Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract von Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm

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Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract von Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C., Schulz, Julian, van Eerde, Albertien M., Hilger, Alina C., Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G., van de Hoek, Glenn, Renkema, Kirsten Y., Schell, Christoph, Huber, Tobias B., Reutter, Heiko M., Soliman, Neveen A., Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O., Lifton, Richard P., Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm

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Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study von Ebach, Fabian, Wagner, Pauline, Stein, Raimund, Dolscheid-Pommerich, Ramona, Reutter, Heiko, Hilger, Alina C

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Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Paki... von Nauman, Nuzhat, Jalali, Samina, Shami, Sajjad, Rafiq, Shireen, Große, Greta, Hilger, Alina C, Zhang, Rhong, Mansoor, Saira, Ludwig, Michael, Reutter, Heiko

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Modelling human lower urinary tract malformations in zebrafish von Kolvenbach, Caroline M., Dworschak, Gabriel C., Rieke, Johanna M., Woolf, Adrian S., Reutter, Heiko, Odermatt, Benjamin, Hilger, Alina C.

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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation von Köllges, Ricarda, Stegmann, Jil, Schneider, Sophia, Waffenschmidt, Lea, Fazaal, Julia, Breuer, Katinka, Hilger, Alina C, Dworschak, Gabriel C, Mingardo, Enrico, Rösch, Wolfgang, Hofmann, Aybike, Neissner, Claudia, Ebert, Anne-Karolin, Stein, Raimund, Younsi, Nina, Hirsch-Koch, Karin, Schmiedeke, Eberhard, Zwink, Nadine, Jenetzky, Ekkehart, Thiele, Holger, Ludwig, Kerstin U, Reutter, Heiko

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PKD1L1 Is Involved in Congenital Chylothorax von Whitchurch, Jonathan B, Schneider, Sophia, Hilger, Alina C, Köllges, Ricarda, Stegmann, Jil D, Waffenschmidt, Lea, Dyer, Laura, Thiele, Holger, Dhabhai, Bhanupriya, Dakal, Tikam Chand, Müller, Andreas, Norris, Dominic P, Reutter, Heiko M

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Whole-Exome Sequencing in Nine Monozygotic Discordant Twins von Zhang, Rong, Thiele, Holger, Bartmann, Peter, Hilger, Alina C., Berg, Christoph, Herberg, Ulrike, Klingmüller, Dietrich, Nürnberg, Peter, Ludwig, Michael, Reutter, Heiko

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PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology? von Kolarova, Julia, Bens, Susanne, Ammerpohl, Ole, Hilger, Alina C., Zhang, Rong, Reutter, Heiko, Siebert, Reiner

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Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype von Reutter, Heiko, Hilger, Alina C., Hildebrandt, Friedhelm, Ludwig, Michael

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Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation von Schreiner, Felix, Plamper, Michaela, Dueker, Gesche, Schoenberger, Stefan, Gámez-Díaz, Laura, Grimbacher, Bodo, Hilger, Alina C, Gohlke, Bettina, Reutter, Heiko, Woelfle, Joachim

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Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract von KOHL, Stefan, HWANG, Daw-Yang, TASIC, Velibor, HILDEBRANDT, Friedhelm, DWORSCHAK, Gabriel C, HILGER, Alina C, SAISAWAT, Pawaree, VIVANTE, Asaf, STAJIC, Natasa, BOGDANOVIC, Radovan, REUTTER, Heiko M, KEHINDE, Elijah O

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Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations von Kohl, Stefan, Avni, Fred E, Boor, Peter, Capone, Valentina, Clapp, William L, De Palma, Diego, Harris, Tess, Heidet, Laurence, Hilger, Alina C, Liapis, Helen, Lilien, Marc, Manzoni, Gianantonio, Montini, Giovanni, Negrisolo, Susanna, Pierrat, Marie-Jeanne, Raes, Ann, Reutter, Heiko, Schreuder, Michiel F, Weber, Stefanie, Winyard, Paul J D, Woolf, Adrian S, Schaefer, Franz, Liebau, Max C

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Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes von Breuer, Katinka, Riedhammer, Korbinian M, Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M M, Westphal, Dominik S, Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C, Hoefele, Julia

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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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Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations von Fabian, Julia, Dworschak, Gabriel C, Waffenschmidt, Lea, Schierbaum, Luca, Bendixen, Charlotte, Heilmann-Heimbach, Stefanie, Sivalingam, Sugirthan, Buness, Andreas, Schwarzer, Nicole, Boemers, Thomas M, Schmiedeke, Eberhard, Neser, Jörg, Leonhardt, Johannes, Kosch, Ferdinand, Weih, Sandra, Gielen, Helen Maya, Hosie, Stuart, Kabs, Carmen, Palta, Markus, Märzheuser, Stefanie, Bode, Lena Marie, Lacher, Martin, Schäfer, Frank-Mattias, Stehr, Maximilian, Knorr, Christian, Ure, Benno, Kleine, Katharina, Rolle, Udo, Zaniew, Marcin, Phillip, Grote, Zwink, Nadine, Jenetzky, Ekkehart, Reutter, Heiko, Hilger, Alina C

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Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax von Schneider, Sophia, Köllges, Ricarda, Stegmann, Jil D., Thieme, Frederic, Hilger, Alina C., Waffenschmidt, Lea, Fazaal, Julia, Kalanithy, Jeshurun C., Geipel, Annegret, Strizek, Brigitte, Ludwig, Kerstin U., Reutter, Heiko, Müller, Andreas

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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction von Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Öznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F.M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna, Szczepańska, Maria, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F.J., van Rooij, Iris A.L.M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkötter, Markus, Hoppe, Bernd, Thiele, Holger, Altmüller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin, Hilger, Alina C.

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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association von Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hermann, Bernhard G., Pavlova, Anna, El-Maarri, Osman, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko, Hildebrandt, Friedhelm

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Long-Term Experience of Arterio-Venous Fistula Surgery in Children on Hemodialysis von Almási-Sperling, Veronika, Gall, Christine, Haney, Briain, Latzel, Nina, Knieling, Ferdinand, Hilger, Alina C, Regensburger, Adrian P, Meyer, Alexander, Lang, Werner, Rother, Ulrich

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