Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association

Por Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yung, Dworschak, Gabriel C., Hermann, Bernhard G., Pavlova, Anna, El-Maarri, Osman, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko, Hildebrandt, Friedhelm
Publicado no Hum Mutat (2015)

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

Por Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U., Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G., Mattheisen, Manuel, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko
Publicado no PLoS Genet (2015)

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Por 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 HW, Marcelis, Carlo LM, van Rooij, Iris ALM, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus
Publicado em 2013

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

Por 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
Publicado no Hum Genet (2015)

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated cla...

Por Reutter, Heiko, Draaken, Markus, Pennimpede, Tracie, Wittler, Lars, Brockschmidt, Felix F., Ebert, Anne-Karolin, Bartels, Enrika, Rösch, Wolfgang, Boemers, Thomas M., Hirsch, Karin, Schmiedeke, Eberhard, Meesters, Christian, Becker, Tim, Stein, Raimund, Utsch, Boris, Mangold, Elisabeth, Nordenskjöld, Agneta, Barker, Gillian, Kockum, Christina Clementsson, Zwink, Nadine, Holmdahl, Gundula, Läckgren, Göran, Jenetzky, Ekkehart, Feitz, Wouter F.J., Marcelis, Carlo, Wijers, Charlotte H.W., Van Rooij, Iris A.L.M., Gearhart, John P., Herrmann, Bernhard G., Ludwig, Michael, Boyadjiev, Simeon A., Nöthen, Markus M., Mattheisen, Manuel
Publicado em 2014

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Por Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, 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, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, 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
Publicado em 2013