Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

by Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter
Published 2017-12-01

Treatment Strategies and Outcome of the Exstrophy–Epispadias Complex in Germany: Data From the German CURE-Net

by Anne-Karoline Ebert, Nadine Zwink, Heiko M. Reutter, Heiko M. Reutter, Ekkehart Jenetzky, Ekkehart Jenetzky, Raimund Stein, Alice C. Hölscher, Martin Lacher, Caroline Fortmann, Florian Obermayr, Margit Fisch, Kiarasch Mortazawi, Eberhard Schmiedeke, Martin Promm, Karin Hirsch, Frank-Mattias Schäfer, Wolfgang H. Rösch
Published 2020-05-01

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

by Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen
Published 2020-06-01

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.

by Rong Zhang, Jan Gehlen, Amit Kawalia, Maria-Theodora Melissari, Tikam Chand Dakal, Athira M Menon, Julia Höfele, Korbinian Riedhammer, Lea Waffenschmidt, Julia Fabian, Katinka Breuer, Jeshurun Kalanithy, Alina Christine Hilger, Amit Sharma, Alice Hölscher, Thomas M Boemers, Markus Pauly, Andreas Leutner, Jörg Fuchs, Guido Seitz, Barbara M Ludwikowski, Barbara Gomez, Jochen Hubertus, Andreas Heydweiller, Ralf Kurz, Johannes Leonhardt, Ferdinand Kosch, Stefan Holland-Cunz, Oliver Münsterer, Beno Ure, Eberhard Schmiedeke, Jörg Neser, Petra Degenhardt, Stefanie Märzheuser, Katharina Kleine, Mattias Schäfer, Nicole Spychalski, Oliver J Deffaa, Jan-Hendrik Gosemann, Martin Lacher, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Phillip Grote, Johannes Schumacher, Holger Thiele, Heiko Reutter
Published 2020-01-01

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

by Johanna Magdalena Rieke, Johanna Magdalena Rieke, Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Michael Pleschka, Alina C. Hilger, Alina C. Hilger, Sophia Schneider, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Catherine E. Keegan, Amit Sharma, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Ekkehart Jenetzky, Alfredo Brusco, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Adrian S. Woolf, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter, Heiko Reutter
Published 2020-08-01