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Journal Article
Dikow, Nicola, Maas, Bianca, Gaspar, Harald, Kreiss-Nachtsheim, Martina, Engels, Hartmut, Kuechler, Alma, Garbes, Lutz, Netzer, Christian, Neuhann, Teresa M., Koehler, Udo, Casteels, Kristina, Devriendt, Koen, Janssen, Johannes W. G., Jauch, Anna, Hinderhofer, Katrin and Moog, Ute (2013). The Phenotypic Spectrum of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really a Reversed Sotos Syndrome? Am. J. Med. Genet. A, 161 (9). S. 2158 - 2167. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833
Eichstaedt, Christina A., Sassmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota 
ORCID: 0000-0002-7743-2472, Gall, Henning, Sommer, Natascha ORCID: 0000-0002-8915-7762, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Juergen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin ORCID: 0000-0003-2466-1420, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin and Gruenig, Ekkehard
(2022).
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Respir. Res., 23 (1).
LONDON:
BMC.
ISSN 1465-993X
Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Zaniew, Marcin, Adamczyk, Piotr ORCID: 0000-0001-9557-221X, Bayat, Allan ORCID: 0000-0003-4986-8006, Yilmaz, Oeznur, Lindenberg, Tobias T., Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C., Sullivan, Bonnie, Bartik, Lauren, Gnys, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M. and Dworschak, Gabriel C.
.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J. Med. Genet..
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244