlinden, Andre G.; Spector, Tim D.; Teumer, Alexander; Eiriksdottir, Gudny; Gudnason, Vilmundur; Bandinelli, Stefania; Frayling, Timothy M.; Chakravarti, Aravinda; van Duijn, Cornelia M.; Melzer, David; Ouwehand, Willem H.; Levy, Daniel; Boerwinkle, Eric; Singleton, Andrew B.; Hernandez, Dena G.; Longo, Dan L.; Soranzo, Nicole; Witteman, Jacqueline C. M.; Psaty, Bruce M.; Ferrucci, Luigi; Harris, Tamara B.; O'Donnell, Christopher J. und Ganesh, Santhi K. (Juni 2011): Multiple Loci Are Associated with White Blood Cell Phenotypes.
In: PLOS Genetics 7(6), e1002113 [PDF, 534kB]

Elstner, Matthias; Mueller, Sarina K.; Leidolt, Lars; Laub, Christoph; Krieg, Lena; Schlaudraff, Falk; Liss, Birgit; Morris, Chris; Turnbull, Douglass M.; Masliah, Eliezer; Prokisch, Holger; Klopstock, Thomas und Bender, Andreas (2011): Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions. In: Molecular Brain 4:43 [PDF, 5MB]

Marzi, Carola; Albrecht, Eva; Hysi, Pirro G.; Lagou, Vasiliki; Waldenberger, Melanie; Toenjes, Anke; Prokopenko, Inga; Heim, Katharina; Blackburn, Hannah; Ried, Janina S.; Kleber, Marcus E.; Mangino, Massimo; Thorand, Barbara; Peters, Annette; Hammond, Christopher J.; Grallert, Harald; Boehm, Bernhard O.; Kovacs, Peter; Geistlinger, Ludwig; Prokisch, Holger; Winkelmann, Bernhard R.; Spector, Tim D.; Wichmann, Heinz-Erich; Stumvoll, Michael; Soranzo, Nicole; Maerz, Winfried; Koenig, Wolfgang; Illig, Thomas und Gieger, Christian (November 2010): Genome-Wide Association Study Identifies Two Novel Regions at 11p15.5-p13 and 1p31 with Major Impact on Acute-Phase Serum Amyloid A.
In: PLOS Genetics 6(11), e1001213 [PDF, 446kB]

Kolz, Melanie; Johnson, Toby; Sanna, Serena; Teumer, Alexander; Vitart, Veronique; Perola, Markus; Mangino, Massimo; Albrecht, Eva; Wallace, Chris; Farrall, Martin; Johansson, Asa; Nyholt, Dale R.; Aulchenko, Yurii; Beckmann, Jacques S.; Bergmann, Sven; Bochud, Murielle; Brown, Morris; Campbell, Harry; Connell, John; Dominiczak, Anna; Homuth, Georg; Lamina, Claudia; McCarthy, Mark I.; Meitinger, Thomas; Mooser, Vincent; Munroe, Patricia; Nauck, Matthias; Peden, John; Prokisch, Holger; Salo, Perttu; Salomaa, Veikko; Samani, Nilesh J.; Schlessinger, David; Uda, Manuela; Voelker, Uwe; Waeber, Gerard; Waterworth, Dawn; Wang-Sattler, Rui; Wright, Alan F.; Adamski, Jerzy; Whitfield, John B.; Gyllensten, Ulf; Wilson, James F.; Rudan, Igor; Pramstaller, Peter; Watkins, Hugh; Doering, Angela; Wichmann, Heinz-Erich; Spector, Tim D.; Peltonen, Leena; Voelzke, Henry; Nagaraja, Ramaiah; Vollenweider, Peter; Caulfield, Mark; Illig, Thomas und Gieger, Christian (Juni 2009): Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations.
In: PLOS Genetics 5(6), e1000504 [PDF, 503kB]

Weidinger, Stephan; Gieger, Christian; Rodriguez, Elke; Baurecht, Hansjoerg; Mempel, Martin; Klopp, Norman; Gohlke, Henning; Wagenpfeil, Stefan; Ollert, Markus; Ring, Johannes; Behrendt, Heidrun; Heinrich, Joachim; Novak, Natalija; Bieber, Thomas; Kraemer, Ursula; Berdel, Dietrich; Berg, Andrea von; Bauer, Carl Peter; Herbarth, Olf; Koletzko, Sibylle; Prokisch, Holger; Mehta, Divya; Meitinger, Thomas; Depner, Martin; Mutius, Erika von; Liang, Liming; Moffatt, Miriam; Cookson, William; Kabesch, Michael; Wichmann, Heinz-Erich und Illig, Thomas (August 2008): Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus.
In: PLOS Genetics 4(8), e1000166 [PDF, 256kB]

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