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Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT. Kraft M, et al. Among authors: trautmann u. J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1. J Clin Invest. 2011. PMID: 21804188 Free PMC article.
A novel 5q35.3 subtelomeric deletion syndrome.
Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Among authors: trautmann u. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: trautmann u. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Thiel CT, et al. Among authors: trautmann u. Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18434272
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Hauer NN, et al. Among authors: trautmann u. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6. Sci Rep. 2017. PMID: 28939912 Free PMC article.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: trautmann u. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.
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