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Chen, Chaoran; Nadeau, Sarah Ann; Topolsky, Ivan; Manceau, Marc; Huisman, Jana S; Jablonski, Kim Philipp; Fuhrmann, Lara; Dreifuss, David; Jahn, Katharina; Beckmann, Christiane; Redondo, Maurice; Noppen, Christoph; Risch, Lorenz; Risch, Martin; Wohlwend, Nadia; Kas, Sinem; Bodmer, Thomas; Roloff, Tim; Stange, Madlen; Egli, Adrian; ... (2021). Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland. Epidemics, 37, p. 100480. Elsevier 10.1016/j.epidem.2021.100480
Meienberg, Janine; Zerjavic, Katja; Keller, Irene; Okoniewski, Michal; Patrignani, Andrea; Ludin, Katja; Xu, Zhenyu; Steinmann, Beat; Carrel, Thierry; Röthlisberger, Benno; Schlapbach, Ralph; Bruggmann, Rémy; Matyas, Gabor (2015). New insights into the performance of human whole-exome capture platforms. Nucleic acids research, 43(11), e76. Oxford University Press 10.1093/nar/gkv216
Greminger, Maja P; Stölting, Kai N; Nater, Alexander; Goossens, Benoit; Arora, Natasha; Bruggmann, Rémy; Patrignani, Andrea; Nussberger, Beatrice; Sharma, Reeta; Kraus, Robert H S; Ambu, Laurentius N; Singleton, Ian; Chikhi, Lounes; van Schaik, Carel P; Krützen, Michael (2014). Generation of SNP datasets for orangutan population genomics using improved reduced-representation sequencing and direct comparisons of SNP calling algorithms. BMC Genomics, 15(16), p. 16. BioMed Central 10.1186/1471-2164-15-16
Biason-Lauber, Anna; Böni-Schnetzler, Marianne; Hubbard, Basil P.; Bouzakri, Karim; Brunner, Andrea; Cavelti-Weder, Claudia; Keller, Cornelia; Meyer-Böni, Monika; Meier, Daniel T.; Brorsson, Caroline; Timper, Katharina; Leibowitz, Gil; Patrignani, Andrea; Bruggmann, Rémy; Boily, Gino; Zulewski, Henryk; Geier, Andreas; Cermak, Jennifer M; Elliott, Peter; Ellis, James L.; ... (2013). Identification of a SIRT1 mutation in a family with type 1 diabetes. Cell metabolism, 17(3), pp. 448-455. Cell Press 10.1016/j.cmet.2013.02.001
Testoni, Stefania; Bartolone, Elena; Rossi, Marco; Patrignani, Andrea; Bruggmann, Rémy; Lichtner, Peter; Tetens, Jens; Gentile, Arcangelo; Drögemüller, Cord (2012). KDM2B is implicated in bovine lethal multi-organic developmental dysplasia. PLoS ONE, 7(9), e45634. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0045634
Meienberg, Janine; Rohrbach, Marianne; Neuenschwander, Stefan; Spanaus, Katharina; Giunta, Cecilia; Alonso, Sira; Arnold, Eliane; Henggeler, Caroline; Regenass, Stephan; Patrignani, Andrea; Azzarello-Burri, Silvia; Steiner, Bernhard; Nygren, Anders O H; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European journal of human genetics, 18(12), pp. 1315-21. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2010.105
Mátyás, Gábor; Alonso, Sira; Patrignani, Andrea; Marti, Myriam; Arnold, Eliane; Magyar, István; Henggeler, Caroline; Carrel, Thierry; Steinmann, Beat; Berger, Wolfgang (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human genetics, 122(1), pp. 23-32. Berlin: Springer 10.1007/s00439-007-0371-x
