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Journal Article

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

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

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

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

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

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