Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation von Thiem, Corina E., Stegmann, Jil D., Hilger, Alina C., Waffenschmidt, Lea, Bendixen, Charlotte, Köllges, Ricarda, Schmiedeke, Eberhard, Schäfer, Frank‐Mattias, Lacher, Martin, Kosch, Ferdinand, Grasshoff‐Derr, Sabine, Kabs, Carmen, Neser, Jörg, Jenetzky, Ekkehart, Fazaal, Julia, Schumacher, Johannes, Hoefele, Julia, Ludwig, Kerstin U., Reutter, Heiko

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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal... von Dworschak, Gabriel C., Draaken, Markus, Marcelis, Carlo, de Blaauw, Ivo, Pfundt, Rolph, van Rooij, Iris A.L.M., Bartels, Enrika, Hilger, Alina, Jenetzky, Ekkehart, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Schmidt, Dominik, Märzheuser, Stefanie, Hosie, Stuart, Weih, Sandra, Holland-Cunz, Stefan, Palta, Markus, Leonhardt, Johannes, Schäfer, Mattias, Kujath, Christina, Rißmann, Anke, Nöthen, Markus M., Zwink, Nadine, Ludwig, Michael, Reutter, Heiko

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Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study von Zwink, Nadine, Jenetzky, Ekkehart, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Weih, Sandra, Hosie, Stuart, Reifferscheid, Peter, Ameis, Helen, Kujath, Christina, Rissmann, Anke, Obermayr, Florian, Schwarzer, Nicole, Bartels, Enrika, Reutter, Heiko, Brenner, Hermann

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Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities von Dworschak, Gabriel C., Draaken, Markus, Hilger, Alina C., Schramm, Charlotte, Bartels, Enrika, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Holland-Cunz, Stefan, Lacher, Martin, Jenetzky, Ekkehart, Zwink, Nadine, Schmidt, Dominik, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko

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Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey von Midrio, Paola, van Rooij, Iris A. L. M., Brisighelli, Giulia, Garcia, Aracelli, Fanjul, Maria, Broens, Paul, Iacobelli, Barbara D., Giné, Carlos, Lisi, Gabriele, Sloots, Cornelius E. J., Fascetti Leon, Francesco, Morandi, Anna, van der Steeg, Herjan, Giuliani, Stefan, Grasshoff-Derr, Sabine, Lacher, Martin, de Blaauw, Ivo, Jenetzky, Ekkehart

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Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies von Zeidler, Claudia, Woelfle, Joachim, Draaken, Markus, Mughal, Sadaf S., Große, Greta, Hilger, Alina C., Dworschak, Gabriel C., Boemers, Thomas M., Jenetzky, Ekkehart, Zwink, Nadine, Lacher, Martin, Schmidt, Dominik, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Holland-Cunz, Stefan, Schäfer, Mattias, Bartels, Enrika, Keppler, Kathleen, Palta, Markus, Leonhardt, Johannes, Kujath, Christina, Rißmann, Anke, Nöthen, Markus M., Reutter, Heiko, Ludwig, Michael

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Array‐based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL‐like patients identifies disease‐causing copy number variations von Zhang, Rong, Marsch, Florian, Kause, Franziska, Degenhardt, Franziska, Schmiedeke, Eeberhard, Märzheuser, Stefanie, Hoppe, Bernd, Bachour, Haitham, Boemers, Thomas M., Schäfer, Matthias, Spychalski, Nicole, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Ure, Benno, Gómez, Barbara, Lacher, Martin, Deffaa, Oliver J., Palta, Markus, Wittekindt, Boris, Kleine, Katharina, Schmedding, Andrea, Grasshoff‐Derr, Sabine, Ven, Amelie van der, Heilmann‐Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Reutter, Heiko

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Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across... von Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.

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De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation von Schramm, Charlotte, Draaken, Markus, Bartels, Enrika, Boemers, Thomas M., Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Baudisch, Friederike, Priebe, Lutz, Hoffmann, Per, Zink, Alexander M., Engels, Hartmut, Brockschmidt, Felix F., Aretz, Stefan, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko

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The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics von Hageman, Isabel C, Midrio, Paola, van der Steeg, Hendrik J J, Jenetzky, Ekkehart, Iacobelli, Barbara D, Morandi, Anna, Sloots, Cornelius E J, Schmiedeke, Eberhard, Broens, Paul M A, Fascetti Leon, Francesco, Çavuşoğlu, Yusuf H, Gorter, Ramon R, Trajanovska, Misel, King, Sebastian K, Aminoff, Dalia, Schwarzer, Nicole, Haanen, Michel, de Blaauw, Ivo, van Rooij, Iris A L M

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A Quality Assessment of the ARM-Net Registry Design and Data Collection von Hageman, Isabel C., van der Steeg, Hendrik J.J., Jenetzky, Ekkehart, Trajanovska, Misel, King, Sebastian K., de Blaauw, Ivo, van Rooij, Iris A.L.M., Aminoff, Dalia, Amerstorfer, Eva, Till, Holger, Bagolan, Piero, Iacobelli, Barbara, Çavuşoğlu, Hakan, Ozen, Onur, Deluggi, Stefan, Ludwiczek, Johanna, Divarci, Emre, Fanjul, María, Fascetti-Leon, Francesco, Vázquez, Araceli García, Giné, Carlos, Gorter, Ramon, de Jong, Justin, Goseman, Jan, Lacher, Martin, Grano, Caterina, Grasshoff-Derr, Sabine, Haanen, Michel, Leva, Ernesto, Morandi, Anna, Lisi, Gabriele, Makedonsky, Igor, Marcelis, Carlo, Midrio, Paola, Miserez, Marc, Mohideen, Mazeena, PiniPrato, Alessio, Reck-Burneo, Carlos, Reutter, Heiko, Rohleder, Stephan, Samuk, Inbal, Schmiedeke, Eberhard, Schwarzer, Nicole, Sloots, Pim, Stenström, Pernilla, Verhaak, Chris, Vilanova-Sánchez, Alejandra, Volk, Patrick, Witvliet, Marieke

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What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion von Amerstorfer, Eva Elisa, Grano, Caterina, Verhaak, Chris, García-Vasquez, Araceli, Miserez, Marc, Radleff-Schlimme, Annemone, Schwarzer, Nicole, Haanen, Michel, de Blaauw, Ivo, Jenetzky, Ekkehart, van der Steeg, Alida, van Rooij, Iris A. L. M.

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Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium von Fanjul, María, Samuk, I., Bagolan, P., Leva, E., Sloots, C., Giné, C., Aminoff, D., Midrio, P.

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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis von Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Dueñas Rey, Alfredo, Kaeseberg, Stephan, Jaeger, Melanie, Willer, Jason R, Winter, Jennifer, Truong, Hanh M, Roura Gruartmoner, Núria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stoehr, Heidi, Mansard, Luke, Roux, Anne-Francoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M, Van Lint, Michel, Rossmann, Heidi, Haeuser, Friederike, Nuernberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N, De Baere, Elfride, Bolz, Hanno J

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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association von Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Yung Gee, Heon, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm

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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis von Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R, Winter, Jennifer, Truong, Hanh M, Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M, Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N, De Baere, Elfride, Bolz, Hanno J

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First results of a European multi-center registry of patients with anorectal malformations von de Blaauw, Ivo, Wijers, Charlotte H.W, Schmiedeke, Eberhard, Holland-Cunz, Stefan, Gamba, Piergiorgio, Marcelis, Carlo L.M, Reutter, Heiko, Aminoff, Dalia, Schipper, Muriel, Schwarzer, Nicole, Grasshoff-Derr, Sabine, Midrio, Paola, Jenetzky, Ekkehart, van Rooij, Iris A.L.M

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Trio Exome Sequencing in VACTERL Association von Ćomić, Jasmina, Tilch, Erik, Riedhammer, Korbinian M., Brugger, Melanie, Brunet, Theresa, Eyring, Katharina, Vill, Katharina, Redler, Silke, Tasic, Velibor, Schmiedeke, Eberhard, Schäfer, Frank-Mattias, Abazi-Emini, Nora, Jenetzky, Ekkehart, Schwarzer, Nicole, Widenmann, Anke, Lacher, Martin, Zech, Michael, Grasshoff-Derr, Sabine, Geßner, Michaela, Kabs, Carmen, Seitz, Barbara, Heydweiller, Andreas C., Muensterer, Oliver, Lange-Sperandio, Bärbel, Rolle, Udo, Schumacher, Johannes, Braunisch, Matthias C., Berutti, Riccardo, Reutter, Heiko, Hoefele, Julia

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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association von Hilger, Alina, Schramm, Charlotte, Pennimpede, Tracie, Wittler, Lars, Dworschak, Gabriel C, Bartels, Enrika, Engels, Hartmut, Zink, Alexander M, Degenhardt, Franziska, Müller, Annette M, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Wijers, Charlotte H W, Marcelis, Carlo L M, van Rooij, Iris A L M, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus

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Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences—The ARM-Net Consortium Consensus von Amerstorfer, Eva E., Schmiedeke, Eberhard, Samuk, Inbal, Sloots, Cornelius E. J., van Rooij, Iris A. L. M., Jenetzky, Ekkehart, Midrio, Paola

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