Universität zu Köln

Journal Article

Bogs, Thomas, Zwink, Nadine, Chonitzki, Vera, Hoelscher, Alice, Boemers, Thomas M., Muensterer, Oliver ORCID: 0000-0003-2790-4395, Kurz, Ralf, Heydweiller, Andreas, Pauly, Marcus, Leutner, Andreas, Ure, Benno M., Lacher, Martin, Deffaa, Oliver Johannes, Thiele, Holger, Bagci, Soyhan ORCID: 0000-0003-1005-665X, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Schumacher, Johannes and Reutter, Heiko (2018). Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. Eur. J. Pediatr. Surg., 28 (2). S. 176 - 183. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-359X

Choinitzki, Vera, Zwink, Nadine, Bartels, Enrika, Baudisch, Friederike, Boemers, Thomas M., Hoelscher, Alice, Turial, Salmai, Bachour, Haitham, Heydweiller, Andreas, Kurz, Ralf, Bartmann, Peter, Pauly, Markus, Brokmeier, Ulrike, Leutner, Andreas, Noehen, Markus M., Schumacher, Johannes ORCID: 0000-0001-9217-6457, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784 and Reutter, Heiko (2013). Second Study on the Recurrence Risk of Isolated Esophageal Atresia with or without Trachea-Esophageal Fistula among First-Degree Relatives: No Evidence for Increased Risk of Recurrence of EA/TEF or for Malformations of the VATER/VACTERL Association Spectrum. Birth Defects Res. Part A-Clin. Mol. Teratol., 97 (12). S. 786 - 792. HOBOKEN: WILEY. ISSN 1542-0760

Dworschak, Gabriel C., Punetha, Jaya ORCID: 0000-0002-6774-4464, 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 ORCID: 0000-0003-4900-9877, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Heron, 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 ORCID: 0000-0001-6461-0957, Chung, Wendy K., O'Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Oeznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R. and Reutter, Heiko (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet. Med., 23 (9). S. 1715 - 1726. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Ebert, Anne-Karoline, Lange, Theresa, Reutter, Heiko, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Stein, Raimund, Boemers, Thomas M., Hirsch, Karin, Rosch, Wolfgang H. and Zwink, Nadine (2017). Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. J. Pediatr. Urol, 13 (2). OXFORD: ELSEVIER SCI LTD. ISSN 1873-4898

Ebert, Anne-Karoline, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Stein, Raimund, Boemers, Thomas M., Lacher, Martin, Fortmann, Caroline, Obermayr, Florian, Fisch, Margit, Mortazawi, Kiarasch, Schmiedeke, Eberhard, Eisenschmidt, Volker, Schaefer, Mattias, Hirsch, Karin, Roesch, Wolfgang H. and Reutter, Heiko (2019). Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study. Urology, 123. S. 210 - 220. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1527-9995

Gehlen, Jan, Giel, Ann-Sophie ORCID: 0000-0003-2973-2099, Koellges, Ricarda, Haas, Stephan L. ORCID: 0000-0003-4329-8751, Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz ORCID: 0000-0002-4583-5517, Roeleveld, Nel ORCID: 0000-0002-3390-4466, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo ORCID: 0000-0003-2778-4274, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne ORCID: 0000-0002-0072-5410, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Lilja, Helene E., Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech ORCID: 0000-0001-6023-8510, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr ORCID: 0000-0003-0555-2229, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen ORCID: 0000-0003-3206-6170, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra ORCID: 0000-0001-7506-9457, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin ORCID: 0000-0001-8235-4010, Reutter, Heiko and Schumacher, Johannes (2022). First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. Hum. Genet. Genom. Adv., 3 (2). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Grosse, Greta, Hilger, Alina, Ludwig, Michael, Reutter, Heiko, Lorenzen, Franziska, Even, Gertrud, Holterhus, Paul-Martin and Woelfle, Joachim (2017). Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. Horm. Res. Paediatr., 88 (6). S. 408 - 418. BASEL: KARGER. ISSN 1663-2826

Ishorst, Nina, Francheschelli, Paola, Boehmer, Anne C., Khan, Mohammad Faisal J., Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Fricker, Nadine, Little, Julian ORCID: 0000-0001-5026-5531, Steegers-Theunissen, Regine P. M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Goelz, Lina, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Halboub, Esam ORCID: 0000-0002-1894-470X, Reutter, Heiko, Mossey, Peter, Noethen, Markus M., Rubini, Michele ORCID: 0000-0003-1448-9516, Ludwig, Kerstin U., Knapp, Michael and Mangold, Elisabeth (2018). Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample. Birth Defects Res., 110 (10). S. 871 - 883. HOBOKEN: WILEY. ISSN 2472-1727

Ishorst, Nina, Henschel, Leonie, Thieme, Frederic, Drichel, Dmitriy, Sivalingam, Sugirthan, Mehrem, Sarah L., Fechtner, Ariane C., Fazaal, Julia, Welzenbach, Julia, Heimbach, Andre, Maj, Carlo, Borisov, Oleg, Hausen, Jonas, Raff, Ruth, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Dixon, Michael, Rada-Iglesias, Alvaro, Bartusel, Michaela, Rojas-Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Goelz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter, Noethen, Markus M., Nothnagel, Michael, Becker, Tim, Ludwig, Kerstin U. and Mangold, Elisabeth (2023). Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Mol. Genet. Genom. Med., 11 (3). HOBOKEN: WILEY. ISSN 2324-9269

Kause, Franziska, Reutter, Heiko, Marsch, Florian, Thiele, Holger, Altmueller, Janine, Ludwig, Michael and Zhang, Rong (2018). Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? Mol. Med. Rep., 17 (2). S. 3200 - 3206. ATHENS: SPANDIDOS PUBL LTD. ISSN 1791-3004

Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

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 ORCID: 0000-0002-2229-1502, Pierrat, Marie-Jeanne, Raes, Ann ORCID: 0000-0001-7809-2505, Reutter, Heiko, Schreuder, Michiel F., Weber, Stefanie, Winyard, Paul J. D., Woolf, Adrian S., Schaefer, Franz and Liebau, Max C. (2022). Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations. Nephrol. Dial. Transplant., 37 (12). S. 2351 - 2363. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, 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., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mallmann, Michael R. ORCID: 0000-0001-9373-3331, Mack-Detlefsen, Birte, Reutter, Heiko, Pohle, Rebecca, Gottschalk, Ingo, Geipel, Annegret, Berg, Christoph, Boemers, Thomas M. and Gembruch, Ulrich ORCID: 0000-0001-8284-4669 (2019). Isolated bladder exstrophy in prenatal diagnosis. Arch. Gynecol. Obstet., 300 (2). S. 355 - 364. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

Mallmann, Michael R., Reutter, Heiko, Gottschalk, Ingo, Geipel, Annegret, Berg, Christoph and Gembruch, Ulrich ORCID: 0000-0001-8284-4669 (2019). Prenatal Diagnosis of Enterolithiasis in 20 Cases. Fetal Diagn. Ther., 46 (4). S. 266 - 274. BASEL: KARGER. ISSN 1421-9964

Mallmann, Michael R., Reutter, Heiko, Mack-Detlefsen, Birte, Gottschalk, Ingo, Geipel, Annegret, Berg, Christoph, Boemers, Thomas M. and Gembruch, Ulrich ORCID: 0000-0001-8284-4669 (2019). Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases. Fetal Diagn. Ther., 45 (1). S. 62 - 69. BASEL: KARGER. ISSN 1421-9964

Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba ORCID: 0000-0001-5371-6756, Stanier, Philip ORCID: 0000-0001-9340-8117, Knapp, Michael and Ludwig, Kerstin U. (2016). Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am. J. Hum. Genet., 98 (4). S. 755 - 763. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjold, Agneta, Newman, William ORCID: 0000-0002-6382-4678, Woolf, Adrian S., Eckstein, Markus ORCID: 0000-0001-5418-3349, Hilger, Alina C., Dworschak, Gabriel C., Roesch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M. ORCID: 0000-0002-7765-0891, Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J., Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Akesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schafer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Noethen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael and Reutter, Heiko (2022). A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Commun. Biol., 5 (1). BERLIN: NATURE PORTFOLIO. ISSN 2399-3642

Nasser, Entessar, Mangold, Elisabeth, Tradowsky, Daniela C., Fier, Heide, Becker, Jessica, Boehmer, Anne C., Herberz, Ruth, Fricker, Nadine, Barth, Sandra, Wahle, Philipp ORCID: 0000-0002-4728-806X, Nowak, Stefanie, Reutter, Heiko, Reich, Rudolf H., Lauster, Carola, Braumann, Bert, Kreusch, Thomas, Hemprich, Alexander, Poetzsch, Bernd, Hoffmann, Per ORCID: 0000-0002-6573-983X, Kramer, Franz-Josef, Knapp, Michael, Lange, Christoph, Noethen, Markus M. and Ludwig, Kerstin U. (2012). Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 94 (11). S. 925 - 934. HOBOKEN: WILEY. ISSN 1542-0760

Reutter, Heiko, Keppler-Noreuil, Kim, Keegan, Catherine E., Thiele, Holger, Yamada, Gen and Ludwig, Michael (2016). Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. Curr. Genomics, 17 (1). S. 4 - 14. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1875-5488

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Laeckgren, Goran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit ORCID: 0000-0002-2216-5389, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip ORCID: 0000-0002-9254-1458, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger ORCID: 0000-0002-0169-998X, Ludwig, Michael, Schweizer, Ulrich ORCID: 0000-0003-1380-4780, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Odermatt, Benjamin and Reutter, Heiko (2020). SLC20A1Is Involved in Urinary Tract and Urorectal Development. Front. Cell. Dev. Biol., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J., Hilger, Alina C., Sharma, Amit ORCID: 0000-0002-2216-5389, Schumacher, Johannes, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Merz, Waltraut M., Becker, Albert, Altmueller, Janine, Thiele, Holger, Herrmann, Bernhard G., Odermatt, Benjamin, Ludwig, Michael and Reutter, Heiko (2018). Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Res., 110 (7). S. 587 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M., Hoefele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit ORCID: 0000-0002-2216-5389, Hoelscher, Alice, Boemers, Thomas M., Pauly, Markus, Leutner, Andreas, Fuchs, Joerg, Seitz, Guido, Ludwikowski, Barbara M., Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Muensterer, Oliver ORCID: 0000-0003-2790-4395, Ure, Beno, Schmiedeke, Eberhard, Neser, Joerg, Degenhardt, Petra, Maerzheuser, Stefanie, Kleine, Katharina, Schaefer, Mattias, Spychalski, Nicole, Deffaa, Oliver J., Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael, Grote, Phillip ORCID: 0000-0002-9254-1458, Schumacher, Johannes, Thiele, Holger ORCID: 0000-0002-0169-998X and Reutter, Heiko (2020). Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia. PLoS One, 15 (6). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Zhang, Rong, Marsch, Florian, Kause, Franziska, Degenhardt, Franziska, Schmiedeke, Eeberhard, Maerzheuser, Stefanie, Hoppe, Bernd, Bachour, Haitham, Boemers, Thomas M., Schaefer, Matthias, Spychalski, Nicole, Neser, Joerg, Leonhardt, Johannes, Kosch, Ferdinand, Ure, Benno, Gomez, Barbara, Lacher, Martin, Deffaa, Oliver J., Palta, Markus, Wittekindt, Boris, Kleine, Katharina, Schmedding, Andrea ORCID: 0000-0002-7796-3329, Grasshoff-Derr, Sabine, van der Ven, Amelie, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael and Reutter, Heiko ORCID: 0000-0002-3591-5265 (2017). Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Res., 109 (13). S. 1063 - 1070. HOBOKEN: WILEY. ISSN 2472-1727

Zhang, Rong, Thiele, Holger, Bartmann, Peter, Hilger, Alina C., Berg, Christoph, Herberg, Ulrike, Klingmueller, Dietrich, Nuernberg, Peter, Ludwig, Michael and Reutter, Heiko (2016). Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res. Hum. Genet., 19 (1). S. 60 - 66. NEW YORK: CAMBRIDGE UNIV PRESS. ISSN 1839-2628