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Dubacher, Nicolo; Münger, Justyna; Gorosabel, Maria C; Crabb, Jessica; Ksiazek, Agnieszka A; Caspar, Sylvan M; Bakker, Erik N T P; van Bavel, Ed; Ziegler, Urs; Carrel, Thierry; Steinmann, Beat; Zeisberger, Steffen; Meienberg, Janine; Matyas, Gabor (2020). Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers–Danlos syndrome. Cardiovascular research, 116(2), pp. 457-465. Oxford University Press 10.1093/cvr/cvz095
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
Schönhoff, Florian; Jungi, Silvan; Czerny, Martin; Roost, Eva; Reineke, David Christian; Matyas, Gabor; Steinmann, Beat; Schmidli, Juerg; Kadner, Alexander; Carrel, Thierry (2013). Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation, 127(15), pp. 1569-75. Baltimore, Md.: Lippincott Williams & Wilkins 10.1161/CIRCULATIONAHA.113.001457
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
Magyar, István; Colman, Dvora; Arnold, Eliane; Baumgartner, Daniela; Bottani, Armand; Fokstuen, Siv; Addor, Marie-Claude; Berger, Wolfgang; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human mutation, 30(9), pp. 1355-64. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21058
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
Mátyás, Gábor; Arnold, Eliane; Carrel, Thierry; Baumgartner, Daniela; Boileau, Catherine; Berger, Wolfgang; Steinmann, Beat (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human mutation, 27(8), pp. 760-9. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20353
Landolt, Markus A.; Nuoffer, Jean-Marc; Steinmann, Beat; Superti-Furga, Andrea (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. Journal of pediatrics, 140(5), pp. 516-521. Elsevier 10.1067/mpd.2002.123663
Immer, Franz; Marti, Philippe; Carrel, Thierry; Steinmann, Beat (2008). Lebensqualität herzoperierter und nicht herzoperierter Marfan-Patienten in der Schweiz. In: Herzsache (pp. 33-41). Bern: Marfan Stiftung Schweiz
