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Anzahl der Publikationen: 3
Zeitschriftenartikel
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
Wang, Huijun; Humbatova, Aytaj; Liu, Yuanxiang; Qin, Wen; Lee, Mingyang; Cesarato, Nicole; Kortuem, Fanny; Kumar, Sheetal; Romano, Maria Teresa; Dai, Shangzhi; Mo, Ran; Sivalingam, Sugirthan; Motameny, Susanne; Wu, Yuan; Wang, Xiaopeng; Niu, Xinwu; Geng, Songmei; Bornholdt, Dorothea; Kroisel, Peter M.; Tadini, Gianluca; Walter, Scott D.; Hauck, Fabian; Girisha, Katta M.; Calza, Anne-Marie; Bottani, Armand; Altmueller, Janine; Buness, Andreas; Yang, Shuxia; Sun, Xiujuan; Ma, Lin; Kutsche, Kerstin; Grzeschik, Karl-Heinz; Betz, Regina C. und Lin, Zhimiao
(2020):
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
In: American Journal of Human Genetics, Bd. 107, Nr. 1: S. 34-45
Khan, Arif O.; Becirovic, Elvir; Betz, Christian; Neuhaus, Christine; Altmüller, Janine; Riedmayr, Lisa Maria; Motameny, Susanne; Nürnberg, Gudrun; Nürnberg, Peter und Bolz, Hanno J.
(2017):
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
In: Scientific Reports, Bd. 7, 1411
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