Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

Por Reutter, Heiko, Hilger, Alina C., Hildebrandt, Friedhelm, Ludwig, Michael
Publicado no Pediatr Nephrol (2016)

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

Por Schumann, Madita, Hofmann, Andrea, Krutzke, Sophia K., Hilger, Alina C., Marsch, Florian, Stienen, Dietlinde, Gembruch, Ulrich, Ludwig, Michael, Merz, Waltraut M., Reutter, Heiko
Publicado no J Neurodev Disord (2016)

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Por Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado em 2014

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Por 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
Publicado em 2014

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)

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)

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

Por Bartels, Enrika, Schulz, Anna C., Mora, Nicole W., Pineda-Alvarez, Daniel E., Wijers, Charlotte H. W., Marcelis, Carlo M., Stressig, Rüdiger, Ritgen, Jochen, Schmiedeke, Eberhard, Mattheisen, Manuel, Draaken, Markus, Hoffmann, Per, Hilger, Alina C., Dworschak, Gabriel C., Baudisch, Friederike, Ludwig, Michael, Bagci, Soyhan, Müller, Andreas, Gembruch, Ulrich, Geipel, Annegret, Berg, Christoph, Bartmann, Peter, Nöthen, Markus M., van Rooij, Iris A.L.M., Solomon, Benjamin D., Reutter, Heiko M.
Publicado em 2012

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Por Brosens, Erwin, Marsch, Florian, de Jong, Elisabeth M, Zaveri, Hitisha P, Hilger, Alina C, Choinitzki, Vera Gisela, Hölscher, Alice, Hoffmann, Per, Herms, Stefan, Boemers, Thomas M, Ure, Benno M, Lacher, Martin, Ludwig, Michael, Eussen, Bert H, van der Helm, Robert M, Douben, Hannie, Van Opstal, Diane, Wijnen, Rene M H, Beverloo, H Berna, van Bever, Yolande, Brooks, Alice S, IJsselstijn, Hanneke, Scott, Daryl A, Schumacher, Johannes, Tibboel, Dick, Reutter, Heiko, de Klein, Annelies
Publicado no Eur J Hum Genet (2016)

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