Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
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
Published in Kidney international (01.06.2014)
Published in Kidney international (01.06.2014)
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Journal Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
Dworschak, Gabriel C, Reutter, Heiko M, Ludwig, Michael
Published in Orphanet journal of rare diseases (09.04.2021)
Published in Orphanet journal of rare diseases (09.04.2021)
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Journal Article
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
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
Published in Human genetics (01.08.2015)
Published in Human genetics (01.08.2015)
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Journal Article
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
Dworschak, Gabriel C, Zwink, Nadine, Schmiedeke, Eberhard, Mortazawi, Kiarasch, Märzheuser, Stefanie, Reinshagen, Konrad, Leonhardt, Johannes, Gómez, Barbara, Volk, Patrick, Rißmann, Anke, Jenetzky, Ekkehart, Reutter, Heiko
Published in Orphanet journal of rare diseases (13.12.2017)
Published in Orphanet journal of rare diseases (13.12.2017)
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Journal Article
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
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
Published in Biomolecules (Basel, Switzerland) (13.07.2023)
Published in Biomolecules (Basel, Switzerland) (13.07.2023)
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Journal Article
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
DWORSCHAK, GABRIEL C, DRAAKEN, MARKUS, HILGER, ALINA, BORN, MARK, REUTTER, HEIKO, LUDWIG, MICHAEL
Published in International journal of molecular medicine (01.07.2013)
Published in International journal of molecular medicine (01.07.2013)
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Journal Article
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia
Dworschak, Gabriel C, Engels, Hartmut, Becker, Jessica, Soellner, Lukas, Eggermann, Thomas, Kipfmueller, Florian, Müller, Andreas, Reutter, Heiko, Kreiß, Martina
Published in Frontiers in pediatrics (25.04.2018)
Published in Frontiers in pediatrics (25.04.2018)
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Journal Article
Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
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
Published in Journal of the American Society of Nephrology (01.09.2014)
Published in Journal of the American Society of Nephrology (01.09.2014)
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Journal Article
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, Dworschak, Gabriel C
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Journal Article
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., Reutter, Heiko
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Journal Article
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
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
Published in Kidney international (01.06.2014)
Published in Kidney international (01.06.2014)
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Journal Article
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
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
Published in European journal of human genetics : EJHG (01.01.2023)
Published in European journal of human genetics : EJHG (01.01.2023)
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Journal Article
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association
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
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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Journal Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Kolvenbach, Caroline M., Ven, Amelie T., Kause, Franziska, Shril, Shirlee, Scala, Marcello, Connaughton, Dervla M., Mann, Nina, Nakayama, Makiko, Dai, Rufeng, Kitzler, Thomas M., Schneider, Ronen, Schierbaum, Luca, Schneider, Sophia, Accogli, Andrea, Torella, Annalaura, Piatelli, Gianluca, Nigro, Vincenzo, Capra, Valeria, Hoppe, Bernd, Märzheuser, Stefanie, Schmiedeke, Eberhard, Rehm, Heidi L., Mane, Shrikant, Lifton, Richard P., Dworschak, Gabriel C., Hilger, Alina C., Reutter, Heiko, Hildebrandt, Friedhelm
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Expanding the knowledge on development of CAKUT: molecular genetics and beyond
Dworschak, Gabriel C., Reutter, Heiko, Hilger, Alina C.
Published in Annals of translational medicine (01.10.2019)
Published in Annals of translational medicine (01.10.2019)
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Journal Article
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract
Kohl, Stefan, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Shril, Shirlee, Dworschak, Gabriel C, Van Der Ven, Amelie, Sanna-Cherchi, Simone, Bauer, Stuart B, Lee, Richard S, Soliman, Neveen A, Kehinde, Elijah O, Reutter, Heiko M, Tasic, Velibor, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.08.2016)
Published in Nephrology, dialysis, transplantation (01.08.2016)
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Journal Article