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Anzahl der Publikationen: 5
Zeitschriftenartikel
Figueroa, Karla P.; Gross, Caspar 
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
Mack, Matthias; Broche, Julian; George, Stephen; Hajjari, Zahra; Janke, Florian; Ranganathan, Lavanya; Ashouri, Mohammadreza; Bleul, Sabine; Desuki, Alexander; Engels, Cecilia; Fliedner, Stephanie M. J.; Hartmann, Nils; Hummel, Michael; Janning, Melanie; Kiel, Alexander; Koehler, Thomas; Koschade, Sebastian; Lablans, Martin; Lambarki, Mohamed; Loges, Sonja; Lueong, Smiths; Meyer, Sandra; Ossowski, Stephan; Scherer, Florian; Schroeder, Christopher; Skowronek, Patrick; Thiede, Christian; Uhl, Barbara; Vehreschild, Jörg Janne; Bubnoff, Nikolas von; Wagner, Sebastian; Werner, Tamara V.; Westphalen, C. Benedikt; Fresser, Patrizia; Sueltmann, Holger; Tinhofer, Ingeborg und Winter, Christof
(2022):
The DKTK EXLIQUID consortium exploiting liquid biopsies to advance cancer precision medicine for molecular tumor board patients.
In: Journal of Laboratory Medicine, Bd. 46, Nr. 4: S. 321-330
Butler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A.; Cirulli, Elizabeth T.; Drivas, Theodore; Furini, Simone; Saad, Chadi; Schmidt, Axel; Olszewski, Pawel; Korotko, Urszula; Quinodoz, Mathieu; Celik, Elifnaz; Kundu, Kousik; Walter, Klaudia; Jung, Junghyun; Stockwell, Amy D.; Sloofman, Laura G.; Jordan, Daniel M.; Thompson, Ryan C.; Del Valle, Diane; Simons, Nicole; Cheng, Esther; Sebra, Robert; Schadt, Eric E.; Kim-Schulze, Seunghee; Gnjatic, Sacha; Merad, Miriam; Buxbaum, Joseph D.; Beckmann, Noam D.; Charney, Alexander W.; Przychodzen, Bartlomiej; Chang, Timothy; Pottinger, Tess D.; Shang, Ning; Brand, Fabian; Fava, Francesca; Mari, Francesca; Chwialkowska, Karolina; Niemira, Magdalena; Pula, Szymon; Baillie, J. Kenneth; Stuckey, Alex; Salas, Antonio; Bello, Xabier; Pardo-Seco, Jacobo; Gomez-Carballa, Alberto; Rivero-Calle, Irene; Martinon-Torres, Federico; Ganna, Andrea; Karczewski, Konrad J.; Veerapen, Kumar; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert Jm; Forgetta, Vincenzo; Morrison, David; Langlais, David; Lathrop, Mark; Mooser, Vincent; Nakanishi, Tomoko; Frithiof, Robert; Hultstrom, Michael; Lipcsey, Miklos; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Barrett, Kelly M. Schiabor; Lee, William; Bolze, Alexandre; White, Simon; Riffle, Stephen; Tanudjaja, Francisco; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Casadei, Nicolas; Motameny, Susanne; Alaamery, Manal; Massadeh, Salam; Aljawini, Nora; Almutairi, Mansour S.; Arabi, Yaseen M.; Alqahtani, Saleh A.; Al Harthi, Fawz S.; Almutairi, Amal; Alqubaishi, Fatima; Alotaibi, Sarah; Binowayn, Albandari; Alsolm, Ebtehal A.; El Bardisy, Hadeel; Fawzy, Mohammad; Cai, Fang; Soranzo, Nicole; Butterworth, Adam; Geschwind, Daniel H.; Arteaga, Stephanie; Stephens, Alexis; Butte, Manish J.; Boutros, Paul C.; Yamaguchi, Takafumi N.; Tao, Shu; Eng, Stefan; Sanders, Timothy; Tung, Paul J.; Broudy, Michael E.; Pan, Yu; Gonzalez, Alfredo; Chavan, Nikhil; Johnson, Ruth; Pasaniuc, Bogdan; Yaspan, Brian; Smieszek, Sandra; Rivolta, Carlo; Bibert, Stephanie; Bochud, Pierre-Yves; Dabrowski, Maciej; Zawadzki, Pawel; Sypniewski, Mateusz; Kaja, Elzbieta; Chariyavilaskul, Pajaree; Nilaratanakul, Voraphoj; Hirankarn, Nattiya; Shotelersuk, Vorasuk; Pongpanich, Monnat; Phokaew, Chureerat; Chetruengchai, Wanna; Tokunaga, Katsushi; Sugiyama, Masaya; Kawai, Yosuke; Hasegawa, Takanori; Naito, Tatsuhiko; Namkoong, Ho; Edahiro, Ryuya; Kimura, Akinori; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Okada, Yukinori; Imoto, Seiya; Miyano, Satoru; Mangul, Serghei; Abedalthagafi, Malak S.; Zeberg, Hugo; Grzymski, Joseph J.; Washington, Nicole L.; Ossowski, Stephan; Ludwig, Kerstin U.; Schulte, Eva C.; Riess, Olaf; Moniuszko, Marcin; Kwasniewski, Miroslaw; Mbarek, Hamdi; Ismail, Said I.; Verma, Anurag; Goldstein, David B.; Kiryluk, Krzysztof; Renieri, Alessandra; Ferreira, Manuel A. R. und Richards, J. Brent
(2022):
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
In: PLOS Genetics 18(11), e1010367
In: PLOS Genetics 18(11), e1010367
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Almouzni, Genevieve; Altucci, Lucia; Amati, Bruno; Ashley, Neil; Baulcombe, David; Beaujean, Nathalie; Bock, Christoph; Bongcam-Rudloff, Erik; Bousquet, Jean; Braun, Sigurd; Bressac-de Paillerets, Brigitte; Bussemakers, Marion; Clarke, Laura; Conesa, Ana; Estivill, Xavier; Fazeli, Alireza; Grgurevic, Neza; Gut, Ivo; Heijmans, Bastiaan T.; Hermouet, Sylvie; Houwing-Duistermaat, Jeanine; Iacobucci, Ilaria; Ilas, Janez; Kandimalla, Raju; Krauss-Etschmann, Susanne; Lasko, Paul; Lehmann, Soeren; Lindroth, Anders; Majdic, Gregor; Marcotte, Eric; Martinelli, Giovanni; Martinet, Nadine; Meyer, Eric; Miceli, Cristina; Mills, Ken; Moreno-Villanueva, Maria; Morvan, Ghislaine; Nickel, Dörthe; Niesler, Beate; Nowacki, Mariusz; Nowak, Jacek; Ossowski, Stephan; Pelizzola, Mattia; Pochet, Roland; Potocnik, Uros; Radwanska, Magdalena; Raes, Jeroen; Rattray, Magnus; Robinson, Mark D.; Roelen, Bernard; Sauer, Sascha; Schinzer, Dieter; Slagboom, Eline; Spector, Tim; Stunnenberg, Hendrik G.; Tiligada, Ekaterini; Torres-Padilla, Maria-Elena; Tsonaka, Roula; Van Soom, Ann; Vidakovic, Melita und Widschwendter, Martin
(2014):
Relationship between genome and epigenome - challenges and requirements for future research.
In: BMC Genomics
15:487
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