PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study by Gonsior, Kathrin, Kaucher, Gabriele Anna, Pelz, Patrik, Schumann, Dorothea, Gansel, Melanie, Kuhs, Sandra, Klockgether, Thomas, Forlani, Sylvie, Durr, Alexandra, Hauser, Stefan, Rattay, Tim W., Synofzik, Matthis, Hengel, Holger, Schöls, Ludger, Rieß, Olaf H., Hübener-Schmid, Jeannette

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Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches by Roggia, Cristiana, Armeanu-Ebinger, Sorin, Gschwind, Axel, Seibel-Kelemen, Olga, Hertler, Sonja, Faust, Ulrike, Liebmann, Alexandra, Haack, Tobias B., Neumann, Manuela, Bonzheim, Irina, Forschner, Andrea, Kopp, Hans-Georg, Herster, Franziska, Hartkopf, Andreas, Bitzer, Michael, Malek, Nisar P., Brecht, Ines B., Ruhm, Kristina, Möller, Yvonne, Löwenheim, Hubert, Ossowski, Stephan, Rieß, Olaf H., Schroeder, Christopher

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Thermal Ablation of Colorectal Cancer Metastases Leads to Activation of Individual Cancer-Specific T Cell Immunity by Haen, Sebastian, Nussbaum, Bianca, Kowalewski, Daniel Johannes, Jaeger, Guenter, Pereira, Philippe, Clasen, Stephan, Sipos, Bence, Koenigsrainer, Ingmar, Beckert, Stefan, Wagner, Silvia, Riess, Olaf H., Koenigsrainer, Alfred, Stevanovic, Stefan, Kanz, Lothar, Rammensee, Hans-Georg, Loeffler, Markus W., Gouttefangeas, Cecile

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Radiofrequency Ablation of Liver Metastases from Colorectal Cancer Induces a Cancer-Specific T Cell Repertoire in Humans by Loeffler, Markus W., Nussbaum, Bianca, Jurmeister, Philipp S., Budczies, Jan, Kowalewski, Daniel Johannes, Clasen, Stephan, Koenigsrainer, Ingmar, Beckert, Stefan, Wagner, Silvia, Sipos, Bence, Bullinger, Florian, Riess, Olaf H., Pereira, Philippe, Koenigsrainer, Alfred, Kanz, Lothar, Stevanovic, Stefan, Denkert, Carsten, Rammensee, Hans-Georg, Gouttefangeas, Cecile, Haen, Sebastian

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Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history by Engel, Christoph, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E, Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R, Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H F, Engel, Jutta, Schmutzler, Rita K

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Recommendations for whole genome sequencing in diagnostics for rare diseases by Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M

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Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19 by Bernardes, Joana P., Tran, Florian, Best, Lena, Bordoni, Dora, Josephs-Spaulding, Jonathan, Köhler, Philipp, Künstner, Axel, Rosati, Elisa, Bacher, Petra, Bruse, Niklas, Franzenburg, Sören, Frey, Norbert, Fuß, Janina, Glück, Andreas, Hamm, Jacob, Imm, Simon, Kaiser, Sina, Lange, Christoph, Laue, Georg, Marinos, Georgios, Pickkers, Peter, Rabe, Klaus F., Renz, Alina, Röcken, Christoph, Rupp, Jan, Schaffarzyk, Annika, Scheffold, Alexander, Schulte-Schrepping, Jonas, Skowasch, Dirk, Ulas, Thomas, Wandinger, Klaus-Peter, Wittig, Michael, Zimmermann, Johannes, Busch, Hauke, Hoyer, Bimba F., Kaleta, Christoph, Heyckendorf, Jan, Rybniker, Jan, Schultze, Joachim L., Rosenstiel, Philip, Banovich, Nicholas E., Desai, Tushar, Eickelberg, Oliver, Haniffa, Muzlifa, Horvath, Peter, Kropski, Jonathan A., Lafyatis, Robert, Meyer, Kerstin, Nawijn, Martijn C., Nikolic, Marko, Ordovas Montanes, Jose, Pe’er, Dana, Tata, Purushothama Rao, Rawlins, Emma, Regev, Aviv, Reyfman, Paul, Samakovlis, Christos, Schultze, Joachim, Shalek, Alex, Shepherd, Douglas, Spence, Jason, Theis, Fabian, van den Berge, Maarten, von Papen, Michael, Whitsett, Jeffrey, Angelov, Angel, Bals, Robert, Bonifacio, Ezio, Colme-Tatche, Maria, Diefenbach, Andreas, Dilthey, Alexander, Fischer, Nicole, Gagneur, Julien, Goesmann, Alexander, Kallies, René, Kehr, Birte, Keller, Andreas, Kim-Hellmuth, Sarah, Korbel, Jan O., Kurth, Ingo, Landthaler, Markus, Li, Yang, Ludwig, Kerstin, Makarewicz, Oliwia, Nöthen, Markus, Nürnberg, Peter, Ohler, Uwe, Overmann, Jörg, Peter, Silke, Pfeffer, Klaus, Poetsch, Anna R., Rajewsky, Niklaus, Ralser, Markus, Saliba, Antoine-Emmanuel, Schulte, Eva-Christina, Sczyrba, Alexander, Stegle, Oliver, Stoye, Jens, von Kleist, Max, Walker, Andreas

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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease by Strauss, Karsten M., Martins, L. Miguel, Plun-Favreau, Helene, Marx, Frank P., Kautzmann, Sabine, Berg, Daniela, Gasser, Thomas, Wszolek, Zbginiew, Müller, Thomas, Bornemann, Antje, Wolburg, Hartwig, Downward, Julian, Riess, Olaf, Schulz, Jörg B., Krüger, Rejko

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Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology by Ripperger, Tim, Bielack, Stefan S., Borkhardt, Arndt, Brecht, Ines B., Burkhardt, Birgit, Calaminus, Gabriele, Debatin, Klaus‐Michael, Deubzer, Hedwig, Dirksen, Uta, Eckert, Cornelia, Eggert, Angelika, Erlacher, Miriam, Fleischhack, Gudrun, Frühwald, Michael C., Gnekow, Astrid, Goehring, Gudrun, Graf, Norbert, Hanenberg, Helmut, Hauer, Julia, Hero, Barbara, Hettmer, Simone, von Hoff, Katja, Horstmann, Martin, Hoyer, Juliane, Illig, Thomas, Kaatsch, Peter, Kappler, Roland, Kerl, Kornelius, Klingebiel, Thomas, Kontny, Udo, Kordes, Uwe, Körholz, Dieter, Koscielniak, Ewa, Kramm, Christof M., Kuhlen, Michaela, Kulozik, Andreas E., Lamottke, Britta, Leuschner, Ivo, Lohmann, Dietmar R., Meinhardt, Andrea, Metzler, Markus, Meyer, Lüder H., Moser, Olga, Nathrath, Michaela, Niemeyer, Charlotte M., Nustede, Rainer, Pajtler, Kristian W., Paret, Claudia, Rasche, Mareike, Reinhardt, Dirk, Rieß, Olaf, Russo, Alexandra, Rutkowski, Stefan, Schlegelberger, Brigitte, Schneider, Dominik, Schneppenheim, Reinhard, Schrappe, Martin, Schroeder, Christopher, von Schweinitz, Dietrich, Simon, Thorsten, Sparber‐Sauer, Monika, Spix, Claudia, Stanulla, Martin, Steinemann, Doris, Strahm, Brigitte, Temming, Petra, Thomay, Kathrin, von Bueren, Andre O., Vorwerk, Peter, Witt, Olaf, Wlodarski, Marcin, Wössmann, Willy, Zenker, Martin, Zimmermann, Stefanie, Pfister, Stefan M., Kratz, Christian P.

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Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease by Singh, Yogesh, Trautwein, Christoph, Romani, Joan, Salker, Madhuri S, Neckel, Peter H, Fraccaroli, Isabel, Abeditashi, Mahkameh, Woerner, Nils, Admard, Jakob, Dhariwal, Achal, Dueholm, Morten K D, Schäfer, Karl-Herbert, Lang, Florian, Otzen, Daniel E, Lashuel, Hilal A, Riess, Olaf, Casadei, Nicolas

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) by Rolfs, Arndt, Koeppen, Arnulf H., Bauer, Ingrid, Bauer, Peter, Buhlmann, Sven, Topka, Helge, Schöls, Ludger, Riess, Olaf

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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3) by Hübener, Jeannette, Weber, Jonasz Jeremiasz, Richter, Claudia, Honold, Lisa, Weiss, Andreas, Murad, Fabronia, Breuer, Peter, Wüllner, Ullrich, Bellstedt, Peter, Paquet-Durand, Francois, Takano, Jiro, Saido, Takaomi C, Riess, Olaf, Nguyen, Huu Phuc

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Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3 by Chandrasekaran, Jayashree, Petit, Emilien, Park, Young Woo, Montcel, Sophie Tezenas, Joers, James M., Deelchand, Dinesh K., Považan, Michal, Banan, Guita, Valabregue, Romain, Ehses, Philipp, Faber, Jennifer, Coupé, Pierrick, Onyike, Chiadi U., Barker, Peter B., Schmahmann, Jeremy D., Ratai, Eva‐Maria, Subramony, S. H., Mareci, Thomas H., Bushara, Khalaf O., Paulson, Henry, Durr, Alexandra, Klockgether, Thomas, Ashizawa, Tetsuo, Lenglet, Christophe, Öz, Gülin, Rosenthal, Liana, Burns, Matthew, Grobe‐Einsler, Marcus, Oender, Demet, Kimmich, Okka, Roy, Nina, Ewenczyk, Claire, Heinzmann, Anna, Lallemant, Pauline, Heide, Solveig, Charles, Perrine, Coarelli, Giulia, Cunha, Paulina, Sayah, Sabrina, Wilmot, George, Scorr, Laura, Opal, Puneet, Sha, Sharon, Santini, Veronica, Sampson, Jacinda, Perlman, Susan, Geschwind, Michael, Nelson, Alexandra, Dietiker, Cameron, Gomez, Christopher, Hawkins, Trevor, Morrison, Peter

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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption by Cornelis, M C, Byrne, E M, Esko, T, Nalls, M A, Paynter, N, Monda, K L, Amin, N, Renstrom, F, Cavadino, A, Nolte, I M, Teumer, A, Yu, K, Manichaikul, A, Wojczynski, M K, Vink, J M, Zhao, J H, Burlutsky, G, Lahti, J, Lemaitre, R N, Eriksson, J, Musani, S K, Tanaka, T, Luan, J, Hui, J, Ho, W-K, Magnusson, P K E, Pedersen, N L, Couper, D, Oostra, B A, Tiemeier, H W, Uitterlinden, A G, Barroso, I, Xue, L, Kaakinen, M, Milani, L, Power, C, Baumeister, S E, Biffar, R, Kutalik, Z, Jacobs, D R, Lind, L, Jensen, M, Luben, R N, Wang, J J, Männistö, S, Lehtimäki, T, Viikari, J, Mozaffarian, D, Mukamal, K, Döring, A, Montgomery, G W, Dahmen, N, Tucker, K L, Ferrucci, L, Treur, J L, Mellström, D, Hottenga, J J, Tönjes, A, Deloukas, P, Kanoni, S, Lorentzon, M, Houston, D K, Liu, Y, Mason, M A, Zonderman, A B, Franke, L, Kristal, B S, Karjalainen, J, Reed, D R, Westra, H-J, Evans, M K, Dedoussis, G, Stumvoll, M, Bandinelli, S, Ordovas, J M, Chan, A T, Ohlsson, C, Gieger, C, Martin, N G, Siscovick, D S, Raitakari, O, Eriksson, J G, Mitchell, P, Hunter, D J, Rimm, E B, Borecki, I B, Vollenweider, P, Grabe, H J, Neuhouser, M L, Wolffenbuttel, B H R, Hyppönen, E, Cupples, L A, Franks, P W, van Duijn, C M, Heiss, G, Metspalu, A, North, K E, Ingelsson, E, Nettleton, J A, van Dam, R M

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Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition by Siebzehnrübl, Florian A., Raber, Kerstin A., Urbach, Yvonne K., Schulze-Krebs, Anja, Canneva, Fabio, Moceri, Sandra, Habermeyer, Johanna, Achoui, Dalila, Gupta, Bhavana, Steindler, Dennis A., Stephan, Michael, Nguyen, Huu Phuc, Bonin, Michael, Riess, Olaf, Bauer, Andreas, Aigner, Ludwig, Couillard-Despres, Sebastien, Paucar, Martin Arce, Svenningsson, Per, Osmand, Alexander, Andreew, Alexander, Zabel, Claus, Weiss, Andreas, Kuhn, Rainer, Moussaoui, Saliha, Blockx, Ines, Van der Linden, Annemie, Cheong, Rachel Y., Roybon, Laurent, Petersén, Åsa, von Hörsten, Stephan

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The cellular and molecular basis of hyperthermia by Hildebrandt, Bert, Wust, Peter, Ahlers, Olaf, Dieing, Annette, Sreenivasa, Geetha, Kerner, Thoralf, Felix, Roland, Riess, Hanno

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Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia by Rezende, Thiago J.R., Petit, Emilien, Park, Young Woo, Tezenas du Montcel, Sophie, Joers, James M., DuBois, Jonathan M., Moore Arnold, H., Povazan, Michal, Banan, Guita, Valabregue, Romain, Ehses, Philipp, Faber, Jennifer, Coupé, Pierrick, Onyike, Chiadi U., Barker, Peter B., Schmahmann, Jeremy D., Ratai, Eva‐Maria, Subramony, Sub H., Mareci, Thomas H., Bushara, Khalaf O., Paulson, Henry, Klockgether, Thomas, Durr, Alexandra, Ashizawa, Tetsuo, Lenglet, Christophe, Öz, Gülin, Rosenthal, Liana, Burns, Matthew, Grobe‐Einsler, Marcus, Oender, Demet, Koyak, Berkan, Kimmich, Okka, Roy, Nina, Coarelli, Giulia, Ewenczyk, Claire, Heinzmann, Anna, Lallemant, Pauline, Hurmic, Hortense, Wilmot, George, Scorr, Laura, Opal, Puneet, Sha, Sharon, Santini, Veronica, Sampson, Jacinda, Perlman, Susan, Geschwind, Michael, Nelson, Alexandra, Dietiker, Cameron, Gomez, Christopher, Shakkottai, Vikram, Kuo, Sheng‐Han, Hawkins, Trevor, Morrison, Peter, Pulst, Stefan M., Figueroa, Karla P., Fauret‐Amsellem, Anne‐Laure, Forlani, Sylvie, Riess, Olaf

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Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease by Weber, Jonasz J, Haas, Eva, Maringer, Yacine, Hauser, Stefan, Casadei, Nicolas L P, Chishti, Athar H, Riess, Olaf, Hübener-Schmid, Jeannette

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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes by DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina

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Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women by Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana, Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H F, Engel, Christoph, Lemke, Johannes R, Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf, Schroeder, Christopher

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