Publications
Selected publications
► |
Dubacher N, Sugiyama K, Smith JD, Nussbaumer V, Csonka M, Ferenczi S, Kovacs KJ, Caspar SM, Lamberti L, Meienberg J, Yanagisawa H, Sheppard MB, Matyas G (2023) Novel insights into the aortic mechanical properties of mice modeling hereditary aortic diseases. bioRxiv 2023.08.15.553452 (Preprint doi: 10.1101/2023.08.15.553452). |
► |
Caspar SM, Schneider T, Stoll P, Meienberg J, Matyas G (2021) Potential of whole-genome sequencing-based pharmacogenetic profiling. Pharmacogenomics 22:177-190 [Invited article]. |
► |
Caspar SM, Schneider T, Meienberg J, Matyas G (2020) Added value of clinical sequencing: WGS-based profiling of pharmacogenes. Int J Mol Sci 21:2308. |
► |
Gorosabel MC, Dubacher N, Meienberg J, Matyas G (2020) Vascular Ehlers-Danlos syndrome: Can the beneficial effect of celiprolol be extrapolated to bisoprolol? Eur Heart J Cardiovasc Pharmacother 6:199-200 (Epub 2019). |
► |
Najafi A, Caspar SM, Meienberg J, Rohrbach M, Steinmann B, Matyas G (2020) Variant filtering, digenic variants, and other challenges in clinical sequencing: A lesson from fibrillinopathies. Clin Genet 97:235-245 (Epub 2019) [Front cover, editor's choice, and top-downloaded article]. |
► |
Dubacher N, Münger J, Gorosabel MC, Crabb J, Ksiazek AA, Caspar SM, Bakker E NTP, van Bavel E, Ziegler U, Carrel T, Steinmann B, Zeisberger S, Meienberg J, Matyas G (2020) Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. Cardiovasc Res 116:457-465 (Epub 2019). |
► |
Caspar SM, Dubacher N, Matyas G (2019) More genes for thoracic aortic aneurysms and dissections. J Am Coll Cardiol 73:528-529. |
► |
Steinmann B, Rohrbach M, Matyas G (2019) Hereditäre Bindegewebskrankheiten bei Kindern und Jugendlichen, pp 1-25. In: Hoffman G, Lentze M, Spranger J, Zepp F, Berner R (Hrsg.): Pädiatrie. Springer, Berlin, Heidelberg, https://doi.org/10.1007/978-3-642-54671-6_296-2. |
► |
Caspar SM, Dubacher N, Kopps AM, Meienberg J, Henggeler C, Matyas G (2018) Clinical sequencing: from raw data to diagnosis with lifetime value. Clin Genet 93:508-519 [Invited review and top-cited article]. |
► |
Plüss M, Kopps AM, Keller I, Meienberg J, Caspar SM, Dubacher N, Bruggmann R, Vogel M, Matyas G (2017) Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac. Proc Natl Acad Sci U S A 114:E8320-E8322. |
► |
Caspar S, Meienberg J, Matyas G (2017) RE: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections. Clin Genet 91:501. |
► |
Meienberg J, Bruggmann R, Oexle K, Matyas G (2016) Clinical Sequencing: Is WGS the better WES? Hum Genet 135:359-362 [Editor's choice, highly cited article]. |
► |
Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G (2015) New insights into the performance of human whole-exome capture platforms. Nucl Acids Res 43:e76. |
► |
Matyas G, Naef P, Tollens M, Oexle K (2014) De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. Am J Med Genet Part A 164A:2141-2143. |
► |
Attenhofer Jost CH, Greutmann M, Connolly HM, Weber R, Rohrbach M, Oxenius A, Kretschmar O, Lüscher TF, Matyas G (2014) Medical treatment of aortic aneurysms in Marfan syndrome and other heritable conditions. Curr Cardiol Rev 10:161-171. |
► |
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AOH, Carrel T, Steinmann B, Matyas G (2010) Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: A lesson for and from true haploinsufficiency. Eur J Hum Genet 18: 1315-1321. |
► |
Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor M-C, Berger W, Carrel T, Steinmann B, Matyas G (2009) Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat 30:1355-1364. |
► |
Matyas G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W (2007) Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet 122:23-32. |
► |
Matyas G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 27:760-769. |
» Press review of our Foundation for People with Rare Diseases