Ausgewählte Publikationen
- Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel C (2013). Rare copy number variants are a common cause of short stature.
PLoS Genet. [Epub ahead of print] MEDLINE - Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet 26: 1674-1682. MEDLINE - Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B. (2012) Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Genet Med. 15(3):195-202. MEDLINE - Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dorr HG, Rauch A, Thiel CT (2011) Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
Eur J Med Genet 54:521-4. MEDLINE - 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, Dorr HG, Rauch A, Thiel CT (2011) Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
J Clin Invest 121:3479-91. MEDLINE - Schick B, Wemmert S, Willnecker V, Dlugaiczyk J, Nicolai P, Siwiec H, Thiel CT, Rauch A, Wendler O (2011) Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma.
Int J Oncol 39:1143-51. MEDLINE - Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT (2011) The smallest teeth in the world are caused by mutations in the PCNT gene.
Am J Med Genet A 155A:1398-403. MEDLINE - Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Am J Hum Genet 88:106-14. MEDLINE - Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A (2010) Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Mol Syndromol 1:99-112. MEDLINE - Gohring I, Tagariello A, Endele S, Stolt CC, Ghassibe M, Fisher M, Thiel CT, Trautmann U, Vikkula M, Winterpacht A, FitzPatrick DR, Rauch A (2010) Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.
J Med Genet 47:91-8. MEDLINE
