The Role of <i>De Novo</i> Variants in Patients with Congenital Diaphragmatic Hernia

by Charlotte Bendixen, Heiko Reutter
Published 2021-09-01

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany

by Anne Karoline Ebert, Nadine Zwink, Nicole Schwarzer, Lilian Brunner, Heiko Reutter, Heiko Reutter, Ekkehart Jenetzky, Ekkehart Jenetzky, Johannes Huber, Barbara Ludwikowski
Published 2018-12-01

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

by Gabriel C. Dworschak, Gabriel C. Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Heiko Reutter, Martina Kreiß
Published 2018-04-01

Towards a Central Role of <em>ISL1</em> in the Bladder Exstrophy–Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling

by Amit Sharma, Tikam Chand Dakal, Michael Ludwig, Holger Fröhlich, Riya Mathur, Heiko Reutter
Published 2018-12-01

The Genomic Architecture of Bladder Exstrophy Epispadias Complex

by Glenda M. Beaman, Raimondo M. Cervellione, David Keene, Heiko Reutter, William G. Newman
Published 2021-07-01

Congenital intrahepatic portocaval shunts and hypoglycemia due to secondary hyperinsulinism: a case report and review of the literature

by Alexander Weigert, Jeanette Bierwolf, Heiko Reutter, Ulrich Gembruch, Joachim Woelfle, Rainer Ganschow, Andreas Mueller
Published 2018-11-01

Extracorporeal membrane oxygenation support in a newborn with lower urinary tract obstruction and pulmonary hypoplasia: a case report

by Eva Gatzweiler, Bernd Hoppe, Oliver Dewald, Christoph Berg, Andreas Müller, Heiko Reutter, Florian Kipfmueller
Published 2018-07-01

Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

by Felicitas Schulz, Ekkehart Jenetzky, Nadine Zwink, Charlotte Bendixen, Florian Kipfmueller, Neysan Rafat, Andreas Heydweiller, Lucas Wessel, Heiko Reutter, Andreas Mueller, Thomas Schaible
Published 2021-06-01

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

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

by Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Published 2019-07-01

Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)

by Luca M. Schierbaum, Sophia Schneider, Stefan Herms, Sugirthan Sivalingam, Julia Fabian, Heiko Reutter, Stefanie Weber, Waltraut M. Merz, Marcin Tkaczyk, Monika Miklaszewska, Przemyslaw Sikora, Agnieszka Szmigielska, Grazyna Krzemien, Katarzyna Zachwieja, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Marcin Polok, Marcin Zaniew, Alina C. Hilger
Published 2021-09-01

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

by Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna M Schmidt, Anne-Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M Boemers, Elisabeth Mangold, Stefanie Heilmann, Kerstin U Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G Herrmann, Manuel Mattheisen, Markus M Nöthen, Michael Ludwig, Heiko Reutter
Published 2015-03-01

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

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

by Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Published 2019-01-01

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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Published 2017-03-01